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Gene: COL4A3 |
Gene summary for COL4A3 |
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Gene information | Species | Human | Gene symbol | COL4A3 | Gene ID | 1285 |
Gene name | collagen type IV alpha 3 chain | |
Gene Alias | ATS2 | |
Cytomap | 2q36.3 | |
Gene Type | protein-coding | GO ID | GO:0001525 | UniProtAcc | Q01955 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1285 | COL4A3 | P15T-E | Human | Esophagus | ESCC | 5.20e-29 | 5.74e-01 | 0.1149 |
1285 | COL4A3 | P24T-E | Human | Esophagus | ESCC | 4.12e-11 | 2.64e-01 | 0.1287 |
1285 | COL4A3 | P26T-E | Human | Esophagus | ESCC | 2.55e-31 | 4.94e-01 | 0.1276 |
1285 | COL4A3 | P28T-E | Human | Esophagus | ESCC | 6.56e-15 | 2.64e-01 | 0.1149 |
1285 | COL4A3 | P31T-E | Human | Esophagus | ESCC | 1.30e-15 | 2.83e-01 | 0.1251 |
1285 | COL4A3 | P32T-E | Human | Esophagus | ESCC | 2.13e-27 | 4.55e-01 | 0.1666 |
1285 | COL4A3 | P37T-E | Human | Esophagus | ESCC | 3.20e-21 | 3.65e-01 | 0.1371 |
1285 | COL4A3 | P38T-E | Human | Esophagus | ESCC | 8.07e-09 | 2.63e-01 | 0.127 |
1285 | COL4A3 | P42T-E | Human | Esophagus | ESCC | 1.02e-24 | 4.84e-01 | 0.1175 |
1285 | COL4A3 | P49T-E | Human | Esophagus | ESCC | 1.97e-16 | 8.99e-01 | 0.1768 |
1285 | COL4A3 | P74T-E | Human | Esophagus | ESCC | 7.09e-38 | 7.35e-01 | 0.1479 |
1285 | COL4A3 | P83T-E | Human | Esophagus | ESCC | 4.35e-18 | 4.58e-01 | 0.1738 |
1285 | COL4A3 | P89T-E | Human | Esophagus | ESCC | 6.02e-08 | 4.15e-01 | 0.1752 |
1285 | COL4A3 | P91T-E | Human | Esophagus | ESCC | 1.72e-16 | 1.05e+00 | 0.1828 |
1285 | COL4A3 | P107T-E | Human | Esophagus | ESCC | 4.60e-32 | 6.88e-01 | 0.171 |
1285 | COL4A3 | P126T-E | Human | Esophagus | ESCC | 2.42e-10 | 6.10e-01 | 0.1125 |
1285 | COL4A3 | TD9 | Human | Lung | IAC | 2.95e-02 | 4.40e-01 | 0.088 |
1285 | COL4A3 | RNA-P10T2-P10T2-2 | Human | Lung | AAH | 7.20e-04 | 7.53e-01 | -0.1406 |
1285 | COL4A3 | RNA-P10T2-P10T2-3 | Human | Lung | AAH | 4.22e-04 | 7.70e-01 | -0.1408 |
1285 | COL4A3 | RNA-P10T2-P10T2-4 | Human | Lung | AAH | 3.20e-03 | 6.82e-01 | -0.138 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0045862111 | Esophagus | ESCC | positive regulation of proteolysis | 256/8552 | 372/18723 | 7.88e-20 | 9.43e-18 | 256 |
GO:2000116111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity | 158/8552 | 235/18723 | 1.67e-11 | 5.90e-10 | 158 |
GO:0043281111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 143/8552 | 209/18723 | 2.12e-11 | 7.31e-10 | 143 |
GO:0010952111 | Esophagus | ESCC | positive regulation of peptidase activity | 133/8552 | 197/18723 | 4.31e-10 | 1.14e-08 | 133 |
GO:0052547111 | Esophagus | ESCC | regulation of peptidase activity | 275/8552 | 461/18723 | 7.54e-10 | 1.88e-08 | 275 |
GO:0052548111 | Esophagus | ESCC | regulation of endopeptidase activity | 253/8552 | 432/18723 | 3.68e-08 | 6.78e-07 | 253 |
GO:0010950111 | Esophagus | ESCC | positive regulation of endopeptidase activity | 116/8552 | 179/18723 | 1.77e-07 | 2.79e-06 | 116 |
GO:0043280110 | Esophagus | ESCC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 84/8552 | 129/18723 | 6.38e-06 | 6.55e-05 | 84 |
