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Gene: COL4A6 |
Gene summary for COL4A6 |
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Gene information | Species | Human | Gene symbol | COL4A6 | Gene ID | 1288 |
Gene name | collagen type IV alpha 6 chain | |
Gene Alias | CXDELq22.3 | |
Cytomap | Xq22.3 | |
Gene Type | protein-coding | GO ID | GO:0001101 | UniProtAcc | A8MXH5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1288 | COL4A6 | LZE4T | Human | Esophagus | ESCC | 1.38e-13 | 4.27e-01 | 0.0811 |
1288 | COL4A6 | LZE24T | Human | Esophagus | ESCC | 8.21e-08 | 3.75e-01 | 0.0596 |
1288 | COL4A6 | LZE6T | Human | Esophagus | ESCC | 2.77e-06 | 3.88e-01 | 0.0845 |
1288 | COL4A6 | P2T-E | Human | Esophagus | ESCC | 2.73e-08 | 3.04e-01 | 0.1177 |
1288 | COL4A6 | P4T-E | Human | Esophagus | ESCC | 1.36e-08 | 3.00e-01 | 0.1323 |
1288 | COL4A6 | P5T-E | Human | Esophagus | ESCC | 1.04e-07 | 2.15e-01 | 0.1327 |
1288 | COL4A6 | P8T-E | Human | Esophagus | ESCC | 3.67e-12 | 2.99e-01 | 0.0889 |
1288 | COL4A6 | P10T-E | Human | Esophagus | ESCC | 1.14e-14 | 3.11e-01 | 0.116 |
1288 | COL4A6 | P11T-E | Human | Esophagus | ESCC | 1.35e-03 | 2.15e-01 | 0.1426 |
1288 | COL4A6 | P12T-E | Human | Esophagus | ESCC | 5.93e-13 | 3.65e-01 | 0.1122 |
1288 | COL4A6 | P15T-E | Human | Esophagus | ESCC | 1.86e-07 | 1.70e-01 | 0.1149 |
1288 | COL4A6 | P16T-E | Human | Esophagus | ESCC | 2.46e-02 | 1.30e-01 | 0.1153 |
1288 | COL4A6 | P17T-E | Human | Esophagus | ESCC | 1.39e-04 | 1.68e-01 | 0.1278 |
1288 | COL4A6 | P20T-E | Human | Esophagus | ESCC | 1.91e-32 | 8.95e-01 | 0.1124 |
1288 | COL4A6 | P21T-E | Human | Esophagus | ESCC | 7.55e-12 | 2.75e-01 | 0.1617 |
1288 | COL4A6 | P22T-E | Human | Esophagus | ESCC | 1.82e-04 | 1.47e-01 | 0.1236 |
1288 | COL4A6 | P26T-E | Human | Esophagus | ESCC | 5.65e-52 | 9.44e-01 | 0.1276 |
1288 | COL4A6 | P27T-E | Human | Esophagus | ESCC | 7.09e-10 | 2.46e-01 | 0.1055 |
1288 | COL4A6 | P37T-E | Human | Esophagus | ESCC | 1.43e-24 | 5.57e-01 | 0.1371 |
1288 | COL4A6 | P40T-E | Human | Esophagus | ESCC | 2.45e-07 | 3.14e-01 | 0.109 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:00432007 | Esophagus | ESCC | response to amino acid | 74/8552 | 116/18723 | 6.23e-05 | 4.76e-04 | 74 |
GO:000110110 | Esophagus | ESCC | response to acid chemical | 84/8552 | 135/18723 | 7.70e-05 | 5.74e-04 | 84 |
GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:00712305 | Esophagus | ESCC | cellular response to amino acid stimulus | 48/8552 | 71/18723 | 1.55e-04 | 1.03e-03 | 48 |
GO:00712296 | Esophagus | ESCC | cellular response to acid chemical | 52/8552 | 80/18723 | 3.79e-04 | 2.20e-03 | 52 |
GO:00011019 | Oral cavity | OSCC | response to acid chemical | 74/7305 | 135/18723 | 1.38e-04 | 9.76e-04 | 74 |
GO:00432006 | Oral cavity | OSCC | response to amino acid | 64/7305 | 116/18723 | 2.96e-04 | 1.86e-03 | 64 |
GO:00712304 | Oral cavity | OSCC | cellular response to amino acid stimulus | 42/7305 | 71/18723 | 4.59e-04 | 2.76e-03 | 42 |
GO:00301983 | Oral cavity | OSCC | extracellular matrix organization | 146/7305 | 301/18723 | 4.67e-04 | 2.77e-03 | 146 |
GO:00452293 | Oral cavity | OSCC | external encapsulating structure organization | 147/7305 | 304/18723 | 5.30e-04 | 3.08e-03 | 147 |
GO:00430623 | Oral cavity | OSCC | extracellular structure organization | 146/7305 | 302/18723 | 5.59e-04 | 3.23e-03 | 146 |
