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Gene: COL1A1 |
Gene summary for COL1A1 |
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Gene information | Species | Human | Gene symbol | COL1A1 | Gene ID | 1277 |
Gene name | collagen type I alpha 1 chain | |
Gene Alias | CAFYD | |
Cytomap | 17q21.33 | |
Gene Type | protein-coding | GO ID | GO:0000302 | UniProtAcc | P02452 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1277 | COL1A1 | GSM4909291 | Human | Breast | IDC | 4.13e-26 | 6.68e-01 | 0.1753 |
1277 | COL1A1 | GSM4909296 | Human | Breast | IDC | 1.34e-03 | 2.71e-01 | 0.1524 |
1277 | COL1A1 | GSM4909302 | Human | Breast | IDC | 4.86e-86 | 1.33e+00 | 0.1545 |
1277 | COL1A1 | GSM4909308 | Human | Breast | IDC | 3.36e-03 | 2.06e-01 | 0.158 |
1277 | COL1A1 | P2 | Human | Breast | IDC | 1.09e-02 | 3.05e-01 | 0.21 |
1277 | COL1A1 | N_HPV_2 | Human | Cervix | N_HPV | 5.70e-05 | 3.41e-01 | -0.0131 |
1277 | COL1A1 | CCII_1 | Human | Cervix | CC | 1.34e-03 | 2.30e-01 | 0.3249 |
1277 | COL1A1 | sample1 | Human | Cervix | CC | 2.12e-05 | 4.26e-01 | 0.0959 |
1277 | COL1A1 | H2 | Human | Cervix | HSIL_HPV | 3.38e-03 | 2.63e-01 | 0.0632 |
1277 | COL1A1 | T1 | Human | Cervix | CC | 1.02e-16 | 5.18e-01 | 0.0918 |
1277 | COL1A1 | AEH-subject1 | Human | Endometrium | AEH | 9.32e-37 | -1.08e+00 | -0.3059 |
1277 | COL1A1 | AEH-subject2 | Human | Endometrium | AEH | 4.74e-30 | -1.06e+00 | -0.2525 |
1277 | COL1A1 | AEH-subject3 | Human | Endometrium | AEH | 5.88e-36 | -1.07e+00 | -0.2576 |
1277 | COL1A1 | AEH-subject4 | Human | Endometrium | AEH | 8.24e-03 | -4.44e-01 | -0.2657 |
1277 | COL1A1 | AEH-subject5 | Human | Endometrium | AEH | 4.00e-52 | -1.27e+00 | -0.2953 |
1277 | COL1A1 | EEC-subject1 | Human | Endometrium | EEC | 2.19e-38 | -1.16e+00 | -0.2682 |
1277 | COL1A1 | EEC-subject2 | Human | Endometrium | EEC | 1.74e-54 | -1.21e+00 | -0.2607 |
1277 | COL1A1 | EEC-subject3 | Human | Endometrium | EEC | 1.41e-61 | -1.25e+00 | -0.2525 |
1277 | COL1A1 | EEC-subject4 | Human | Endometrium | EEC | 3.33e-42 | -1.15e+00 | -0.2571 |
1277 | COL1A1 | EEC-subject5 | Human | Endometrium | EEC | 2.18e-47 | -1.19e+00 | -0.249 |
Page: 1 2 3 4 5 6 7 |
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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:001605513 | Endometrium | EEC | Wnt signaling pathway | 90/2168 | 444/18723 | 6.65e-08 | 3.50e-06 | 90 |
GO:019873813 | Endometrium | EEC | cell-cell signaling by wnt | 90/2168 | 446/18723 | 8.25e-08 | 4.23e-06 | 90 |
GO:000164914 | Endometrium | EEC | osteoblast differentiation | 53/2168 | 229/18723 | 5.32e-07 | 2.02e-05 | 53 |
GO:006082813 | Endometrium | EEC | regulation of canonical Wnt signaling pathway | 56/2168 | 253/18723 | 1.18e-06 | 3.90e-05 | 56 |
GO:000150313 | Endometrium | EEC | ossification | 79/2168 | 408/18723 | 2.72e-06 | 7.67e-05 | 79 |
GO:003450413 | Endometrium | EEC | protein localization to nucleus | 60/2168 | 290/18723 | 5.09e-06 | 1.26e-04 | 60 |
GO:007155914 | Endometrium | EEC | response to transforming growth factor beta | 54/2168 | 256/18723 | 8.25e-06 | 1.83e-04 | 54 |
GO:006007013 | Endometrium | EEC | canonical Wnt signaling pathway | 61/2168 | 303/18723 | 1.05e-05 | 2.25e-04 | 61 |
GO:007156014 | Endometrium | EEC | cellular response to transforming growth factor beta stimulus | 52/2168 | 250/18723 | 1.81e-05 | 3.41e-04 | 52 |
GO:003017713 | Endometrium | EEC | positive regulation of Wnt signaling pathway | 34/2168 | 140/18723 | 1.89e-05 | 3.50e-04 | 34 |
GO:003235514 | Endometrium | EEC | response to estradiol | 34/2168 | 141/18723 | 2.22e-05 | 3.98e-04 | 34 |
GO:007149617 | Endometrium | EEC | cellular response to external stimulus | 61/2168 | 320/18723 | 5.76e-05 | 8.97e-04 | 61 |