GO:2001056110 | Esophagus | ESCC | positive regulation of cysteine-type endopeptidase activity | 94/8552 | 148/18723 | 8.87e-06 | 8.59e-05 | 94 |
GO:000691915 | Esophagus | ESCC | activation of cysteine-type endopeptidase activity involved in apoptotic process | 54/8552 | 78/18723 | 2.17e-05 | 1.87e-04 | 54 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
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:0045861111 | Esophagus | ESCC | negative regulation of proteolysis | 195/8552 | 351/18723 | 1.13e-04 | 7.85e-04 | 195 |
GO:005067318 | Esophagus | ESCC | epithelial cell proliferation | 238/8552 | 437/18723 | 1.19e-04 | 8.20e-04 | 238 |
GO:0051346110 | Esophagus | ESCC | negative regulation of hydrolase activity | 208/8552 | 379/18723 | 1.76e-04 | 1.14e-03 | 208 |
GO:005067817 | Esophagus | ESCC | regulation of epithelial cell proliferation | 206/8552 | 381/18723 | 5.51e-04 | 3.02e-03 | 206 |
GO:001046620 | Esophagus | ESCC | negative regulation of peptidase activity | 140/8552 | 262/18723 | 6.73e-03 | 2.46e-02 | 140 |
GO:001095119 | Esophagus | ESCC | negative regulation of endopeptidase activity | 135/8552 | 252/18723 | 6.86e-03 | 2.51e-02 | 135 |
GO:00016559 | Esophagus | ESCC | urogenital system development | 177/8552 | 338/18723 | 7.51e-03 | 2.69e-02 | 177 |
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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 |
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 |
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 |
hsa045108 | Lung | IAC | Focal adhesion | 59/1053 | 203/8465 | 1.31e-10 | 1.06e-08 | 7.06e-09 | 59 |
hsa051656 | Lung | IAC | Human papillomavirus infection | 71/1053 | 331/8465 | 1.88e-06 | 7.63e-05 | 5.06e-05 | 71 |
hsa049264 | Lung | IAC | Relaxin signaling pathway | 29/1053 | 129/8465 | 9.70e-04 | 7.32e-03 | 4.86e-03 | 29 |
hsa051464 | Lung | IAC | Amoebiasis | 23/1053 | 102/8465 | 2.99e-03 | 1.53e-02 | 1.02e-02 | 23 |
hsa04512 | Lung | IAC | ECM-receptor interaction | 20/1053 | 89/8465 | 5.65e-03 | 2.45e-02 | 1.63e-02 | 20 |
hsa041514 | Lung | IAC | PI3K-Akt signaling pathway | 60/1053 | 354/8465 | 7.03e-03 | 2.86e-02 | 1.90e-02 | 60 |
hsa0451012 | Lung | IAC | Focal adhesion | 59/1053 | 203/8465 | 1.31e-10 | 1.06e-08 | 7.06e-09 | 59 |
hsa0516511 | Lung | IAC | Human papillomavirus infection | 71/1053 | 331/8465 | 1.88e-06 | 7.63e-05 | 5.06e-05 | 71 |
hsa0492612 | Lung | IAC | Relaxin signaling pathway | 29/1053 | 129/8465 | 9.70e-04 | 7.32e-03 | 4.86e-03 | 29 |
hsa0514611 | Lung | IAC | Amoebiasis | 23/1053 | 102/8465 | 2.99e-03 | 1.53e-02 | 1.02e-02 | 23 |
hsa045121 | Lung | IAC | ECM-receptor interaction | 20/1053 | 89/8465 | 5.65e-03 | 2.45e-02 | 1.63e-02 | 20 |
hsa0415111 | Lung | IAC | PI3K-Akt signaling pathway | 60/1053 | 354/8465 | 7.03e-03 | 2.86e-02 | 1.90e-02 | 60 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
COL4A3 | ITGA1_ITGB1 | COL4A3_ITGA1_ITGB1 | COLLAGEN | HNSCC | Precancer |
COL4A3 | ITGA2_ITGB1 | COL4A3_ITGA2_ITGB1 | COLLAGEN | HNSCC | Precancer |
COL4A3 | ITGA3_ITGB1 | COL4A3_ITGA3_ITGB1 | COLLAGEN | HNSCC | Precancer |
COL4A3 | ITGA9_ITGB1 | COL4A3_ITGA9_ITGB1 | COLLAGEN | HNSCC | Precancer |
COL4A3 | ITGAV_ITGB8 | COL4A3_ITGAV_ITGB8 | COLLAGEN | HNSCC | Precancer |
COL4A3 | SDC1 | COL4A3_SDC1 | COLLAGEN | HNSCC | Precancer |