GO:00712295 | Oral cavity | OSCC | cellular response to acid chemical | 46/7305 | 80/18723 | 6.08e-04 | 3.44e-03 | 46 |
GO:00011018 | Prostate | BPH | response to acid chemical | 37/3107 | 135/18723 | 1.03e-03 | 6.46e-03 | 37 |
GO:00712294 | Prostate | BPH | cellular response to acid chemical | 23/3107 | 80/18723 | 4.53e-03 | 2.19e-02 | 23 |
GO:00430621 | Prostate | BPH | extracellular structure organization | 67/3107 | 302/18723 | 6.67e-03 | 3.00e-02 | 67 |
GO:0038063 | Prostate | BPH | collagen-activated tyrosine kinase receptor signaling pathway | 6/3107 | 12/18723 | 7.73e-03 | 3.39e-02 | 6 |
GO:00301981 | Prostate | BPH | extracellular matrix organization | 66/3107 | 301/18723 | 9.20e-03 | 3.92e-02 | 66 |
GO:00712303 | Prostate | BPH | cellular response to amino acid stimulus | 20/3107 | 71/18723 | 9.89e-03 | 4.16e-02 | 20 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0516510 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa052229 | Esophagus | ESCC | Small cell lung cancer | 69/4205 | 92/8465 | 5.40e-07 | 3.85e-06 | 1.97e-06 | 69 |
hsa0493310 | Esophagus | ESCC | AGE-RAGE signaling pathway in diabetic complications | 72/4205 | 100/8465 | 4.15e-06 | 2.28e-05 | 1.17e-05 | 72 |
hsa0451020 | Esophagus | ESCC | Focal adhesion | 127/4205 | 203/8465 | 1.25e-04 | 4.99e-04 | 2.56e-04 | 127 |
hsa049268 | Esophagus | ESCC | Relaxin signaling pathway | 81/4205 | 129/8465 | 1.72e-03 | 5.09e-03 | 2.61e-03 | 81 |
hsa041517 | Esophagus | ESCC | PI3K-Akt signaling pathway | 197/4205 | 354/8465 | 1.24e-02 | 2.83e-02 | 1.45e-02 | 197 |
hsa0516515 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa0522216 | Esophagus | ESCC | Small cell lung cancer | 69/4205 | 92/8465 | 5.40e-07 | 3.85e-06 | 1.97e-06 | 69 |
hsa0493317 | Esophagus | ESCC | AGE-RAGE signaling pathway in diabetic complications | 72/4205 | 100/8465 | 4.15e-06 | 2.28e-05 | 1.17e-05 | 72 |
hsa04510111 | Esophagus | ESCC | Focal adhesion | 127/4205 | 203/8465 | 1.25e-04 | 4.99e-04 | 2.56e-04 | 127 |
hsa0492616 | Esophagus | ESCC | Relaxin signaling pathway | 81/4205 | 129/8465 | 1.72e-03 | 5.09e-03 | 2.61e-03 | 81 |
hsa0415114 | Esophagus | ESCC | PI3K-Akt signaling pathway | 197/4205 | 354/8465 | 1.24e-02 | 2.83e-02 | 1.45e-02 | 197 |
hsa051659 | Oral cavity | OSCC | Human papillomavirus infection | 200/3704 | 331/8465 | 3.83e-10 | 4.93e-09 | 2.51e-09 | 200 |
hsa0451019 | Oral cavity | OSCC | Focal adhesion | 128/3704 | 203/8465 | 1.71e-08 | 1.63e-07 | 8.31e-08 | 128 |
hsa052228 | Oral cavity | OSCC | Small cell lung cancer | 66/3704 | 92/8465 | 4.43e-08 | 3.38e-07 | 1.72e-07 | 66 |
hsa049339 | Oral cavity | OSCC | AGE-RAGE signaling pathway in diabetic complications | 69/3704 | 100/8465 | 2.61e-07 | 1.65e-06 | 8.41e-07 | 69 |
hsa041516 | Oral cavity | OSCC | PI3K-Akt signaling pathway | 185/3704 | 354/8465 | 6.26e-04 | 1.86e-03 | 9.49e-04 | 185 |
hsa049267 | Oral cavity | OSCC | Relaxin signaling pathway | 74/3704 | 129/8465 | 1.20e-03 | 3.37e-03 | 1.72e-03 | 74 |
hsa051468 | Oral cavity | OSCC | Amoebiasis | 59/3704 | 102/8465 | 2.78e-03 | 7.17e-03 | 3.65e-03 | 59 |
hsa0516514 | Oral cavity | OSCC | Human papillomavirus infection | 200/3704 | 331/8465 | 3.83e-10 | 4.93e-09 | 2.51e-09 | 200 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
COL4A6 | ITGA1_ITGB1 | COL4A6_ITGA1_ITGB1 | COLLAGEN | CRC | AD |
COL4A6 | ITGA2_ITGB1 | COL4A6_ITGA2_ITGB1 | COLLAGEN | CRC | AD |
