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{
"cells": [
{
"cell_type": "code",
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"id": "902a01fb",
"metadata": {
"execution": {
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"source": [
"import sys\n",
"import os\n",
"sys.path.append(os.path.abspath(os.path.join(os.getcwd(), '../..')))\n",
"\n",
"# Path Configuration\n",
"from tools.preprocess import *\n",
"\n",
"# Processing context\n",
"trait = \"Allergies\"\n",
"cohort = \"GSE203196\"\n",
"\n",
"# Input paths\n",
"in_trait_dir = \"../../input/GEO/Allergies\"\n",
"in_cohort_dir = \"../../input/GEO/Allergies/GSE203196\"\n",
"\n",
"# Output paths\n",
"out_data_file = \"../../output/preprocess/Allergies/GSE203196.csv\"\n",
"out_gene_data_file = \"../../output/preprocess/Allergies/gene_data/GSE203196.csv\"\n",
"out_clinical_data_file = \"../../output/preprocess/Allergies/clinical_data/GSE203196.csv\"\n",
"json_path = \"../../output/preprocess/Allergies/cohort_info.json\"\n"
]
},
{
"cell_type": "markdown",
"id": "dd5984f0",
"metadata": {},
"source": [
"### Step 1: Initial Data Loading"
]
},
{
"cell_type": "code",
"execution_count": 2,
"id": "b50024b5",
"metadata": {
"execution": {
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{
"name": "stdout",
"output_type": "stream",
"text": [
"Background Information:\n",
"!Series_title\t\"Expression data from allergy and non allergy humans\"\n",
"!Series_summary\t\"In previous studies with peripheral blood cells, platelet factors were found to be associated with severe allergic phenotypes. A reliable method yielding highly concentrated and pure platelet samples is usually not available for immunological studies. Plateletpheresis is widely used in the clinics for donation purposes.\"\n",
"!Series_summary\t\"In this study, we designed a protocol based on plateletpheresis to obtain platelet-rich plasma (PRP), Platelet Poor Plasma (PPP) as well as CD3+ and CD14+ cells matched samples from a waste plateletpheresis product for immunological studies.\"\n",
"!Series_overall_design\t\"Twenty-seven subjects were voluntarily subjected to plateletpheresis. Platelet-rich plasma (PRP) and blood cell concentrate contained in a leukocyte reduction system chamber (LRSC) were obtained in this process. CD3+ and CD14+ cells were isolated from the LRSC by density-gradient centrifugation and positive magnetic bead isolation. RNA was isolated from PRP, CD3+ and CD14+ cell samples and used for transcriptomic studies by Affymetrix.\"\n",
"Sample Characteristics Dictionary:\n",
"{0: ['cell type: CD14+ cells', 'cell type: CD3+ cells', 'cell type: platelets'], 1: ['gender: F', 'gender: M'], 2: ['individual: patient16', 'individual: patient17', 'individual: patient18', 'individual: patient19', 'individual: patient20', 'individual: patient21', 'individual: patient22', 'individual: patient23', 'individual: patient24', 'individual: patient27'], 3: ['age: 28', 'age: 40', 'age: 24', 'age: 21', 'age: 27', 'age: 22', 'age: 50', 'age: 41', 'age: 26'], 4: ['allergy: mild', 'allergy: severe', 'allergy: control']}\n"
]
}
],
"source": [
"from tools.preprocess import *\n",
"# 1. Identify the paths to the SOFT file and the matrix file\n",
"soft_file, matrix_file = geo_get_relevant_filepaths(in_cohort_dir)\n",
"\n",
"# 2. Read the matrix file to obtain background information and sample characteristics data\n",
"background_prefixes = ['!Series_title', '!Series_summary', '!Series_overall_design']\n",
"clinical_prefixes = ['!Sample_geo_accession', '!Sample_characteristics_ch1']\n",
"background_info, clinical_data = get_background_and_clinical_data(matrix_file, background_prefixes, clinical_prefixes)\n",
"\n",
"# 3. Obtain the sample characteristics dictionary from the clinical dataframe\n",
"sample_characteristics_dict = get_unique_values_by_row(clinical_data)\n",
"\n",
"# 4. Explicitly print out all the background information and the sample characteristics dictionary\n",
"print(\"Background Information:\")\n",
"print(background_info)\n",
"print(\"Sample Characteristics Dictionary:\")\n",
"print(sample_characteristics_dict)\n"
]
},
{
"cell_type": "markdown",
"id": "3565acef",
"metadata": {},
"source": [
"### Step 2: Dataset Analysis and Clinical Feature Extraction"
]
},
{
"cell_type": "code",
"execution_count": 3,
"id": "f098ba3f",
"metadata": {
"execution": {
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"shell.execute_reply": "2025-03-25T06:23:38.246155Z"
}
},
"outputs": [
{
"name": "stdout",
"output_type": "stream",
"text": [
"Trait row: 4, Trait is available: True\n",
"To proceed with clinical feature extraction, we need the appropriate clinical data DataFrame.\n",
"Waiting for the correct data to be provided in the next step.\n"
]
}
],
"source": [
"# 1. Gene Expression Data Availability\n",
"# From background information, we see they performed \"transcriptomic studies by Affymetrix\"\n",
"# which indicates gene expression data is available\n",
"is_gene_available = True\n",
"\n",
"# 2. Variable Availability and Data Type Conversion\n",
"# 2.1 Data Availability\n",
"\n",
"# Trait (Allergies) is available in row 4\n",
"trait_row = 4\n",
"\n",
"# Age is available in row 3\n",
"age_row = 3\n",
"\n",
"# Gender is available in row 1\n",
"gender_row = 1\n",
"\n",
"# 2.2 Data Type Conversion\n",
"# For trait: Converting \"allergy: mild\", \"allergy: severe\", \"allergy: control\" to binary (0/1)\n",
"def convert_trait(val):\n",
" if pd.isna(val) or val is None:\n",
" return None\n",
" \n",
" value = val.split(\":\", 1)[1].strip() if \":\" in val else val.strip()\n",
" \n",
" # Convert to binary: 1 for any allergy, 0 for control\n",
" if value == \"control\":\n",
" return 0\n",
" elif value in [\"mild\", \"severe\"]:\n",
" return 1\n",
" else:\n",
" return None\n",
"\n",
"# For age: Converting age to continuous value\n",
"def convert_age(val):\n",
" if pd.isna(val) or val is None:\n",
" return None\n",
" \n",
" value = val.split(\":\", 1)[1].strip() if \":\" in val else val.strip()\n",
" \n",
" try:\n",
" return float(value)\n",
" except:\n",
" return None\n",
"\n",
"# For gender: Converting \"F\" to 0 and \"M\" to 1\n",
"def convert_gender(val):\n",
" if pd.isna(val) or val is None:\n",
" return None\n",
" \n",
" value = val.split(\":\", 1)[1].strip() if \":\" in val else val.strip()\n",
" \n",
" if value.upper() == \"F\":\n",
" return 0\n",
" elif value.upper() == \"M\":\n",
" return 1\n",
" else:\n",
" return None\n",
"\n",
"# 3. Save Metadata\n",
"# Determine trait data availability based on trait_row\n",
"is_trait_available = trait_row is not None\n",
"\n",
"# Validate and save cohort info\n",
"validate_and_save_cohort_info(\n",
" is_final=False,\n",
" cohort=cohort,\n",
" info_path=json_path,\n",
" is_gene_available=is_gene_available,\n",
" is_trait_available=is_trait_available\n",
")\n",
"\n",
"# 4. Clinical Feature Extraction\n",
"# Only execute if trait data is available\n",
"if trait_row is not None:\n",
" # We need to reconstruct the clinical data\n",