GO:007048216 | Endometrium | EEC | response to oxygen levels | 65/2168 | 347/18723 | 5.81e-05 | 9.03e-04 | 65 |
GO:000961213 | Endometrium | EEC | response to mechanical stimulus | 45/2168 | 216/18723 | 6.17e-05 | 9.28e-04 | 45 |
GO:003196015 | Endometrium | EEC | response to corticosteroid | 37/2168 | 167/18723 | 7.08e-05 | 1.04e-03 | 37 |
GO:004343416 | Endometrium | EEC | response to peptide hormone | 74/2168 | 414/18723 | 9.11e-05 | 1.28e-03 | 74 |
GO:003166717 | Endometrium | EEC | response to nutrient levels | 82/2168 | 474/18723 | 1.23e-04 | 1.64e-03 | 82 |
GO:004876212 | Endometrium | EEC | mesenchymal cell differentiation | 47/2168 | 236/18723 | 1.35e-04 | 1.76e-03 | 47 |
GO:009026313 | Endometrium | EEC | positive regulation of canonical Wnt signaling pathway | 26/2168 | 106/18723 | 1.46e-04 | 1.87e-03 | 26 |
GO:007135615 | Endometrium | EEC | cellular response to tumor necrosis factor | 45/2168 | 229/18723 | 2.54e-04 | 2.94e-03 | 45 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0541523 | Breast | IDC | Diabetic cardiomyopathy | 67/867 | 203/8465 | 3.17e-19 | 8.59e-18 | 6.43e-18 | 67 |
hsa0520523 | Breast | IDC | Proteoglycans in cancer | 42/867 | 205/8465 | 7.69e-06 | 9.99e-05 | 7.48e-05 | 42 |
hsa045109 | Breast | IDC | Focal adhesion | 32/867 | 203/8465 | 8.60e-03 | 4.23e-02 | 3.17e-02 | 32 |
hsa0541533 | Breast | IDC | Diabetic cardiomyopathy | 67/867 | 203/8465 | 3.17e-19 | 8.59e-18 | 6.43e-18 | 67 |
hsa0520533 | Breast | IDC | Proteoglycans in cancer | 42/867 | 205/8465 | 7.69e-06 | 9.99e-05 | 7.48e-05 | 42 |
hsa0451013 | Breast | IDC | Focal adhesion | 32/867 | 203/8465 | 8.60e-03 | 4.23e-02 | 3.17e-02 | 32 |
hsa0520516 | Cervix | CC | Proteoglycans in cancer | 60/1267 | 205/8465 | 9.13e-08 | 1.18e-06 | 7.00e-07 | 60 |
hsa0451010 | Cervix | CC | Focal adhesion | 59/1267 | 203/8465 | 1.53e-07 | 1.84e-06 | 1.09e-06 | 59 |
hsa051657 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa051465 | Cervix | CC | Amoebiasis | 29/1267 | 102/8465 | 3.31e-04 | 1.70e-03 | 1.01e-03 | 29 |
hsa049265 | Cervix | CC | Relaxin signaling pathway | 30/1267 | 129/8465 | 7.92e-03 | 2.56e-02 | 1.51e-02 | 30 |
hsa0520517 | Cervix | CC | Proteoglycans in cancer | 60/1267 | 205/8465 | 9.13e-08 | 1.18e-06 | 7.00e-07 | 60 |
hsa0451014 | Cervix | CC | Focal adhesion | 59/1267 | 203/8465 | 1.53e-07 | 1.84e-06 | 1.09e-06 | 59 |
hsa0516512 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa0514612 | Cervix | CC | Amoebiasis | 29/1267 | 102/8465 | 3.31e-04 | 1.70e-03 | 1.01e-03 | 29 |
hsa0492613 | Cervix | CC | Relaxin signaling pathway | 30/1267 | 129/8465 | 7.92e-03 | 2.56e-02 | 1.51e-02 | 30 |
hsa0541524 | Cervix | HSIL_HPV | Diabetic cardiomyopathy | 30/459 | 203/8465 | 4.38e-07 | 1.07e-05 | 8.64e-06 | 30 |
hsa045124 | Cervix | HSIL_HPV | ECM-receptor interaction | 12/459 | 89/8465 | 2.95e-03 | 1.88e-02 | 1.52e-02 | 12 |
hsa0451023 | Cervix | HSIL_HPV | Focal adhesion | 21/459 | 203/8465 | 3.24e-03 | 2.02e-02 | 1.63e-02 | 21 |
hsa0541534 | Cervix | HSIL_HPV | Diabetic cardiomyopathy | 30/459 | 203/8465 | 4.38e-07 | 1.07e-05 | 8.64e-06 | 30 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
COL1A1 | ITGA1_ITGB1 | COL1A1_ITGA1_ITGB1 | COLLAGEN | Breast | ADJ |
COL1A1 | ITGA2_ITGB1 | COL1A1_ITGA2_ITGB1 | COLLAGEN | Breast | ADJ |
COL1A1 | CD44 | COL1A1_CD44 | COLLAGEN | Breast | ADJ |
COL1A1 | SDC4 | COL1A1_SDC4 | COLLAGEN | Breast | ADJ |
COL1A1 | ITGA1_ITGB1 | COL1A1_ITGA1_ITGB1 | COLLAGEN | Breast | DCIS |
COL1A1 | ITGA2_ITGB1 | COL1A1_ITGA2_ITGB1 | COLLAGEN | Breast | DCIS |
COL1A1 | CD44 | COL1A1_CD44 | COLLAGEN | Breast | DCIS |
COL1A1 | SDC1 | COL1A1_SDC1 | COLLAGEN | Breast | DCIS |
COL1A1 | SDC4 | COL1A1_SDC4 | COLLAGEN | Breast | DCIS |
