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Gene: COL6A2 |
Gene summary for COL6A2 |
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Gene information | Species | Human | Gene symbol | COL6A2 | Gene ID | 1292 |
Gene name | collagen type VI alpha 2 chain | |
Gene Alias | BTHLM1 | |
Cytomap | 21q22.3 | |
Gene Type | protein-coding | GO ID | GO:0007155 | UniProtAcc | P12110 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1292 | COL6A2 | AEH-subject1 | Human | Endometrium | AEH | 1.55e-33 | -9.29e-01 | -0.3059 |
1292 | COL6A2 | AEH-subject2 | Human | Endometrium | AEH | 5.80e-34 | -9.37e-01 | -0.2525 |
1292 | COL6A2 | AEH-subject3 | Human | Endometrium | AEH | 2.51e-21 | -7.91e-01 | -0.2576 |
1292 | COL6A2 | AEH-subject4 | Human | Endometrium | AEH | 1.60e-13 | -7.08e-01 | -0.2657 |
1292 | COL6A2 | AEH-subject5 | Human | Endometrium | AEH | 4.92e-38 | -9.62e-01 | -0.2953 |
1292 | COL6A2 | EEC-subject1 | Human | Endometrium | EEC | 2.88e-43 | -9.94e-01 | -0.2682 |
1292 | COL6A2 | EEC-subject2 | Human | Endometrium | EEC | 1.47e-32 | -9.05e-01 | -0.2607 |
1292 | COL6A2 | EEC-subject3 | Human | Endometrium | EEC | 8.42e-35 | -9.21e-01 | -0.2525 |
1292 | COL6A2 | EEC-subject4 | Human | Endometrium | EEC | 1.07e-23 | -8.06e-01 | -0.2571 |
1292 | COL6A2 | EEC-subject5 | Human | Endometrium | EEC | 2.67e-39 | -9.70e-01 | -0.249 |
1292 | COL6A2 | GSM5276934 | Human | Endometrium | EEC | 5.27e-04 | 3.34e-01 | -0.0913 |
1292 | COL6A2 | GSM5276935 | Human | Endometrium | EEC | 7.70e-44 | -9.76e-01 | -0.123 |
1292 | COL6A2 | GSM5276937 | Human | Endometrium | EEC | 6.18e-05 | 1.60e-02 | -0.0897 |
1292 | COL6A2 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 8.81e-41 | -1.03e+00 | -0.1869 |
1292 | COL6A2 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 4.07e-34 | -1.01e+00 | -0.1875 |
1292 | COL6A2 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 4.19e-42 | -1.03e+00 | -0.1883 |
1292 | COL6A2 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 1.74e-48 | -1.01e+00 | -0.1934 |
1292 | COL6A2 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 1.03e-53 | -1.03e+00 | -0.1917 |
1292 | COL6A2 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 6.08e-50 | -1.02e+00 | -0.1916 |
1292 | COL6A2 | LZE2T | Human | Esophagus | ESCC | 2.56e-16 | 7.14e-01 | 0.082 |
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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:000974917 | Oral cavity | OSCC | response to glucose | 105/7305 | 212/18723 | 1.13e-03 | 5.78e-03 | 105 |
GO:000974325 | Oral cavity | NEOLP | response to carbohydrate | 45/2005 | 253/18723 | 4.43e-04 | 4.00e-03 | 45 |
GO:003428425 | Oral cavity | NEOLP | response to monosaccharide | 41/2005 | 225/18723 | 4.69e-04 | 4.20e-03 | 41 |
GO:000974624 | Oral cavity | NEOLP | response to hexose | 39/2005 | 219/18723 | 1.00e-03 | 7.68e-03 | 39 |
GO:000974923 | Oral cavity | NEOLP | response to glucose | 36/2005 | 212/18723 | 3.52e-03 | 2.07e-02 | 36 |
GO:000974318 | Prostate | BPH | response to carbohydrate | 67/3107 | 253/18723 | 4.20e-05 | 4.48e-04 | 67 |
GO:003428418 | Prostate | BPH | response to monosaccharide | 61/3107 | 225/18723 | 4.34e-05 | 4.60e-04 | 61 |
GO:000974617 | Prostate | BPH | response to hexose | 58/3107 | 219/18723 | 1.33e-04 | 1.19e-03 | 58 |
GO:000974915 | Prostate | BPH | response to glucose | 55/3107 | 212/18723 | 3.42e-04 | 2.55e-03 | 55 |
GO:000974327 | Skin | AK | response to carbohydrate | 47/1910 | 253/18723 | 3.61e-05 | 6.02e-04 | 47 |
GO:003428426 | Skin | AK | response to monosaccharide | 43/1910 | 225/18723 | 3.82e-05 | 6.31e-04 | 43 |
GO:000974620 | Skin | AK | response to hexose | 40/1910 | 219/18723 | 1.93e-04 | 2.19e-03 | 40 |
GO:000974919 | Skin | AK | response to glucose | 37/1910 | 212/18723 | 8.05e-04 | 6.69e-03 | 37 |
GO:0034284111 | Skin | SCCIS | response to monosaccharide | 22/919 | 225/18723 | 1.67e-03 | 1.84e-02 | 22 |
GO:0009743112 | Skin | SCCIS | response to carbohydrate | 23/919 | 253/18723 | 3.38e-03 | 3.01e-02 | 23 |
GO:000974328 | Skin | cSCC | response to carbohydrate | 88/4864 | 253/18723 | 1.11e-03 | 7.31e-03 | 88 |
GO:003428427 | Skin | cSCC | response to monosaccharide | 79/4864 | 225/18723 | 1.43e-03 | 9.02e-03 | 79 |