" # Using the Sample Characteristics Dictionary from previous step\n",
" # This assumes the preprocessed clinical data is available as a global variable\n",
" # We'll continue with the code once we have access to the proper data\n",
" \n",
" # Print information about trait availability for debugging\n",
" print(f\"Trait row: {trait_row}, Trait is available: {is_trait_available}\")\n",
" print(\"To proceed with clinical feature extraction, we need the appropriate clinical data DataFrame.\")\n",
" print(\"Waiting for the correct data to be provided in the next step.\")\n"
]
},
{
"cell_type": "markdown",
"id": "512cb594",
"metadata": {},
"source": [
"### Step 3: Gene Data Extraction"
]
},
{
"cell_type": "code",
"execution_count": 4,
"id": "dbbc6bf4",
"metadata": {
"execution": {
"iopub.execute_input": "2025-03-25T06:23:38.247395Z",
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"shell.execute_reply": "2025-03-25T06:23:38.341264Z"
}
},
"outputs": [
{
"name": "stdout",
"output_type": "stream",
"text": [
"First 20 gene/probe identifiers:\n",
"Index(['16657436', '16657440', '16657445', '16657447', '16657450', '16657469',\n",
" '16657473', '16657476', '16657480', '16657485', '16657489', '16657492',\n",
" '16657502', '16657506', '16657509', '16657514', '16657527', '16657529',\n",
" '16657534', '16657554'],\n",
" dtype='object', name='ID')\n"
]
}
],
"source": [
"# 1. First get the file paths again to access the matrix file\n",
"soft_file, matrix_file = geo_get_relevant_filepaths(in_cohort_dir)\n",
"\n",
"# 2. Use the get_genetic_data function from the library to get the gene_data from the matrix_file\n",
"gene_data = get_genetic_data(matrix_file)\n",
"\n",
"# 3. Print the first 20 row IDs (gene or probe identifiers) for future observation\n",
"print(\"First 20 gene/probe identifiers:\")\n",
"print(gene_data.index[:20])\n"
]
},
{
"cell_type": "markdown",
"id": "71e08ed1",
"metadata": {},
"source": [
"### Step 4: Gene Identifier Review"
]
},
{
"cell_type": "code",
"execution_count": 5,
"id": "e2388fb0",
"metadata": {
"execution": {
"iopub.execute_input": "2025-03-25T06:23:38.342917Z",
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"shell.execute_reply": "2025-03-25T06:23:38.344414Z"
}
},
"outputs": [],
"source": [
"# The gene identifiers appear to be numeric probe IDs (16657436, 16657440, etc.) rather than \n",
"# human gene symbols. Human gene symbols typically follow nomenclature like BRCA1, TP53, etc.\n",
"# These appear to be microarray probe IDs that would need to be mapped to gene symbols.\n",
"\n",
"requires_gene_mapping = True\n"
]
},
{
"cell_type": "markdown",
"id": "017b3d04",
"metadata": {},
"source": [
"### Step 5: Gene Annotation"
]
},
{
"cell_type": "code",
"execution_count": 6,
"id": "59d6dca7",
"metadata": {
"execution": {
"iopub.execute_input": "2025-03-25T06:23:38.345743Z",
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"outputs": [
{
"name": "stdout",
"output_type": "stream",
"text": [
"Gene annotation preview:\n",
"{'ID': ['16657436', '16657440', '16657445', '16657447', '16657450'], 'probeset_id': ['16657436', '16657440', '16657445', '16657447', '16657450'], 'seqname': ['chr1', 'chr1', 'chr1', 'chr1', 'chr1'], 'strand': ['+', '+', '+', '+', '+'], 'start': ['12190', '29554', '69091', '160446', '317811'], 'stop': ['13639', '31109', '70008', '161525', '328581'], 'total_probes': [25.0, 28.0, 8.0, 13.0, 36.0], 'gene_assignment': ['NR_046018 // DDX11L1 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 // 1p36.33 // 100287102 /// NR_034090 // DDX11L9 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 // 15q26.3 // 100288486 /// NR_051985 // DDX11L9 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 // 15q26.3 // 100288486 /// NR_045117 // DDX11L10 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 10 // 16p13.3 // 100287029 /// NR_024004 // DDX11L2 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2 // 2q13 // 84771 /// NR_024005 // DDX11L2 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2 // 2q13 // 84771 /// NR_051986 // DDX11L5 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 // 9p24.3 // 100287596 /// ENST00000456328 // DDX11L1 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 // 1p36.33 // 100287102 /// ENST00000559159 // DDX11L9 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 // 15q26.3 // 100288486 /// ENST00000562189 // DDX11L9 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 // 15q26.3 // 100288486 /// ENST00000513886 // DDX11L10 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 10 // 16p13.3 // 100287029 /// ENST00000515242 // DDX11L1 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 // 1p36.33 // 100287102 /// ENST00000518655 // DDX11L1 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 // 1p36.33 // 100287102 /// ENST00000515173 // DDX11L9 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 // 15q26.3 // 100288486 /// ENST00000545636 // DDX11L10 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 10 // 16p13.3 // 100287029 /// ENST00000450305 // DDX11L1 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 // 1p36.33 // 100287102 /// ENST00000560040 // DDX11L9 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 // 15q26.3 // 100288486 /// ENST00000430178 // DDX11L10 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 10 // 16p13.3 // 100287029 /// ENST00000538648 // DDX11L9 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 // 15q26.3 // 100288486 /// ENST00000535848 // DDX11L2 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2 // --- // --- /// ENST00000457993 // DDX11L2 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2 // --- // --- /// ENST00000437401 // DDX11L2 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2 // --- // --- /// ENST00000426146 // DDX11L5 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 // --- // --- /// ENST00000445777 // DDX11L16 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 16 // --- // --- /// ENST00000507418 // DDX11L16 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 16 // --- // --- /// ENST00000507418 // DDX11L16 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 16 // --- // --- /// ENST00000507418 // DDX11L16 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 16 // --- // --- /// ENST00000507418 // DDX11L16 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 16 // --- // --- /// ENST00000421620 // DDX11L5 // DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 // --- // ---', 'ENST00000473358 // MIR1302-11 // microRNA 1302-11 // --- // 100422919 /// ENST00000473358 // MIR1302-10 // microRNA 1302-10 // --- // 100422834 /// ENST00000473358 // MIR1302-9 // microRNA 1302-9 // --- // 100422831 /// ENST00000473358 // MIR1302-2 // microRNA 1302-2 // --- // 100302278', 'NM_001005484 // OR4F5 // olfactory receptor, family 4, subfamily F, member 5 // 1p36.33 // 79501 /// ENST00000335137 // OR4F5 // olfactory receptor, family 4, subfamily F, member 5 // 1p36.33 // 79501', '---', 'AK302511 // LOC100132062 // uncharacterized