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Gene: COL12A1 |
Gene summary for COL12A1 |
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Gene information | Species | Human | Gene symbol | COL12A1 | Gene ID | 1303 |
Gene name | collagen type XII alpha 1 chain | |
Gene Alias | BA209D8.1 | |
Cytomap | 6q13-q14.1 | |
Gene Type | protein-coding | GO ID | GO:0001704 | UniProtAcc | Q99715 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1303 | COL12A1 | LZE6T | Human | Esophagus | ESCC | 1.26e-03 | 3.38e-01 | 0.0845 |
1303 | COL12A1 | P4T-E | Human | Esophagus | ESCC | 2.51e-06 | 8.74e-01 | 0.1323 |
1303 | COL12A1 | P9T-E | Human | Esophagus | ESCC | 1.41e-11 | 1.01e+00 | 0.1131 |
1303 | COL12A1 | P10T-E | Human | Esophagus | ESCC | 9.42e-66 | 1.34e+00 | 0.116 |
1303 | COL12A1 | P11T-E | Human | Esophagus | ESCC | 1.14e-09 | 9.53e-01 | 0.1426 |
1303 | COL12A1 | P12T-E | Human | Esophagus | ESCC | 5.32e-18 | 3.79e-01 | 0.1122 |
1303 | COL12A1 | P15T-E | Human | Esophagus | ESCC | 9.03e-07 | 6.21e-01 | 0.1149 |
1303 | COL12A1 | P16T-E | Human | Esophagus | ESCC | 1.58e-02 | 6.41e-03 | 0.1153 |
1303 | COL12A1 | P17T-E | Human | Esophagus | ESCC | 2.53e-03 | 5.37e-01 | 0.1278 |
1303 | COL12A1 | P20T-E | Human | Esophagus | ESCC | 2.59e-02 | 1.71e-01 | 0.1124 |
1303 | COL12A1 | P21T-E | Human | Esophagus | ESCC | 1.31e-25 | 7.24e-01 | 0.1617 |
1303 | COL12A1 | P22T-E | Human | Esophagus | ESCC | 1.44e-03 | 4.48e-01 | 0.1236 |
1303 | COL12A1 | P23T-E | Human | Esophagus | ESCC | 2.76e-02 | 5.58e-01 | 0.108 |
1303 | COL12A1 | P24T-E | Human | Esophagus | ESCC | 4.58e-05 | 4.57e-01 | 0.1287 |
1303 | COL12A1 | P26T-E | Human | Esophagus | ESCC | 1.34e-09 | 3.30e-01 | 0.1276 |
1303 | COL12A1 | P30T-E | Human | Esophagus | ESCC | 8.51e-05 | 6.64e-01 | 0.137 |
1303 | COL12A1 | P31T-E | Human | Esophagus | ESCC | 2.91e-32 | 9.34e-01 | 0.1251 |
1303 | COL12A1 | P32T-E | Human | Esophagus | ESCC | 2.19e-57 | 1.54e+00 | 0.1666 |
1303 | COL12A1 | P37T-E | Human | Esophagus | ESCC | 8.47e-41 | 1.39e+00 | 0.1371 |
1303 | COL12A1 | P42T-E | Human | Esophagus | ESCC | 2.15e-19 | 1.28e+00 | 0.1175 |
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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:00073698 | Esophagus | ESCC | gastrulation | 115/8552 | 185/18723 | 4.35e-06 | 4.64e-05 | 115 |
GO:00074926 | Esophagus | ESCC | endoderm development | 54/8552 | 77/18723 | 1.20e-05 | 1.12e-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:00017064 | Esophagus | ESCC | endoderm formation | 38/8552 | 54/18723 | 2.08e-04 | 1.31e-03 | 38 |
GO:00017044 | Esophagus | ESCC | formation of primary germ layer | 75/8552 | 121/18723 | 2.17e-04 | 1.36e-03 | 75 |
GO:00359873 | Esophagus | ESCC | endodermal cell differentiation | 32/8552 | 45/18723 | 4.87e-04 | 2.70e-03 | 32 |
GO:00301993 | Esophagus | ESCC | collagen fibril organization | 40/8552 | 61/18723 | 1.35e-03 | 6.44e-03 | 40 |
GO:00074925 | Oral cavity | OSCC | endoderm development | 47/7305 | 77/18723 | 7.40e-05 | 5.81e-04 | 47 |
GO:00017063 | Oral cavity | OSCC | endoderm formation | 34/7305 | 54/18723 | 3.12e-04 | 1.94e-03 | 34 |
