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Gene: COL6A1 |
Gene summary for COL6A1 |
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Gene information | Species | Human | Gene symbol | COL6A1 | Gene ID | 1291 |
Gene name | collagen type VI alpha 1 chain | |
Gene Alias | BTHLM1 | |
Cytomap | 21q22.3 | |
Gene Type | protein-coding | GO ID | GO:0001101 | UniProtAcc | P12109 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1291 | COL6A1 | AEH-subject1 | Human | Endometrium | AEH | 1.31e-23 | -7.49e-01 | -0.3059 |
1291 | COL6A1 | AEH-subject2 | Human | Endometrium | AEH | 1.41e-15 | -6.54e-01 | -0.2525 |
1291 | COL6A1 | AEH-subject3 | Human | Endometrium | AEH | 1.08e-06 | -5.37e-01 | -0.2576 |
1291 | COL6A1 | AEH-subject4 | Human | Endometrium | AEH | 1.09e-09 | -6.12e-01 | -0.2657 |
1291 | COL6A1 | AEH-subject5 | Human | Endometrium | AEH | 3.27e-26 | -8.20e-01 | -0.2953 |
1291 | COL6A1 | EEC-subject1 | Human | Endometrium | EEC | 1.57e-28 | -8.53e-01 | -0.2682 |
1291 | COL6A1 | EEC-subject2 | Human | Endometrium | EEC | 1.59e-16 | -6.40e-01 | -0.2607 |
1291 | COL6A1 | EEC-subject3 | Human | Endometrium | EEC | 1.12e-42 | -8.26e-01 | -0.2525 |
1291 | COL6A1 | EEC-subject4 | Human | Endometrium | EEC | 1.87e-20 | -7.20e-01 | -0.2571 |
1291 | COL6A1 | EEC-subject5 | Human | Endometrium | EEC | 1.75e-13 | -6.34e-01 | -0.249 |
1291 | COL6A1 | GSM5276935 | Human | Endometrium | EEC | 1.45e-33 | -8.21e-01 | -0.123 |
1291 | COL6A1 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 3.84e-34 | -8.21e-01 | -0.1869 |
1291 | COL6A1 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 3.62e-24 | -7.51e-01 | -0.1875 |
1291 | COL6A1 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 3.39e-26 | -7.59e-01 | -0.1883 |
1291 | COL6A1 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 2.47e-24 | -7.67e-01 | -0.1934 |
1291 | COL6A1 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 1.88e-25 | -7.21e-01 | -0.1917 |
1291 | COL6A1 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 3.57e-29 | -6.71e-01 | -0.1916 |
1291 | COL6A1 | GSM6177623_NYU_UCEC3_Vis | Human | Endometrium | EEC | 1.15e-05 | 2.87e-01 | -0.1269 |
1291 | COL6A1 | LZE2T | Human | Esophagus | ESCC | 1.48e-09 | 5.23e-01 | 0.082 |
1291 | COL6A1 | LZE8T | Human | Esophagus | ESCC | 1.22e-07 | -2.47e-02 | 0.067 |
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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:000170414 | Thyroid | ATC | formation of primary germ layer | 60/6293 | 121/18723 | 1.96e-04 | 1.31e-03 | 60 |
GO:007122922 | Thyroid | ATC | cellular response to acid chemical | 42/6293 | 80/18723 | 3.75e-04 | 2.29e-03 | 42 |
GO:007123022 | Thyroid | ATC | cellular response to amino acid stimulus | 37/6293 | 71/18723 | 9.80e-04 | 5.21e-03 | 37 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0451015 | Endometrium | AEH | Focal adhesion | 58/1197 | 203/8465 | 4.99e-08 | 7.37e-07 | 5.39e-07 | 58 |
hsa0451016 | Endometrium | AEH | Focal adhesion | 58/1197 | 203/8465 | 4.99e-08 | 7.37e-07 | 5.39e-07 | 58 |
hsa0451024 | Endometrium | EEC | Focal adhesion | 58/1237 | 203/8465 | 1.61e-07 | 2.30e-06 | 1.71e-06 | 58 |
hsa0451034 | Endometrium | EEC | Focal adhesion | 58/1237 | 203/8465 | 1.61e-07 | 2.30e-06 | 1.71e-06 | 58 |
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 |
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 |
hsa0415114 | Esophagus | ESCC | PI3K-Akt signaling pathway | 197/4205 | 354/8465 | 1.24e-02 | 2.83e-02 | 1.45e-02 | 197 |
hsa0451021 | Liver | Cirrhotic | Focal adhesion | 93/2530 | 203/8465 | 9.27e-07 | 1.10e-05 | 6.80e-06 | 93 |
hsa05165 | Liver | Cirrhotic | Human papillomavirus infection | 124/2530 | 331/8465 | 1.55e-03 | 7.83e-03 | 4.83e-03 | 124 |
hsa0451031 | Liver | Cirrhotic | Focal adhesion | 93/2530 | 203/8465 | 9.27e-07 | 1.10e-05 | 6.80e-06 | 93 |
hsa051651 | Liver | Cirrhotic | Human papillomavirus infection | 124/2530 | 331/8465 | 1.55e-03 | 7.83e-03 | 4.83e-03 | 124 |
hsa0451041 | Liver | HCC | Focal adhesion | 125/4020 | 203/8465 | 3.12e-05 | 1.88e-04 | 1.04e-04 | 125 |