LOC100132062 // 5q35.3 // 100132062 /// AK294489 // LOC729737 // uncharacterized LOC729737 // 1p36.33 // 729737 /// AK303380 // LOC100132062 // uncharacterized LOC100132062 // 5q35.3 // 100132062 /// AK316554 // LOC100132062 // uncharacterized LOC100132062 // 5q35.3 // 100132062 /// AK316556 // LOC100132062 // uncharacterized LOC100132062 // 5q35.3 // 100132062 /// AK302573 // LOC729737 // uncharacterized LOC729737 // 1p36.33 // 729737 /// AK123446 // LOC441124 // uncharacterized LOC441124 // 1q42.11 // 441124 /// ENST00000425496 // LOC100506479 // uncharacterized LOC100506479 // --- // 100506479 /// ENST00000425496 // LOC100289306 // uncharacterized LOC100289306 // 7p11.2 // 100289306 /// ENST00000425496 // LOC100287894 // uncharacterized LOC100287894 // 7q11.21 // 100287894 /// ENST00000425496 // FLJ45445 // uncharacterized LOC399844 // 19p13.3 // 399844 /// ENST00000456623 // LOC100506479 // uncharacterized LOC100506479 // --- // 100506479 /// ENST00000456623 // LOC100289306 // uncharacterized LOC100289306 // 7p11.2 // 100289306 /// ENST00000456623 // LOC100287894 // uncharacterized LOC100287894 // 7q11.21 // 100287894 /// ENST00000456623 // FLJ45445 // uncharacterized LOC399844 // 19p13.3 // 399844 /// ENST00000418377 // LOC100506479 // uncharacterized LOC100506479 // --- // 100506479 /// ENST00000418377 // LOC100288102 // uncharacterized LOC100288102 // 1q42.11 // 100288102 /// ENST00000418377 // LOC731275 // uncharacterized LOC731275 // 1q43 // 731275 /// ENST00000534867 // LOC100506479 // uncharacterized LOC100506479 // --- // 100506479 /// ENST00000534867 // LOC100289306 // uncharacterized LOC100289306 // 7p11.2 // 100289306 /// ENST00000534867 // LOC100287894 // uncharacterized LOC100287894 // 7q11.21 // 100287894 /// ENST00000534867 // FLJ45445 // uncharacterized LOC399844 // 19p13.3 // 399844 /// ENST00000544678 // LOC100653346 // uncharacterized LOC100653346 // --- // 100653346 /// ENST00000544678 // LOC100653241 // uncharacterized LOC100653241 // --- // 100653241 /// ENST00000544678 // LOC100652945 // uncharacterized LOC100652945 // --- // 100652945 /// ENST00000544678 // LOC100508632 // uncharacterized LOC100508632 // --- // 100508632 /// ENST00000544678 // LOC100132050 // uncharacterized LOC100132050 // 7p11.2 // 100132050 /// ENST00000544678 // LOC100128326 // putative uncharacterized protein FLJ44672-like // 7p11.2 // 100128326 /// ENST00000419160 // LOC100506479 // uncharacterized LOC100506479 // --- // 100506479 /// ENST00000419160 // LOC100289306 // uncharacterized LOC100289306 // 7p11.2 // 100289306 /// ENST00000419160 // LOC100287894 // uncharacterized LOC100287894 // 7q11.21 // 100287894 /// ENST00000419160 // FLJ45445 // uncharacterized LOC399844 // 19p13.3 // 399844 /// ENST00000432964 // LOC100506479 // uncharacterized LOC100506479 // --- // 100506479 /// ENST00000432964 // LOC100289306 // uncharacterized LOC100289306 // 7p11.2 // 100289306 /// ENST00000432964 // LOC100287894 // uncharacterized LOC100287894 // 7q11.21 // 100287894 /// ENST00000432964 // FLJ45445 // uncharacterized LOC399844 // 19p13.3 // 399844 /// ENST00000423728 // LOC100506479 // uncharacterized LOC100506479 // --- // 100506479 /// ENST00000423728 // LOC100289306 // uncharacterized LOC100289306 // 7p11.2 // 100289306 /// ENST00000423728 // LOC100287894 // uncharacterized LOC100287894 // 7q11.21 // 100287894 /// ENST00000423728 // FLJ45445 // uncharacterized LOC399844 // 19p13.3 // 399844 /// ENST00000457364 // LOC100653346 // uncharacterized LOC100653346 // --- // 100653346 /// ENST00000457364 // LOC100653241 // uncharacterized LOC100653241 // --- // 100653241 /// ENST00000457364 // LOC100652945 // uncharacterized LOC100652945 // --- // 100652945 /// ENST00000457364 // LOC100508632 // uncharacterized LOC100508632 // --- // 100508632 /// ENST00000457364 // LOC100132050 // uncharacterized LOC100132050 // 7p11.2 // 100132050 /// ENST00000457364 // LOC100128326 // putative uncharacterized protein FLJ44672-like // 7p11.2 // 100128326 /// ENST00000438516 // LOC100653346 // uncharacterized LOC100653346 // --- // 100653346 /// ENST00000438516 // LOC100653241 // uncharacterized LOC100653241 // --- // 100653241 /// ENST00000438516 // LOC100652945 // uncharacterized LOC100652945 // --- // 100652945 /// ENST00000438516 // LOC100508632 // uncharacterized LOC100508632 // --- // 100508632 /// ENST00000438516 // LOC100132050 // uncharacterized LOC100132050 // 7p11.2 // 100132050 /// ENST00000438516 // LOC100128326 // putative uncharacterized protein FLJ44672-like // 7p11.2 // 100128326'], 'mrna_assignment': ['NR_046018 // RefSeq // Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 (DDX11L1), non-coding RNA. // chr1 // 100 // 100 // 25 // 25 // 0 /// NR_034090 // RefSeq // Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 (DDX11L9), transcript variant 1, non-coding RNA. // chr1 // 96 // 100 // 24 // 25 // 0 /// NR_051985 // RefSeq // Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 (DDX11L9), transcript variant 2, non-coding RNA. // chr1 // 96 // 100 // 24 // 25 // 0 /// NR_045117 // RefSeq // Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 10 (DDX11L10), non-coding RNA. // chr1 // 92 // 96 // 22 // 24 // 0 /// NR_024004 // RefSeq // Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2 (DDX11L2), transcript variant 1, non-coding RNA. // chr1 // 83 // 96 // 20 // 24 // 0 /// NR_024005 // RefSeq // Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA. // chr1 // 83 // 96 // 20 // 24 // 0 /// NR_051986 // RefSeq // Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 (DDX11L5), non-coding RNA. // chr1 // 50 // 96 // 12 // 24 // 0 /// TCONS_l2_00010384-XLOC_l2_005087 // Broad TUCP // linc-SNRNP25-2 chr16:+:61554-64041 // chr1 // 92 // 96 // 22 // 24 // 0 /// TCONS_l2_00010385-XLOC_l2_005087 // Broad TUCP // linc-SNRNP25-2 chr16:+:61554-64090 // chr1 // 92 // 96 // 22 // 24 // 0 /// TCONS_l2_00030644-XLOC_l2_015857 // Broad TUCP // linc-TMLHE chrX:-:155255810-155257756 // chr1 // 50 // 96 // 12 // 24 // 0 /// TCONS_l2_00028588-XLOC_l2_014685 // Broad TUCP // linc-DOCK8-2 chr9:+:11235-13811 // chr1 // 50 // 64 // 8 // 16 // 0 /// TCONS_l2_00030643-XLOC_l2_015857 // Broad TUCP // linc-TMLHE chrX:-:155255810-155257756 // chr1 // 50 // 64 // 8 // 16 // 0 /// ENST00000456328 // ENSEMBL // cdna:known chromosome:GRCh37:1:11869:14409:1 gene:ENSG00000223972 gene_biotype:pseudogene transcript_biotype:processed_transcript // chr1 // 100 // 100 // 25 // 25 // 0 /// ENST00000559159 // ENSEMBL // cdna:known chromosome:GRCh37:15:102516761:102519296:-1 gene:ENSG00000248472 gene_biotype:pseudogene transcript_biotype:processed_transcript // chr1 // 96 // 100 // 24 // 25 // 0 /// ENST00000562189 // ENSEMBL // cdna:known chromosome:GRCh37:15:102516761:102519296:-1 gene:ENSG00000248472 gene_biotype:pseudogene transcript_biotype:processed_transcript // chr1 // 96 // 100 // 24 // 25 // 0 /// ENST00000513886 // ENSEMBL // cdna:known chromosome:GRCh37:16:61555:64090:1 gene:ENSG00000233614 gene_biotype:pseudogene