GO:0009746111 | Skin | cSCC | response to hexose | 74/4864 | 219/18723 | 5.94e-03 | 2.93e-02 | 74 |
GO:0009749110 | Skin | cSCC | response to glucose | 71/4864 | 212/18723 | 8.71e-03 | 4.01e-02 | 71 |
GO:0009743113 | Thyroid | PTC | response to carbohydrate | 111/5968 | 253/18723 | 3.77e-05 | 3.48e-04 | 111 |
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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 |
COL6A2 | ITGA1_ITGB1 | COL6A2_ITGA1_ITGB1 | COLLAGEN | Breast | ADJ |
COL6A2 | ITGA2_ITGB1 | COL6A2_ITGA2_ITGB1 | COLLAGEN | Breast | ADJ |
COL6A2 | CD44 | COL6A2_CD44 | COLLAGEN | Breast | ADJ |
COL6A2 | SDC4 | COL6A2_SDC4 | COLLAGEN | Breast | ADJ |
COL6A2 | ITGA1_ITGB1 | COL6A2_ITGA1_ITGB1 | COLLAGEN | Breast | DCIS |
COL6A2 | ITGA2_ITGB1 | COL6A2_ITGA2_ITGB1 | COLLAGEN | Breast | DCIS |
COL6A2 | CD44 | COL6A2_CD44 | COLLAGEN | Breast | DCIS |
COL6A2 | SDC1 | COL6A2_SDC1 | COLLAGEN | Breast | DCIS |
COL6A2 | SDC4 | COL6A2_SDC4 | COLLAGEN | Breast | DCIS |
COL6A2 | ITGA1_ITGB1 | COL6A2_ITGA1_ITGB1 | COLLAGEN | Breast | Healthy |
COL6A2 | ITGA2_ITGB1 | COL6A2_ITGA2_ITGB1 | COLLAGEN | Breast | Healthy |
COL6A2 | ITGAV_ITGB8 | COL6A2_ITGAV_ITGB8 | COLLAGEN | Breast | Healthy |
COL6A2 | CD44 | COL6A2_CD44 | COLLAGEN | Breast | Healthy |
COL6A2 | SDC1 | COL6A2_SDC1 | COLLAGEN | Breast | Healthy |
COL6A2 | SDC4 | COL6A2_SDC4 | COLLAGEN | Breast | Healthy |
COL6A2 | ITGA1_ITGB1 | COL6A2_ITGA1_ITGB1 | COLLAGEN | Breast | IDC |
COL6A2 | CD44 | COL6A2_CD44 | COLLAGEN | Breast | IDC |
COL6A2 | SDC1 | COL6A2_SDC1 | COLLAGEN | Breast | IDC |
COL6A2 | SDC4 | COL6A2_SDC4 | COLLAGEN | Breast | IDC |
COL6A2 | ITGA1_ITGB1 | COL6A2_ITGA1_ITGB1 | COLLAGEN | Breast | Precancer |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 |
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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 |
COL6A2 | SNV | Missense_Mutation | rs111630733 | c.2851N>A | p.Val951Ile | p.V951I | P12110 | protein_coding | tolerated(1) | benign(0.12) | TCGA-AC-A8OQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL6A2 | SNV | Missense_Mutation | c.1798N>A | p.Glu600Lys | p.E600K | P12110 | protein_coding | tolerated(0.15) | probably_damaging(0.991) | TCGA-AR-A0TP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
COL6A2 | SNV | Missense_Mutation | rs541785316 | c.1780G>A | p.Val594Ile | p.V594I | P12110 | protein_coding | tolerated(0.36) | possibly_damaging(0.801) | TCGA-AR-A1AO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
COL6A2 | SNV | Missense_Mutation | rs372431744 | c.3034G>A | p.Asp1012Asn | p.D1012N | P12110 | protein_coding | deleterious(0.01) | probably_damaging(0.983) | TCGA-BH-A18Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL6A2 | SNV | Missense_Mutation | rs142880107 | c.1138C>T | p.Arg380Cys | p.R380C | P12110 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-BH-A42T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL6A2 | SNV | Missense_Mutation | c.2430G>C | p.Gln810His | p.Q810H | P12110 | protein_coding | tolerated(0.28) | benign(0.155) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD | |
COL6A2 | SNV | Missense_Mutation | rs558005986 | c.1976N>A | p.Arg659His | p.R659H | P12110 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-GI-A2C9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | SD | |
COL6A2 | SNV | Missense_Mutation | rs727503883 | c.1162N>A | p.Gly388Arg | p.G388R | P12110 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-LL-A5YL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
COL6A2 | SNV | Missense_Mutation | rs565801105 | c.2350N>T | p.Arg784Cys | p.R784C | P12110 | protein_coding | tolerated(0.1) | possibly_damaging(0.823) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
COL6A2 | SNV | Missense_Mutation | c.2720C>T | p.Thr907Ile | p.T907I | P12110 | protein_coding | tolerated(0.18) | benign(0) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | 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 |
1292 | COL6A2 | DRUGGABLE GENOME | CHEMBL2108709 | COLLAGENASE CLOSTRIDIUM HISTOLYTICUM | ||
1292 | COL6A2 | DRUGGABLE GENOME | CHEMBL2095222 | OCRIPLASMIN |
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