GO:00073697 | Oral cavity | OSCC | gastrulation | 95/7305 | 185/18723 | 4.17e-04 | 2.54e-03 | 95 |
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:00017043 | Oral cavity | OSCC | formation of primary germ layer | 65/7305 | 121/18723 | 7.08e-04 | 3.90e-03 | 65 |
GO:00359872 | Oral cavity | OSCC | endodermal cell differentiation | 28/7305 | 45/18723 | 1.36e-03 | 6.62e-03 | 28 |
GO:00301982 | Oral cavity | NEOLP | extracellular matrix organization | 64/2005 | 301/18723 | 5.66e-08 | 2.24e-06 | 64 |
GO:00430622 | Oral cavity | NEOLP | extracellular structure organization | 64/2005 | 302/18723 | 6.44e-08 | 2.50e-06 | 64 |
GO:00452292 | Oral cavity | NEOLP | external encapsulating structure organization | 64/2005 | 304/18723 | 8.33e-08 | 3.17e-06 | 64 |
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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 |
COL12A1 | SNV | Missense_Mutation | novel | c.1762G>T | p.Ala588Ser | p.A588S | Q99715 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-D7-A6EY-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
COL12A1 | SNV | Missense_Mutation | novel | c.3199N>T | p.Pro1067Ser | p.P1067S | Q99715 | protein_coding | tolerated(0.07) | probably_damaging(1) | TCGA-D7-A6EZ-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
COL12A1 | SNV | Missense_Mutation | rs779848906 | c.2798N>A | p.Arg933His | p.R933H | Q99715 | protein_coding | deleterious(0.04) | possibly_damaging(0.837) | TCGA-EQ-8122-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
COL12A1 | SNV | Missense_Mutation | c.4763N>A | p.Pro1588His | p.P1588H | Q99715 | protein_coding | tolerated(0.09) | possibly_damaging(0.907) | TCGA-F1-6177-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
COL12A1 | SNV | Missense_Mutation | c.3796N>A | p.Val1266Met | p.V1266M | Q99715 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-F1-6177-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
COL12A1 | SNV | Missense_Mutation | c.5374G>T | p.Gly1792Trp | p.G1792W | Q99715 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-F1-6874-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
COL12A1 | SNV | Missense_Mutation | rs183898615 | c.7438G>A | p.Val2480Met | p.V2480M | Q99715 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-F1-A448-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | capecitabine | CR |
COL12A1 | SNV | Missense_Mutation | c.9002N>A | p.Gly3001Asp | p.G3001D | Q99715 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-FP-A4BE-01 | Stomach | stomach adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
COL12A1 | SNV | Missense_Mutation | rs768824483 | c.5957N>T | p.Thr1986Met | p.T1986M | Q99715 | protein_coding | tolerated(0.05) | benign(0.031) | TCGA-HF-7132-01 | Stomach | stomach adenocarcinoma | Male | Unknown | I/II | Chemotherapy | fluorouracil | SD |
COL12A1 | SNV | Missense_Mutation | rs751986784 | c.5771N>A | p.Arg1924His | p.R1924H | Q99715 | protein_coding | deleterious(0.04) | probably_damaging(0.93) | TCGA-HF-7132-01 | Stomach | stomach adenocarcinoma | Male | Unknown | I/II | Chemotherapy | fluorouracil | 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 |
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