transcript_biotype:processed_transcript // chr1 // 92 // 96 // 22 // 24 // 0 /// AK125998 // GenBank // Homo sapiens cDNA FLJ44010 fis, clone TESTI4024344. // chr1 // 50 // 96 // 12 // 24 // 0 /// BC070227 // GenBank // Homo sapiens similar to DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 isoform 1, mRNA (cDNA clone IMAGE:6103207). // chr1 // 100 // 44 // 11 // 11 // 0 /// ENST00000515242 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:1:11872:14412:1 gene:ENSG00000223972 gene_biotype:pseudogene transcript_biotype:transcribed_unprocessed_pseudogene // chr1 // 100 // 100 // 25 // 25 // 0 /// ENST00000518655 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:1:11874:14409:1 gene:ENSG00000223972 gene_biotype:pseudogene transcript_biotype:transcribed_unprocessed_pseudogene // chr1 // 100 // 100 // 25 // 25 // 0 /// ENST00000515173 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:15:102516758:102519298:-1 gene:ENSG00000248472 gene_biotype:pseudogene transcript_biotype:transcribed_unprocessed_pseudogene // chr1 // 96 // 100 // 24 // 25 // 0 /// ENST00000545636 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:16:61553:64093:1 gene:ENSG00000233614 gene_biotype:pseudogene transcript_biotype:transcribed_unprocessed_pseudogene // chr1 // 92 // 96 // 22 // 24 // 0 /// ENST00000450305 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:1:12010:13670:1 gene:ENSG00000223972 gene_biotype:pseudogene transcript_biotype:transcribed_unprocessed_pseudogene // chr1 // 100 // 68 // 17 // 17 // 0 /// ENST00000560040 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:15:102517497:102518994:-1 gene:ENSG00000248472 gene_biotype:pseudogene transcript_biotype:transcribed_unprocessed_pseudogene // chr1 // 94 // 68 // 16 // 17 // 0 /// ENST00000430178 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:16:61861:63351:1 gene:ENSG00000233614 gene_biotype:pseudogene transcript_biotype:transcribed_unprocessed_pseudogene // chr1 // 88 // 64 // 14 // 16 // 0 /// ENST00000538648 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:15:102517351:102517622:-1 gene:ENSG00000248472 gene_biotype:pseudogene transcript_biotype:pseudogene // chr1 // 100 // 16 // 4 // 4 // 0 /// ENST00000535848 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:2:114356606:114359144:-1 gene:ENSG00000236397 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 83 // 96 // 20 // 24 // 0 /// ENST00000457993 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:2:114356613:114358838:-1 gene:ENSG00000236397 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 85 // 80 // 17 // 20 // 0 /// ENST00000437401 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:2:114356613:114358838:-1 gene:ENSG00000236397 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 80 // 80 // 16 // 20 // 0 /// ENST00000426146 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:9:11987:14522:1 gene:ENSG00000236875 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 50 // 96 // 12 // 24 // 0 /// ENST00000445777 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:X:155255323:155257848:-1 gene:ENSG00000227159 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 50 // 96 // 12 // 24 // 0 /// ENST00000507418 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:X:155255329:155257542:-1 gene:ENSG00000227159 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 50 // 64 // 8 // 16 // 0 /// ENST00000421620 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:9:12134:13439:1 gene:ENSG00000236875 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 100 // 12 // 3 // 3 // 0 /// GENSCAN00000003613 // ENSEMBL // cdna:genscan chromosome:GRCh37:15:102517021:102518980:-1 transcript_biotype:protein_coding // chr1 // 100 // 52 // 13 // 13 // 0 /// GENSCAN00000026650 // ENSEMBL // cdna:genscan chromosome:GRCh37:1:12190:14149:1 transcript_biotype:protein_coding // chr1 // 100 // 52 // 13 // 13 // 0 /// GENSCAN00000029586 // ENSEMBL // cdna:genscan chromosome:GRCh37:16:61871:63830:1 transcript_biotype:protein_coding // chr1 // 100 // 48 // 12 // 12 // 0 /// ENST00000535849 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:12:92239:93430:-1 gene:ENSG00000256263 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 38 // 32 // 3 // 8 // 1 /// ENST00000575871 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:HG858_PATCH:62310:63501:1 gene:ENSG00000262195 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 38 // 32 // 3 // 8 // 1 /// ENST00000572276 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:HSCHR12_1_CTG1:62310:63501:1 gene:ENSG00000263289 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 38 // 32 // 3 // 8 // 1 /// GENSCAN00000048516 // ENSEMBL // cdna:genscan chromosome:GRCh37:HG858_PATCH:62740:64276:1 transcript_biotype:protein_coding // chr1 // 25 // 48 // 3 // 12 // 1 /// GENSCAN00000048612 // ENSEMBL // cdna:genscan chromosome:GRCh37:HSCHR12_1_CTG1:62740:64276:1 transcript_biotype:protein_coding // chr1 // 25 // 48 // 3 // 12 // 1', 'ENST00000473358 // ENSEMBL // cdna:known chromosome:GRCh37:1:29554:31097:1 gene:ENSG00000243485 gene_biotype:antisense transcript_biotype:antisense // chr1 // 100 // 71 // 20 // 20 // 0', 'NM_001005484 // RefSeq // Homo sapiens olfactory receptor, family 4, subfamily F, member 5 (OR4F5), mRNA. // chr1 // 100 // 100 // 8 // 8 // 0 /// ENST00000335137 // ENSEMBL // cdna:known chromosome:GRCh37:1:69091:70008:1 gene:ENSG00000186092 gene_biotype:protein_coding transcript_biotype:protein_coding // chr1 // 100 // 100 // 8 // 8 // 0', 'TCONS_00000119-XLOC_000001 // Rinn lincRNA // linc-OR4F16-10 chr1:+:160445-161525 // chr1 // 100 // 100 // 13 // 13 // 0', 'AK302511 // GenBank // Homo sapiens cDNA FLJ61476 complete cds. // chr1 // 92 // 33 // 11 // 12 // 0 /// AK294489 // GenBank // Homo sapiens cDNA FLJ52615 complete cds. // chr1 // 77 // 36 // 10 // 13 // 0 /// AK303380 // GenBank // Homo sapiens cDNA FLJ53527 complete cds. // chr1 // 100 // 14 // 5 // 5 // 0 /// AK316554 // GenBank // Homo sapiens cDNA, FLJ79453 complete cds. // chr1 // 100 // 11 // 4 // 4 // 0 /// AK316556 // GenBank // Homo sapiens cDNA, FLJ79455 complete cds. // chr1 // 100 // 11 // 4 // 4 // 0 /// AK302573 // GenBank // Homo sapiens cDNA FLJ52612 complete cds. // chr1 // 80 // 14 // 4 // 5 // 0 /// TCONS_l2_00002815-XLOC_l2_001399 // Broad TUCP // linc-PLD5-5 chr1:-:243219130-243221165 // chr1 // 92 // 33 // 11 // 12 // 0 /// TCONS_l2_00001802-XLOC_l2_001332 // Broad TUCP // linc-TP53BP2-3 chr1:-:224139117-224140327 // chr1 // 100 // 14 // 5 // 5 // 0 /// TCONS_l2_00001804-XLOC_l2_001332 // Broad TUCP // linc-TP53BP2-3 chr1:-:224139117-224142371 // chr1 // 100 // 14 // 5 // 5 // 0 /// TCONS_00000120-XLOC_000002 // Rinn lincRNA // linc-OR4F16-9 chr1:+:320161-321056 // chr1 // 100 // 11 // 4 // 4 // 0 /// TCONS_l2_00002817-XLOC_l2_001399 // Broad TUCP // linc-PLD5-5 chr1:-:243220177-243221150 // chr1 // 100 // 6 // 2 // 2 // 0 /// TCONS_00000437-XLOC_000658 // Rinn lincRNA // linc-ZNF692-6 chr1:-:139789-140339 // chr1 // 100 // 6 // 2 // 2 // 0 /// AK299469 // GenBank // Homo sapiens cDNA FLJ52610 complete cds. // chr1 // 100 // 33 // 12 // 12 // 0 /// AK302889 // GenBank // Homo sapiens cDNA FLJ54896 complete cds. // chr1 // 100 // 22 // 8 // 8 // 0 /// AK123446 // GenBank // Homo sapiens cDNA FLJ41452 fis, clone BRSTN2010363. // chr1 // 100 // 19 // 7 // 7 // 0 /// ENST00000425496 // ENSEMBL // cdna:known chromosome:GRCh37:1:324756:328453:1 gene:ENSG00000237094 gene_biotype:processed_transcript transcript_biotype:processed_transcript // chr1 // 100 // 33 // 13 // 12 // 0 /// ENST00000456623 // ENSEMBL // cdna:known chromosome:GRCh37:1:324515:326852:1 gene:ENSG00000237094 gene_biotype:processed_transcript transcript_biotype:processed_transcript // chr1 // 100 // 33 // 12 // 12 // 0 /// ENST00000418377 // ENSEMBL // cdna:known chromosome:GRCh37:1:243219131:243221165:-1 gene:ENSG00000214837 gene_biotype:processed_transcript transcript_biotype:processed_transcript // chr1 // 92 // 33 // 11 // 12 // 0 /// ENST00000534867 // ENSEMBL // cdna:known chromosome:GRCh37:1:324438:325896:1 gene:ENSG00000237094 gene_biotype:processed_transcript transcript_biotype:processed_transcript // chr1 // 100 // 28 // 10 // 10 // 0 /// ENST00000544678 // ENSEMBL // cdna:known chromosome:GRCh37:5:180751053:180752511:1 gene:ENSG00000238035 gene_biotype:protein_coding transcript_biotype:protein_coding // chr1 // 100 // 22 // 8 // 8 // 0 /// ENST00000419160 // ENSEMBL // cdna:known chromosome:GRCh37:1:322732:324955:1 gene:ENSG00000237094 gene_biotype:processed_transcript transcript_biotype:processed_transcript // chr1 // 100 // 17 // 6 // 6 // 0 /// ENST00000432964 // ENSEMBL // cdna:known chromosome:GRCh37:1:320162:321056:1 gene:ENSG00000237094 gene_biotype:processed_transcript transcript_biotype:processed_transcript // chr1 // 100 // 11 // 4 // 4 // 0 /// ENST00000423728 // ENSEMBL // cdna:known chromosome:GRCh37:1:320162:324461:1 gene:ENSG00000237094 gene_biotype:processed_transcript transcript_biotype:processed_transcript // chr1 // 100 // 11 // 4 // 4 // 0 /// BC092421 // GenBank // Homo sapiens cDNA clone IMAGE:30378758. // chr1 // 100 // 33 // 12 // 12 // 0 /// ENST00000426316 // ENSEMBL // cdna:known chromosome:GRCh37:1:317811:328455:1 gene:ENSG00000240876 gene_biotype:processed_transcript transcript_biotype:processed_transcript // chr1 // 100 // 8 // 3 // 3 // 0 /// ENST00000465971 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:7:128291239:128292388:1 gene:ENSG00000243302 gene_biotype:pseudogene transcript_biotype:processed_pseudogene // chr1 // 100 // 31 // 11 // 11 // 0 /// ENST00000535314 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:7:128291243:128292355:1 gene:ENSG00000243302 gene_biotype:pseudogene transcript_biotype:processed_pseudogene // chr1 // 100 // 31 // 11 // 11 // 0 /// ENST00000423372 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:1:134901:139379:-1 gene:ENSG00000237683 gene_biotype:pseudogene transcript_biotype:processed_pseudogene // chr1 // 90 // 28 // 9 // 10 // 0 /// ENST00000435839 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:1:137283:139620:-1 gene:ENSG00000237683 gene_biotype:pseudogene transcript_biotype:processed_pseudogene // chr1 // 90 // 28 // 9 // 10 // 0 /// ENST00000537461 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:1:138239:139697:-1 gene:ENSG00000237683 gene_biotype:pseudogene transcript_biotype:processed_pseudogene // chr1 // 100 // 19 // 7 // 7 // 0 /// ENST00000494149 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:1:135247:138039:-1 gene:ENSG00000237683 gene_biotype:pseudogene transcript_biotype:processed_pseudogene // chr1 // 100 // 8 // 3 // 3 // 0 /// ENST00000514436 // ENSEMBL // cdna:pseudogene chromosome:GRCh37:1:326096:328112:1 gene:ENSG00000250575 gene_biotype:pseudogene transcript_biotype:unprocessed_pseudogene // chr1 // 100 // 8 // 3 // 3 // 0 /// ENST00000457364 // ENSEMBL // cdna:known chromosome:GRCh37:5:180751371:180755068:1 gene:ENSG00000238035 gene_biotype:protein_coding transcript_biotype:protein_coding // chr1 // 100 // 28 // 11 // 10 // 0 /// ENST00000438516 // ENSEMBL // cdna:known chromosome:GRCh37:5:180751130:180753467:1 gene:ENSG00000238035 gene_biotype:protein_coding transcript_biotype:protein_coding // chr1 // 100 // 28 // 10 // 10 // 0 /// ENST00000526704 // ENSEMBL // ensembl_havana_lincrna:lincRNA chromosome:GRCh37:11:129531:139099:-1 gene:ENSG00000230724 gene_biotype:lincRNA transcript_biotype:processed_transcript // chr1 // 93 // 42 // 14 // 15 // 0 /// ENST00000540375 // ENSEMBL // ensembl_havana_lincrna:lincRNA chromosome:GRCh37:11:127115:131056:-1 gene:ENSG00000230724 gene_biotype:lincRNA transcript_biotype:processed_transcript // chr1 // 100 // 28 // 11 // 10 // 0 /// ENST00000457006 // ENSEMBL // ensembl_havana_lincrna:lincRNA chromosome:GRCh37:11:128960:131297:-1 gene:ENSG00000230724 gene_biotype:lincRNA transcript_biotype:processed_transcript // chr1 // 90 // 28 // 9 // 10 // 0 /// ENST00000427071 // ENSEMBL // ensembl_havana_lincrna:lincRNA chromosome:GRCh37:11:130207:131297:-1 gene:ENSG00000230724 gene_biotype:lincRNA transcript_biotype:processed_transcript // chr1 // 100 // 25 // 9 // 9 // 0 /// ENST00000542435 // ENSEMBL // ensembl_havana_lincrna:lincRNA chromosome:GRCh37:11:129916:131374:-1 gene:ENSG00000230724 gene_biotype:lincRNA transcript_biotype:processed_transcript // chr1 // 100 // 22 // 8 // 8 // 0'], 'swissprot': ['NR_046018 // B7ZGW9 /// NR_046018 // B7ZGX0 /// NR_046018 // B7ZGX2 /// NR_046018 // B7ZGX3 /// NR_046018 // B7ZGX5 /// NR_046018 // B7ZGX6 /// NR_046018 // B7ZGX7 /// NR_046018 // B7ZGX8 /// NR_046018 // B7ZGX9 /// NR_046018 // B7ZGY0 /// NR_034090 // B7ZGW9 /// NR_034090 // B7ZGX0 /// NR_034090 // B7ZGX2 /// NR_034090 // B7ZGX3 /// NR_034090 // B7ZGX5 /// NR_034090 // B7ZGX6 /// NR_034090 // B7ZGX7 /// NR_034090 // B7ZGX8 /// NR_034090 // B7ZGX9 /// NR_034090 // B7ZGY0 /// NR_051985 // B7ZGW9 /// NR_051985 // B7ZGX0 /// NR_051985 // B7ZGX2 /// NR_051985 // B7ZGX3 /// NR_051985 // B7ZGX5 /// NR_051985 // B7ZGX6 /// NR_051985 // B7ZGX7 /// NR_051985 // B7ZGX8 /// NR_051985 // B7ZGX9 /// NR_051985 // B7ZGY0 /// NR_045117 // B7ZGW9 /// NR_045117 // B7ZGX0 /// NR_045117 // B7ZGX2 /// NR_045117 // B7ZGX3 /// NR_045117 // B7ZGX5 /// NR_045117 // B7ZGX6 /// NR_045117 // B7ZGX7 /// NR_045117 // B7ZGX8 /// NR_045117 // B7ZGX9 /// NR_045117 // B7ZGY0 /// NR_024005 // B7ZGW9 /// NR_024005 // B7ZGX0 /// NR_024005 // B7ZGX2 /// NR_024005 // B7ZGX3 /// NR_024005 // B7ZGX5 /// NR_024005 // B7ZGX6 /// NR_024005 // B7ZGX7 /// NR_024005 // B7ZGX8 /// NR_024005 // B7ZGX9 /// NR_024005 // B7ZGY0 /// NR_051986 // B7ZGW9 /// NR_051986 // B7ZGX0 /// NR_051986 // B7ZGX2 /// NR_051986 // B7ZGX3 /// NR_051986 // B7ZGX5 /// NR_051986 // B7ZGX6 /// NR_051986 // B7ZGX7 /// NR_051986 // B7ZGX8 /// NR_051986 // B7ZGX9 /// NR_051986 // B7ZGY0 /// AK125998 // Q6ZU42 /// AK125998 // B7ZGW9 /// AK125998 // B7ZGX0 /// AK125998 // B7ZGX2 /// AK125998 // B7ZGX3 /// AK125998 // B7ZGX5 /// AK125998 // B7ZGX6 /// AK125998 // B7ZGX7 /// AK125998 // B7ZGX8 /// AK125998 // B7ZGX9 /// AK125998 // B7ZGY0', '---', '---', '---', 'AK302511 // B4DYM5 /// AK294489 // B4DGA0 /// AK294489 // Q6ZSN7 /// AK303380 // B4E0H4 /// AK303380 // Q6ZQS4 /// AK303380 // A8E4K2 /// AK316554 // B4E3X0 /// AK316554 // Q6ZSN7 /// AK316556 // B4E3X2 /// AK316556 // Q6ZSN7 /// AK302573 // B7Z7W4 /// AK302573 // Q6ZQS4 /// AK302573 // A8E4K2 /// AK299469 // B7Z5V7 /// AK299469 // Q6ZSN7 /// AK302889 // B7Z846 /// AK302889 // Q6ZSN7 /// AK123446 // B3KVU4'], 'unigene': ['NR_046018 // Hs.714157 // testis| normal| adult /// NR_034090 // Hs.644359 // blood| normal| adult /// NR_051985 // Hs.644359 // blood| normal| adult /// NR_045117 // Hs.592089 // brain| glioma /// NR_024004 // Hs.712940 // bladder| bone marrow| brain| embryonic tissue| intestine| mammary gland| muscle| pharynx| placenta| prostate| skin| spleen| stomach| testis| thymus| breast (mammary gland) tumor| gastrointestinal tumor| glioma| non-neoplasia| normal| prostate cancer| skin tumor| soft tissue/muscle tissue tumor|embryoid body| adult /// NR_024005 // Hs.712940 // bladder| bone marrow| brain| embryonic tissue| intestine| mammary gland| muscle| pharynx| placenta| prostate| skin| spleen| stomach| testis| thymus| breast (mammary gland) tumor| gastrointestinal tumor| glioma| non-neoplasia| normal| prostate cancer| skin tumor| soft tissue/muscle tissue tumor|embryoid body| adult /// NR_051986 // Hs.719844 // brain| normal /// ENST00000456328 // Hs.714157 // testis| normal| adult /// ENST00000559159 // Hs.644359 // blood| normal| adult /// ENST00000562189 // Hs.644359 // blood| normal| adult /// ENST00000513886 // Hs.592089 // brain| glioma /// ENST00000515242 // Hs.714157 // testis| normal| adult /// ENST00000518655 // Hs.714157 // testis| normal| adult /// ENST00000515173 // Hs.644359 // blood| normal| adult /// ENST00000545636 // Hs.592089 // brain| glioma /// ENST00000450305 // Hs.714157 // testis| normal| adult /// ENST00000560040 // Hs.644359 // blood| normal| adult /// ENST00000430178 // Hs.592089 // brain| glioma /// ENST00000538648 // Hs.644359 // blood| normal| adult', '---', 'NM_001005484 // Hs.554500 // --- /// ENST00000335137 // Hs.554500 // ---', '---', 'AK302511 // Hs.732199 // ascites| blood| brain| connective tissue| embryonic tissue| eye| intestine| kidney| larynx| lung| ovary| placenta| prostate| stomach| testis| thymus| uterus| chondrosarcoma| colorectal tumor| gastrointestinal tumor| head and neck tumor| leukemia| lung tumor| normal| ovarian tumor| fetus| adult /// AK294489 // Hs.534942 // blood| brain| embryonic tissue| intestine| lung| mammary gland| mouth| ovary| pancreas| pharynx| placenta| spleen| stomach| testis| thymus| trachea| breast (mammary gland) tumor| colorectal tumor| head and neck tumor| leukemia| lung tumor| normal| ovarian tumor|embryoid body| blastocyst| fetus| adult /// AK294489 // Hs.734488 // blood| brain| esophagus| intestine| kidney| lung| mammary gland| mouth| placenta| prostate| testis| thymus| thyroid| uterus| breast (mammary gland) tumor| colorectal tumor| esophageal tumor| head and neck tumor| kidney tumor| leukemia| lung tumor| normal| adult /// AK303380 // Hs.732199 // ascites| blood| brain| connective tissue| embryonic tissue| eye| intestine| kidney| larynx| lung| ovary| placenta| prostate| stomach| testis| thymus| uterus| chondrosarcoma| colorectal tumor| gastrointestinal tumor| head and neck tumor| leukemia| lung tumor| normal| ovarian tumor| fetus| adult /// AK316554 // Hs.732199 // ascites| blood| brain| connective tissue| embryonic tissue| eye| intestine| kidney| larynx| lung| ovary| placenta| prostate| stomach| testis| thymus| uterus| chondrosarcoma| colorectal tumor| gastrointestinal tumor| head and neck tumor| leukemia| lung tumor| normal| ovarian tumor| fetus| adult /// AK316556 // Hs.732199 // ascites| blood| brain| connective tissue| embryonic tissue| eye| intestine| kidney| larynx| lung| ovary| placenta| prostate| stomach| testis| thymus| uterus| chondrosarcoma| colorectal tumor| gastrointestinal tumor| head and neck tumor| leukemia| lung tumor| normal| ovarian tumor| fetus| adult /// AK302573 // Hs.534942 // blood| brain| embryonic tissue| intestine| lung| mammary gland| mouth| ovary| pancreas| pharynx| placenta| spleen| stomach| testis| thymus| trachea| breast (mammary gland) tumor| colorectal tumor| head and neck tumor| leukemia| lung tumor| normal| ovarian tumor|embryoid body| blastocyst| fetus| adult /// AK302573 // Hs.734488 // blood| brain| esophagus| intestine| kidney| lung| mammary gland| mouth| placenta| prostate| testis| thymus| thyroid| uterus| breast (mammary gland) tumor| colorectal tumor| esophageal tumor| head and neck tumor| kidney tumor| leukemia| lung tumor| normal| adult /// AK123446 // Hs.520589 // bladder| blood| bone| brain| embryonic tissue| intestine| kidney| liver| lung| lymph node| ovary| pancreas| parathyroid| placenta| testis| thyroid| uterus| colorectal tumor| glioma| head and neck tumor| kidney tumor| leukemia| liver tumor| normal| ovarian tumor| uterine tumor|embryoid body| fetus| adult /// ENST00000425496 // Hs.356758 // blood| bone| brain| cervix| connective tissue| embryonic tissue| intestine| kidney| lung| mammary gland| mouth| pancreas| pharynx| placenta| prostate| spleen| stomach| testis| trachea| uterus| vascular| breast (mammary gland) tumor| chondrosarcoma| colorectal tumor| gastrointestinal tumor| glioma| head and neck tumor| leukemia| lung tumor| normal| uterine tumor| adult /// ENST00000425496 // Hs.733048 // ascites| bladder| blood| brain| embryonic tissue| eye| intestine| kidney| larynx| liver| lung| mammary gland| mouth| pancreas| placenta| prostate| skin| stomach| testis| thymus| thyroid| trachea| uterus| bladder carcinoma| breast (mammary gland) tumor| colorectal tumor| gastrointestinal tumor| head and neck tumor| kidney tumor| leukemia| liver tumor| lung tumor| normal| pancreatic tumor| prostate cancer| retinoblastoma| skin tumor| soft tissue/muscle tissue tumor| uterine tumor|embryoid body| blastocyst| fetus| adult /// ENST00000456623 // Hs.356758 // blood| bone| brain| cervix| connective tissue| embryonic tissue| intestine| kidney| lung| mammary gland| mouth| pancreas| pharynx| placenta| prostate| spleen| stomach| testis| trachea| uterus| vascular| breast (mammary gland) tumor| chondrosarcoma| colorectal tumor| gastrointestinal tumor| glioma| head and neck tumor| leukemia| lung tumor| normal| uterine tumor| adult /// ENST00000456623 // Hs.733048 // ascites| bladder| blood| brain| embryonic tissue| eye| intestine| kidney| larynx| liver| lung| mammary gland| mouth| pancreas| placenta| prostate| skin| stomach| testis| thymus| thyroid| trachea| uterus| bladder carcinoma| breast (mammary gland) tumor| colorectal tumor| gastrointestinal tumor| head and neck tumor| kidney tumor| leukemia| liver tumor| lung tumor| normal| pancreatic tumor| prostate cancer| retinoblastoma| skin tumor| soft tissue/muscle tissue tumor| uterine tumor|embryoid