COL1A1 | ITGA1_ITGB1 | COL1A1_ITGA1_ITGB1 | COLLAGEN | Breast | Healthy |
COL1A1 | ITGA2_ITGB1 | COL1A1_ITGA2_ITGB1 | COLLAGEN | Breast | Healthy |
COL1A1 | ITGAV_ITGB8 | COL1A1_ITGAV_ITGB8 | COLLAGEN | Breast | Healthy |
COL1A1 | CD44 | COL1A1_CD44 | COLLAGEN | Breast | Healthy |
COL1A1 | SDC1 | COL1A1_SDC1 | COLLAGEN | Breast | Healthy |
COL1A1 | SDC4 | COL1A1_SDC4 | COLLAGEN | Breast | Healthy |
COL1A1 | ITGA1_ITGB1 | COL1A1_ITGA1_ITGB1 | COLLAGEN | Breast | IDC |
COL1A1 | CD44 | COL1A1_CD44 | COLLAGEN | Breast | IDC |
COL1A1 | SDC1 | COL1A1_SDC1 | COLLAGEN | Breast | IDC |
COL1A1 | SDC4 | COL1A1_SDC4 | COLLAGEN | Breast | IDC |
COL1A1 | ITGA1_ITGB1 | COL1A1_ITGA1_ITGB1 | COLLAGEN | Breast | Precancer |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 |
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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 |
COL1A1 | SNV | Missense_Mutation | novel | c.1591N>A | p.Glu531Lys | p.E531K | P02452 | protein_coding | deleterious(0.04) | benign(0.297) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
COL1A1 | SNV | Missense_Mutation | c.1918C>A | p.Pro640Thr | p.P640T | P02452 | protein_coding | tolerated(0.26) | benign(0.011) | TCGA-A8-A075-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | CR | |
COL1A1 | SNV | Missense_Mutation | c.944N>T | p.Ala315Val | p.A315V | P02452 | protein_coding | deleterious(0.03) | benign(0.21) | TCGA-A8-A08X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | PD | |
COL1A1 | SNV | Missense_Mutation | novel | c.2252N>G | p.Lys751Arg | p.K751R | P02452 | protein_coding | tolerated(0.31) | probably_damaging(0.998) | TCGA-A8-A08Z-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
COL1A1 | SNV | Missense_Mutation | novel | c.2390N>A | p.Gly797Asp | p.G797D | P02452 | protein_coding | deleterious(0.01) | benign(0.058) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL1A1 | SNV | Missense_Mutation | novel | c.551C>G | p.Ser184Cys | p.S184C | P02452 | protein_coding | tolerated(0.06) | benign(0.371) | TCGA-BH-A0BP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL1A1 | SNV | Missense_Mutation | rs72648365 | c.1720C>T | p.Arg574Cys | p.R574C | P02452 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
COL1A1 | SNV | Missense_Mutation | c.4145G>A | p.Gly1382Asp | p.G1382D | P02452 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-C8-A132-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
COL1A1 | SNV | Missense_Mutation | rs72656322 | c.3460G>C | p.Gly1154Arg | p.G1154R | P02452 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C8-A132-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL1A1 | SNV | Missense_Mutation | c.3217G>A | p.Gly1073Ser | p.G1073S | P02452 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-C8-A132-01 | Breast | breast invasive 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 |
1277 | COL1A1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | CHEMBL2108709 | COLLAGENASE CLOSTRIDIUM HISTOLYTICUM | ||
1277 | COL1A1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | somatropin recombinant | 22026923 | ||
1277 | COL1A1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | valproic acid | 26727275 | ||
1277 | COL1A1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | CHEMBL2095222 | OCRIPLASMIN | ||
1277 | COL1A1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | COLLAGENASE CLOSTRIDIUM HISTOLYTICUM | |||
1277 | COL1A1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | COLLAGENASE CLOSTRIDIUM HISTOLYTICUM | |||
1277 | COL1A1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | COLLAGENASE | COLLAGENASE CLOSTRIDIUM HISTOLYTICUM |
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