hsa051652 | Liver | HCC | Human papillomavirus infection | 188/4020 | 331/8465 | 3.34e-04 | 1.49e-03 | 8.29e-04 | 188 |
hsa0451051 | Liver | HCC | Focal adhesion | 125/4020 | 203/8465 | 3.12e-05 | 1.88e-04 | 1.04e-04 | 125 |
hsa051653 | Liver | HCC | Human papillomavirus infection | 188/4020 | 331/8465 | 3.34e-04 | 1.49e-03 | 8.29e-04 | 188 |
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 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
COL6A1 | ITGA1_ITGB1 | COL6A1_ITGA1_ITGB1 | COLLAGEN | Breast | ADJ |
COL6A1 | ITGA2_ITGB1 | COL6A1_ITGA2_ITGB1 | COLLAGEN | Breast | ADJ |
COL6A1 | CD44 | COL6A1_CD44 | COLLAGEN | Breast | ADJ |
COL6A1 | SDC4 | COL6A1_SDC4 | COLLAGEN | Breast | ADJ |
COL6A1 | ITGA1_ITGB1 | COL6A1_ITGA1_ITGB1 | COLLAGEN | Breast | DCIS |
COL6A1 | ITGA2_ITGB1 | COL6A1_ITGA2_ITGB1 | COLLAGEN | Breast | DCIS |
COL6A1 | CD44 | COL6A1_CD44 | COLLAGEN | Breast | DCIS |
COL6A1 | SDC1 | COL6A1_SDC1 | COLLAGEN | Breast | DCIS |
COL6A1 | SDC4 | COL6A1_SDC4 | COLLAGEN | Breast | DCIS |
COL6A1 | ITGA1_ITGB1 | COL6A1_ITGA1_ITGB1 | COLLAGEN | Breast | Healthy |
COL6A1 | ITGA2_ITGB1 | COL6A1_ITGA2_ITGB1 | COLLAGEN | Breast | Healthy |
COL6A1 | ITGAV_ITGB8 | COL6A1_ITGAV_ITGB8 | COLLAGEN | Breast | Healthy |
COL6A1 | CD44 | COL6A1_CD44 | COLLAGEN | Breast | Healthy |
COL6A1 | SDC1 | COL6A1_SDC1 | COLLAGEN | Breast | Healthy |
COL6A1 | SDC4 | COL6A1_SDC4 | COLLAGEN | Breast | Healthy |
COL6A1 | ITGA1_ITGB1 | COL6A1_ITGA1_ITGB1 | COLLAGEN | Breast | IDC |
COL6A1 | CD44 | COL6A1_CD44 | COLLAGEN | Breast | IDC |
COL6A1 | SDC1 | COL6A1_SDC1 | COLLAGEN | Breast | IDC |
COL6A1 | SDC4 | COL6A1_SDC4 | COLLAGEN | Breast | IDC |
COL6A1 | ITGA1_ITGB1 | COL6A1_ITGA1_ITGB1 | COLLAGEN | Breast | Precancer |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 |
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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 |
COL6A1 | SNV | Missense_Mutation | novel | c.142N>T | p.Val48Leu | p.V48L | P12109 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A7-A26H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD |
COL6A1 | SNV | Missense_Mutation | rs780891158 | c.2782C>T | p.Arg928Cys | p.R928C | P12109 | protein_coding | deleterious(0) | probably_damaging(0.949) | TCGA-A7-A426-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
COL6A1 | SNV | Missense_Mutation | c.1933C>A | p.Leu645Met | p.L645M | P12109 | protein_coding | deleterious(0.01) | probably_damaging(0.993) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
COL6A1 | SNV | Missense_Mutation | rs752259110 | c.784N>T | p.Arg262Trp | p.R262W | P12109 | protein_coding | deleterious(0.02) | probably_damaging(0.969) | TCGA-E9-A1R2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | CR |
COL6A1 | SNV | Missense_Mutation | rs368239109 | c.1315N>T | p.Arg439Trp | p.R439W | P12109 | protein_coding | deleterious(0.01) | probably_damaging(0.986) | TCGA-E9-A1RE-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
COL6A1 | deletion | Frame_Shift_Del | novel | c.1242delN | p.Pro415GlnfsTer90 | p.P415Qfs*90 | P12109 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
COL6A1 | deletion | Frame_Shift_Del | novel | c.1821delN | p.Cys607TrpfsTer39 | p.C607Wfs*39 | P12109 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
COL6A1 | deletion | Frame_Shift_Del | novel | c.2339delN | p.Gln781ArgfsTer22 | p.Q781Rfs*22 | P12109 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
COL6A1 | SNV | Missense_Mutation | rs201456885 | c.2998N>A | p.Glu1000Lys | p.E1000K | P12109 | protein_coding | deleterious(0.02) | benign(0.251) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
COL6A1 | SNV | Missense_Mutation | c.1870N>C | p.Glu624Gln | p.E624Q | P12109 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | 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 |
1291 | COL6A1 | DRUGGABLE GENOME | CHEMBL2108709 | COLLAGENASE CLOSTRIDIUM HISTOLYTICUM | ||
1291 | COL6A1 | DRUGGABLE GENOME | CHEMBL2095222 | OCRIPLASMIN |
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