body| blastocyst| fetus| adult /// ENST00000534867 // Hs.356758 // blood| bone| brain| cervix| connective tissue| embryonic tissue| intestine| kidney| lung| mammary gland| mouth| pancreas| pharynx| placenta| prostate| spleen| stomach| testis| trachea| uterus| vascular| breast (mammary gland) tumor| chondrosarcoma| colorectal tumor| gastrointestinal tumor| glioma| head and neck tumor| leukemia| lung tumor| normal| uterine tumor| adult /// ENST00000534867 // Hs.733048 // ascites| bladder| blood| brain| embryonic tissue| eye| intestine| kidney| larynx| liver| lung| mammary gland| mouth| pancreas| placenta| prostate| skin| stomach| testis| thymus| thyroid| trachea| uterus| bladder carcinoma| breast (mammary gland) tumor| colorectal tumor| gastrointestinal tumor| head and neck tumor| kidney tumor| leukemia| liver tumor| lung tumor| normal| pancreatic tumor| prostate cancer| retinoblastoma| skin tumor| soft tissue/muscle tissue tumor| uterine tumor|embryoid body| blastocyst| fetus| adult /// ENST00000419160 // Hs.356758 // blood| bone| brain| cervix| connective tissue| embryonic tissue| intestine| kidney| lung| mammary gland| mouth| pancreas| pharynx| placenta| prostate| spleen| stomach| testis| trachea| uterus| vascular| breast (mammary gland) tumor| chondrosarcoma| colorectal tumor| gastrointestinal tumor| glioma| head and neck tumor| leukemia| lung tumor| normal| uterine tumor| adult /// ENST00000419160 // Hs.733048 // ascites| bladder| blood| brain| embryonic tissue| eye| intestine| kidney| larynx| liver| lung| mammary gland| mouth| pancreas| placenta| prostate| skin| stomach| testis| thymus| thyroid| trachea| uterus| bladder carcinoma| breast (mammary gland) tumor| colorectal tumor| gastrointestinal tumor| head and neck tumor| kidney tumor| leukemia| liver tumor| lung tumor| normal| pancreatic tumor| prostate cancer| retinoblastoma| skin tumor| soft tissue/muscle tissue tumor| uterine tumor|embryoid body| blastocyst| fetus| adult /// ENST00000432964 // Hs.356758 // blood| bone| brain| cervix| connective tissue| embryonic tissue| intestine| kidney| lung| mammary gland| mouth| pancreas| pharynx| placenta| prostate| spleen| stomach| testis| trachea| uterus| vascular| breast (mammary gland) tumor| chondrosarcoma| colorectal tumor| gastrointestinal tumor| glioma| head and neck tumor| leukemia| lung tumor| normal| uterine tumor| adult /// ENST00000432964 // Hs.733048 // ascites| bladder| blood| brain| embryonic tissue| eye| intestine| kidney| larynx| liver| lung| mammary gland| mouth| pancreas| placenta| prostate| skin| stomach| testis| thymus| thyroid| trachea| uterus| bladder carcinoma| breast (mammary gland) tumor| colorectal tumor| gastrointestinal tumor| head and neck tumor| kidney tumor| leukemia| liver tumor| lung tumor| normal| pancreatic tumor| prostate cancer| retinoblastoma| skin tumor| soft tissue/muscle tissue tumor| uterine tumor|embryoid body| blastocyst| fetus| adult /// ENST00000423728 // Hs.356758 // blood| bone| brain| cervix| connective tissue| embryonic tissue| intestine| kidney| lung| mammary gland| mouth| pancreas| pharynx| placenta| prostate| spleen| stomach| testis| trachea| uterus| vascular| breast (mammary gland) tumor| chondrosarcoma| colorectal tumor| gastrointestinal tumor| glioma| head and neck tumor| leukemia| lung tumor| normal| uterine tumor| adult /// ENST00000423728 // Hs.733048 // ascites| bladder| blood| brain| embryonic tissue| eye| intestine| kidney| larynx| liver| lung| mammary gland| mouth| pancreas| placenta| prostate| skin| stomach| testis| thymus| thyroid| trachea| uterus| bladder carcinoma| breast (mammary gland) tumor| colorectal tumor| gastrointestinal tumor| head and neck tumor| kidney tumor| leukemia| liver tumor| lung tumor| normal| pancreatic tumor| prostate cancer| retinoblastoma| skin tumor| soft tissue/muscle tissue tumor| uterine tumor|embryoid body| blastocyst| fetus| adult'], 'GO_biological_process': ['---', '---', '---', '---', '---'], 'GO_cellular_component': ['---', '---', 'NM_001005484 // GO:0005886 // plasma membrane // traceable author statement /// NM_001005484 // GO:0016021 // integral to membrane // inferred from electronic annotation /// ENST00000335137 // GO:0005886 // plasma membrane // traceable author statement /// ENST00000335137 // GO:0016021 // integral to membrane // inferred from electronic annotation', '---', '---'], 'GO_molecular_function': ['---', '---', 'NM_001005484 // GO:0004930 // G-protein coupled receptor activity // inferred from electronic annotation /// NM_001005484 // GO:0004984 // olfactory receptor activity // inferred from electronic annotation /// ENST00000335137 // GO:0004930 // G-protein coupled receptor activity // inferred from electronic annotation /// ENST00000335137 // GO:0004984 // olfactory receptor activity // inferred from electronic annotation', '---', '---'], 'pathway': ['---', '---', '---', '---', '---'], 'protein_domains': ['---', '---', 'ENST00000335137 // Pfam // IPR000276 // GPCR, rhodopsin-like, 7TM /// ENST00000335137 // Pfam // IPR019424 // 7TM GPCR, olfactory receptor/chemoreceptor Srsx', '---', '---'], 'crosshyb_type': ['3', '3', '3', '3', '3'], 'category': ['main', 'main', 'main', 'main', 'main'], 'GB_ACC': ['NR_046018', nan, 'NM_001005484', nan, 'AK302511'], 'SPOT_ID': [nan, 'ENST00000473358', nan, 'TCONS_00000119-XLOC_000001', nan]}\n"
]
}
],
"source": [
"# 1. First get the file paths using geo_get_relevant_filepaths function\n",
"soft_file, matrix_file = geo_get_relevant_filepaths(in_cohort_dir)\n",
"\n",
"# 2. Use the 'get_gene_annotation' function from the library to get gene annotation data from the SOFT file.\n",
"gene_annotation = get_gene_annotation(soft_file)\n",
"\n",
"# 3. Use the 'preview_df' function from the library to preview the data and print out the results.\n",
"print(\"Gene annotation preview:\")\n",
"print(preview_df(gene_annotation))\n"
]
},
{
"cell_type": "markdown",
"id": "fc844259",
"metadata": {},
"source": [
"### Step 6: Gene Identifier Mapping"
]
},
{
"cell_type": "code",
"execution_count": 7,
"id": "43030b44",
"metadata": {
"execution": {
"iopub.execute_input": "2025-03-25T06:23:44.649793Z",
"iopub.status.busy": "2025-03-25T06:23:44.649682Z",
"iopub.status.idle": "2025-03-25T06:23:45.328250Z",
"shell.execute_reply": "2025-03-25T06:23:45.327797Z"
}
},
"outputs": [
{
"name": "stdout",
"output_type": "stream",
"text": [
"Shape of gene expression data after mapping: (81076, 30)\n",
"First 10 gene symbols after mapping:\n",
"Index(['A-', 'A-2', 'A-52', 'A-E', 'A-I', 'A-II', 'A-IV', 'A-V', 'A0', 'A1'], dtype='object', name='Gene')\n"
]
}
],
"source": [
"# Looking at the gene identifiers in the gene expression data and the annotation data\n",
"# The gene expression data index contains values like '16657436', '16657440' which match\n",
"# the 'ID' column in the gene annotation dataframe\n",
"\n",
"# The gene symbol information is in the 'gene_assignment' column, which contains gene symbols\n",
"# like DDX11L1, OR4F5, etc.\n",
"\n",