COL4A3 | SDC4 | COL4A3_SDC4 | COLLAGEN | HNSCC | Precancer |
COL4A3 | ITGA1_ITGB1 | COL4A3_ITGA1_ITGB1 | COLLAGEN | Liver | Precancer |
COL4A3 | ITGA2_ITGB1 | COL4A3_ITGA2_ITGB1 | COLLAGEN | Liver | Precancer |
COL4A3 | ITGA9_ITGB1 | COL4A3_ITGA9_ITGB1 | COLLAGEN | Liver | Precancer |
COL4A3 | ITGA10_ITGB1 | COL4A3_ITGA10_ITGB1 | COLLAGEN | Liver | Precancer |
COL4A3 | ITGAV_ITGB8 | COL4A3_ITGAV_ITGB8 | COLLAGEN | Liver | Precancer |
COL4A3 | CD44 | COL4A3_CD44 | COLLAGEN | Liver | Precancer |
COL4A3 | SDC1 | COL4A3_SDC1 | COLLAGEN | Liver | Precancer |
COL4A3 | SDC4 | COL4A3_SDC4 | COLLAGEN | Liver | Precancer |
COL4A3 | ITGA1_ITGB1 | COL4A3_ITGA1_ITGB1 | COLLAGEN | Lung | AAH |
COL4A3 | ITGA2_ITGB1 | COL4A3_ITGA2_ITGB1 | COLLAGEN | Lung | AAH |
COL4A3 | ITGA3_ITGB1 | COL4A3_ITGA3_ITGB1 | COLLAGEN | Lung | AAH |
COL4A3 | ITGA9_ITGB1 | COL4A3_ITGA9_ITGB1 | COLLAGEN | Lung | AAH |
COL4A3 | CD44 | COL4A3_CD44 | COLLAGEN | Lung | AAH |
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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 |
COL4A3 | SNV | Missense_Mutation | rs773914532 | c.1330N>T | p.Arg444Cys | p.R444C | Q01955 | protein_coding | tolerated(0.11) | probably_damaging(0.987) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
COL4A3 | SNV | Missense_Mutation | c.4571N>T | p.Ser1524Leu | p.S1524L | Q01955 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
COL4A3 | SNV | Missense_Mutation | novel | c.1580T>C | p.Phe527Ser | p.F527S | Q01955 | protein_coding | tolerated(0.48) | probably_damaging(0.999) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
COL4A3 | SNV | Missense_Mutation | c.4660C>T | p.Pro1554Ser | p.P1554S | Q01955 | protein_coding | deleterious(0.04) | benign(0.346) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
COL4A3 | SNV | Missense_Mutation | c.283A>G | p.Ile95Val | p.I95V | Q01955 | protein_coding | tolerated(1) | benign(0.219) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
COL4A3 | SNV | Missense_Mutation | c.2737G>T | p.Gly913Trp | p.G913W | Q01955 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
COL4A3 | SNV | Missense_Mutation | rs761179248 | c.3755C>T | p.Ala1252Val | p.A1252V | Q01955 | protein_coding | tolerated(0.39) | benign(0) | TCGA-AM-5821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL4A3 | SNV | Missense_Mutation | c.1021N>T | p.Arg341Cys | p.R341C | Q01955 | protein_coding | tolerated(0.14) | probably_damaging(0.959) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
COL4A3 | SNV | Missense_Mutation | novel | c.2021N>A | p.Gly674Asp | p.G674D | Q01955 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
COL4A3 | SNV | Missense_Mutation | c.933G>C | p.Glu311Asp | p.E311D | Q01955 | protein_coding | tolerated(0.24) | possibly_damaging(0.82) | TCGA-D5-6533-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | oxaliplatin | CR |
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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 |
1285 | COL4A3 | KINASE, DRUGGABLE GENOME | CHEMBL2108709 | COLLAGENASE CLOSTRIDIUM HISTOLYTICUM | ||
1285 | COL4A3 | KINASE, DRUGGABLE GENOME | CHEMBL2095222 | OCRIPLASMIN |
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