COL4A6 | ITGA3_ITGB1 | COL4A6_ITGA3_ITGB1 | COLLAGEN | CRC | AD |
COL4A6 | ITGA11_ITGB1 | COL4A6_ITGA11_ITGB1 | COLLAGEN | CRC | AD |
COL4A6 | CD44 | COL4A6_CD44 | COLLAGEN | CRC | AD |
COL4A6 | SDC1 | COL4A6_SDC1 | COLLAGEN | CRC | AD |
COL4A6 | SDC4 | COL4A6_SDC4 | COLLAGEN | CRC | AD |
COL4A6 | ITGA1_ITGB1 | COL4A6_ITGA1_ITGB1 | COLLAGEN | CRC | ADJ |
COL4A6 | ITGA2_ITGB1 | COL4A6_ITGA2_ITGB1 | COLLAGEN | CRC | ADJ |
COL4A6 | ITGA3_ITGB1 | COL4A6_ITGA3_ITGB1 | COLLAGEN | CRC | ADJ |
COL4A6 | CD44 | COL4A6_CD44 | COLLAGEN | CRC | ADJ |
COL4A6 | SDC1 | COL4A6_SDC1 | COLLAGEN | CRC | ADJ |
COL4A6 | SDC4 | COL4A6_SDC4 | COLLAGEN | CRC | ADJ |
COL4A6 | ITGA1_ITGB1 | COL4A6_ITGA1_ITGB1 | COLLAGEN | Endometrium | ADJ |
COL4A6 | ITGA3_ITGB1 | COL4A6_ITGA3_ITGB1 | COLLAGEN | Endometrium | ADJ |
COL4A6 | ITGA9_ITGB1 | COL4A6_ITGA9_ITGB1 | COLLAGEN | Endometrium | ADJ |
COL4A6 | ITGAV_ITGB8 | COL4A6_ITGAV_ITGB8 | COLLAGEN | Endometrium | ADJ |
COL4A6 | CD44 | COL4A6_CD44 | COLLAGEN | Endometrium | ADJ |
COL4A6 | ITGA1_ITGB1 | COL4A6_ITGA1_ITGB1 | COLLAGEN | Endometrium | AEH |
COL4A6 | ITGA2_ITGB1 | COL4A6_ITGA2_ITGB1 | COLLAGEN | Endometrium | AEH |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
COL4A6 | SNV | Missense_Mutation | c.2306N>G | p.Ile769Ser | p.I769S | protein_coding | deleterious(0.01) | probably_damaging(0.922) | TCGA-KR-A7K7-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | ||
COL4A6 | SNV | Missense_Mutation | novel | c.4787N>A | p.Val1596Glu | p.V1596E | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-05-4390-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |
COL4A6 | SNV | Missense_Mutation | c.367N>T | p.Asp123Tyr | p.D123Y | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-05-4417-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
COL4A6 | SNV | Missense_Mutation | c.2302N>T | p.Asp768Tyr | p.D768Y | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-44-2657-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
COL4A6 | SNV | Missense_Mutation | c.2828N>T | p.Gly943Val | p.G943V | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-44-2668-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD | ||
COL4A6 | SNV | Missense_Mutation | novel | c.707N>C | p.Gly236Ala | p.G236A | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-44-2668-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD | |
COL4A6 | SNV | Missense_Mutation | c.4900N>A | p.Leu1634Met | p.L1634M | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-44-3398-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
COL4A6 | SNV | Missense_Mutation | c.2110N>A | p.Gly704Ser | p.G704S | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-44-3917-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
COL4A6 | SNV | Missense_Mutation | c.1303N>T | p.Gly435Cys | p.G435C | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-44-3918-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD | ||
COL4A6 | SNV | Missense_Mutation | c.1241C>A | p.Pro414Gln | p.P414Q | protein_coding | tolerated(0.06) | benign(0.395) | TCGA-44-7660-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Vaccine | recprame+as15 | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
1288 | COL4A6 | DRUGGABLE GENOME | CHEMBL2095222 | OCRIPLASMIN | ||
1288 | COL4A6 | DRUGGABLE GENOME | CHEMBL2108709 | COLLAGENASE CLOSTRIDIUM HISTOLYTICUM |
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