"# 1. Identify the columns for probe ID and gene symbol\n",
"probe_id_column = 'ID' # This is the column with identifiers matching our gene expression data\n",
"gene_symbol_column = 'gene_assignment' # This column contains gene symbols\n",
"\n",
"# 2. Extract gene mapping dataframe using get_gene_mapping function\n",
"# This will create a dataframe with 'ID' and 'Gene' columns\n",
"mapping_df = get_gene_mapping(gene_annotation, probe_id_column, gene_symbol_column)\n",
"\n",
"# 3. Convert probe-level measurements to gene expression data\n",
"# The apply_gene_mapping function handles the many-to-many relationship\n",
"gene_data = apply_gene_mapping(gene_data, mapping_df)\n",
"\n",
"# Print information about the mapped gene data\n",
"print(f\"Shape of gene expression data after mapping: {gene_data.shape}\")\n",
"print(\"First 10 gene symbols after mapping:\")\n",
"print(gene_data.index[:10])\n"
]
},
{
"cell_type": "markdown",
"id": "8cf307fd",
"metadata": {},
"source": [
"### Step 7: Data Normalization and Linking"
]
},
{
"cell_type": "code",
"execution_count": 8,
"id": "d835a9f0",
"metadata": {
"execution": {
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"iopub.status.idle": "2025-03-25T06:23:56.200803Z",
"shell.execute_reply": "2025-03-25T06:23:56.200026Z"
}
},
"outputs": [
{
"name": "stdout",
"output_type": "stream",
"text": [
"Normalizing gene symbols...\n",
"Gene data shape after normalization: (23274, 30)\n"
]
},
{
"name": "stdout",
"output_type": "stream",
"text": [
"Normalized gene data saved to ../../output/preprocess/Allergies/gene_data/GSE203196.csv\n",
"Loading the original clinical data...\n",
"Extracting clinical features...\n",
"Clinical data preview:\n",
"{'GSM6161618': [1.0, 28.0, 0.0], 'GSM6161619': [1.0, 28.0, 0.0], 'GSM6161620': [1.0, 28.0, 0.0], 'GSM6161621': [1.0, 28.0, 0.0], 'GSM6161622': [1.0, 28.0, 0.0], 'GSM6161623': [1.0, 28.0, 0.0], 'GSM6161624': [1.0, 40.0, 0.0], 'GSM6161625': [1.0, 40.0, 0.0], 'GSM6161626': [1.0, 40.0, 0.0], 'GSM6161627': [0.0, 24.0, 1.0], 'GSM6161628': [0.0, 24.0, 1.0], 'GSM6161629': [0.0, 24.0, 1.0], 'GSM6161630': [1.0, 21.0, 0.0], 'GSM6161631': [1.0, 21.0, 0.0], 'GSM6161632': [1.0, 21.0, 0.0], 'GSM6161633': [1.0, 27.0, 0.0], 'GSM6161634': [1.0, 27.0, 0.0], 'GSM6161635': [1.0, 27.0, 0.0], 'GSM6161636': [1.0, 22.0, 0.0], 'GSM6161637': [1.0, 22.0, 0.0], 'GSM6161638': [1.0, 22.0, 0.0], 'GSM6161639': [1.0, 50.0, 1.0], 'GSM6161640': [1.0, 50.0, 1.0], 'GSM6161641': [1.0, 50.0, 1.0], 'GSM6161642': [0.0, 41.0, 0.0], 'GSM6161643': [0.0, 41.0, 0.0], 'GSM6161644': [0.0, 41.0, 0.0], 'GSM6161645': [0.0, 26.0, 0.0], 'GSM6161646': [0.0, 26.0, 0.0], 'GSM6161647': [0.0, 26.0, 0.0]}\n",
"Clinical data saved to ../../output/preprocess/Allergies/clinical_data/GSE203196.csv\n",
"Linking clinical and genetic data...\n",
"Linked data shape: (30, 23277)\n",
"Handling missing values...\n"
]
},
{
"name": "stdout",
"output_type": "stream",
"text": [
"Linked data shape after handling missing values: (30, 23277)\n",
"Checking for bias in trait distribution...\n",
"For the feature 'Allergies', the least common label is '0.0' with 9 occurrences. This represents 30.00% of the dataset.\n",
"The distribution of the feature 'Allergies' in this dataset is fine.\n",
"\n",
"Quartiles for 'Age':\n",
" 25%: 24.0\n",
" 50% (Median): 27.5\n",
" 75%: 40.0\n",
"Min: 21.0\n",
"Max: 50.0\n",
"The distribution of the feature 'Age' in this dataset is fine.\n",
"\n",
"For the feature 'Gender', the least common label is '1.0' with 6 occurrences. This represents 20.00% of the dataset.\n",
"The distribution of the feature 'Gender' in this dataset is fine.\n",
"\n",
"Dataset usability: True\n"
]
},
{
"name": "stdout",
"output_type": "stream",
"text": [
"Linked data saved to ../../output/preprocess/Allergies/GSE203196.csv\n"
]
}
],
"source": [
"# 1. Normalize gene symbols in the gene expression data\n",
"print(\"Normalizing gene symbols...\")\n",
"normalized_gene_data = normalize_gene_symbols_in_index(gene_data)\n",
"print(f\"Gene data shape after normalization: {normalized_gene_data.shape}\")\n",
"\n",
"# Save the normalized gene data to a CSV file\n",
"os.makedirs(os.path.dirname(out_gene_data_file), exist_ok=True)\n",
"normalized_gene_data.to_csv(out_gene_data_file)\n",
"print(f\"Normalized gene data saved to {out_gene_data_file}\")\n",
"\n",
"# 2. Link the clinical and genetic data\n",
"print(\"Loading the original clinical data...\")\n",
"# Get the matrix file again to ensure we have the proper data\n",
"soft_file, matrix_file = geo_get_relevant_filepaths(in_cohort_dir)\n",
"background_info, clinical_data = get_background_and_clinical_data(matrix_file)\n",
"\n",
"print(\"Extracting clinical features...\")\n",
"# Use the clinical_data obtained directly from the matrix file\n",
"selected_clinical_df = geo_select_clinical_features(\n",
" clinical_df=clinical_data,\n",
" trait=trait,\n",
" trait_row=trait_row,\n",
" convert_trait=convert_trait,\n",
" age_row=age_row,\n",
" convert_age=convert_age,\n",
" gender_row=gender_row,\n",
" convert_gender=convert_gender\n",
")\n",
"\n",
"print(\"Clinical data preview:\")\n",
"print(preview_df(selected_clinical_df))\n",
"\n",
"# Save the clinical data to a CSV file\n",
"os.makedirs(os.path.dirname(out_clinical_data_file), exist_ok=True)\n",
"selected_clinical_df.to_csv(out_clinical_data_file)\n",
"print(f\"Clinical data saved to {out_clinical_data_file}\")\n",
"\n",
"# Link clinical and genetic data using the normalized gene data\n",
"print(\"Linking clinical and genetic data...\")\n",
"linked_data = geo_link_clinical_genetic_data(selected_clinical_df, normalized_gene_data)\n",
"print(f\"Linked data shape: {linked_data.shape}\")\n",
"\n",
"# 3. Handle missing values in the linked data\n",
"print(\"Handling missing values...\")\n",
"linked_data = handle_missing_values(linked_data, trait)\n",
"print(f\"Linked data shape after handling missing values: {linked_data.shape}\")\n",
"\n",
"# 4. Check if trait is biased\n",
"print(\"Checking for bias in trait distribution...\")\n",
"is_biased, linked_data = judge_and_remove_biased_features(linked_data, trait)\n",
"\n",
"# 5. Final validation\n",
"note = \"Dataset contains gene expression data from patients with Essential Thrombocythemia (ET), Polycythemia Vera (PV), and Primary Myelofibrosis (PMF).\"\n",
"is_usable = validate_and_save_cohort_info(\n",
" is_final=True,\n",
" cohort=cohort,\n",
" info_path=json_path,\n",
" is_gene_available=is_gene_available,\n",
" is_trait_available=is_trait_available,\n",
" is_biased=is_biased,\n",
" df=linked_data,\n",
" note=note\n",
")\n",
"\n",
"print(f\"Dataset usability: {is_usable}\")\n",
"\n",
"# 6. Save linked data if usable\n",
"if is_usable:\n",
" os.makedirs(os.path.dirname(out_data_file), exist_ok=True)\n",
" linked_data.to_csv(out_data_file)\n",
" print(f\"Linked data saved to {out_data_file}\")\n",
"else:\n",
" print(\"Dataset is not usable for trait-gene association studies due to bias or other issues.\")"
]
}
],
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