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Gene: COL5A3 |
Gene summary for COL5A3 |
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Gene information | Species | Human | Gene symbol | COL5A3 | Gene ID | 50509 |
Gene name | collagen type V alpha 3 chain | |
Gene Alias | COL5A3 | |
Cytomap | 19p13.2 | |
Gene Type | protein-coding | GO ID | GO:0007155 | UniProtAcc | P25940 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
50509 | COL5A3 | P9T-E | Human | Esophagus | ESCC | 2.30e-02 | 1.72e-01 | 0.1131 |
50509 | COL5A3 | P19T-E | Human | Esophagus | ESCC | 7.48e-03 | 4.59e-01 | 0.1662 |
50509 | COL5A3 | P24T-E | Human | Esophagus | ESCC | 2.23e-03 | 2.57e-01 | 0.1287 |
50509 | COL5A3 | P32T-E | Human | Esophagus | ESCC | 1.40e-10 | 4.70e-01 | 0.1666 |
50509 | COL5A3 | P36T-E | Human | Esophagus | ESCC | 2.82e-02 | 1.14e-01 | 0.1187 |
50509 | COL5A3 | P37T-E | Human | Esophagus | ESCC | 1.24e-21 | 5.57e-01 | 0.1371 |
50509 | COL5A3 | P44T-E | Human | Esophagus | ESCC | 2.29e-03 | 2.03e-01 | 0.1096 |
50509 | COL5A3 | P83T-E | Human | Esophagus | ESCC | 1.82e-04 | 2.01e-01 | 0.1738 |
50509 | COL5A3 | P91T-E | Human | Esophagus | ESCC | 1.76e-08 | 7.74e-01 | 0.1828 |
50509 | COL5A3 | P107T-E | Human | Esophagus | ESCC | 8.09e-05 | 1.78e-01 | 0.171 |
50509 | COL5A3 | ATC12 | Human | Thyroid | ATC | 2.23e-73 | 1.79e+00 | 0.34 |
50509 | COL5A3 | ATC13 | Human | Thyroid | ATC | 1.83e-47 | 1.10e+00 | 0.34 |
50509 | COL5A3 | ATC2 | Human | Thyroid | ATC | 1.60e-07 | 9.53e-01 | 0.34 |
50509 | COL5A3 | ATC3 | Human | Thyroid | ATC | 6.48e-06 | 4.71e-01 | 0.338 |
50509 | COL5A3 | ATC4 | Human | Thyroid | ATC | 2.07e-86 | 2.09e+00 | 0.34 |
50509 | COL5A3 | ATC5 | Human | Thyroid | ATC | 1.88e-57 | 1.21e+00 | 0.34 |
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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:003158919 | Esophagus | ESCC | cell-substrate adhesion | 221/8552 | 363/18723 | 3.06e-09 | 6.62e-08 | 221 |
GO:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:000716018 | Esophagus | ESCC | cell-matrix adhesion | 141/8552 | 233/18723 | 3.33e-06 | 3.71e-05 | 141 |
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:00301993 | Esophagus | ESCC | collagen fibril organization | 40/8552 | 61/18723 | 1.35e-03 | 6.44e-03 | 40 |
GO:003158928 | Thyroid | ATC | cell-substrate adhesion | 195/6293 | 363/18723 | 1.58e-15 | 1.17e-13 | 195 |
GO:0007160111 | Thyroid | ATC | cell-matrix adhesion | 128/6293 | 233/18723 | 1.49e-11 | 5.41e-10 | 128 |
GO:003019812 | Thyroid | ATC | extracellular matrix organization | 152/6293 | 301/18723 | 8.63e-10 | 2.24e-08 | 152 |
GO:004306212 | Thyroid | ATC | extracellular structure organization | 152/6293 | 302/18723 | 1.17e-09 | 2.94e-08 | 152 |
GO:004522912 | Thyroid | ATC | external encapsulating structure organization | 152/6293 | 304/18723 | 2.11e-09 | 5.08e-08 | 152 |
GO:003019911 | Thyroid | ATC | collagen fibril organization | 43/6293 | 61/18723 | 4.24e-09 | 9.57e-08 | 43 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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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 |
COL5A3 | SNV | Missense_Mutation | rs772245345 | c.1586N>C | p.Met529Thr | p.M529T | P25940 | protein_coding | deleterious(0.04) | benign(0.005) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
COL5A3 | SNV | Missense_Mutation | novel | c.2786G>A | p.Gly929Glu | p.G929E | P25940 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
COL5A3 | SNV | Missense_Mutation | rs763576120 | c.3913N>A | p.Ala1305Thr | p.A1305T | P25940 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-QS-A5YQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
COL5A3 | SNV | Missense_Mutation | rs749719442 | c.4079G>A | p.Arg1360Gln | p.R1360Q | P25940 | protein_coding | tolerated(0.1) | benign(0.003) | TCGA-QS-A5YR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
COL5A3 | SNV | Missense_Mutation | novel | c.1216T>C | p.Ser406Pro | p.S406P | P25940 | protein_coding | tolerated(1) | benign(0.001) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL5A3 | insertion | Frame_Shift_Ins | novel | c.4201dupG | p.Glu1401GlyfsTer19 | p.E1401Gfs*19 | P25940 | protein_coding | TCGA-A5-A0VP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
COL5A3 | deletion | Frame_Shift_Del | novel | c.4052delN | p.Pro1351LeufsTer42 | p.P1351Lfs*42 | P25940 | protein_coding | TCGA-B5-A11G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
COL5A3 | deletion | Frame_Shift_Del | rs748476975 | c.2000delN | p.Pro667LeufsTer48 | p.P667Lfs*48 | P25940 | protein_coding | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD | ||
COL5A3 | deletion | Frame_Shift_Del | novel | c.3786delN | p.Leu1263CysfsTer5 | p.L1263Cfs*5 | P25940 | protein_coding | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD | ||
COL5A3 | insertion | Frame_Shift_Ins | novel | c.2354_2355insA | p.Lys786GlnfsTer17 | p.K786Qfs*17 | P25940 | protein_coding | TCGA-D1-A17T-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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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 |
50509 | COL5A3 | DRUGGABLE GENOME | CHEMBL2095222 | OCRIPLASMIN | ||
50509 | COL5A3 | DRUGGABLE GENOME | CHEMBL2108709 | COLLAGENASE CLOSTRIDIUM HISTOLYTICUM |
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