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Gene: COL19A1 |
Gene summary for COL19A1 |
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Gene information | Species | Human | Gene symbol | COL19A1 | Gene ID | 1310 |
Gene name | collagen type XIX alpha 1 chain | |
Gene Alias | COL9A1L | |
Cytomap | 6q13 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | Q14993 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1310 | COL19A1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.91e-11 | -3.58e-01 | 0.0155 |
1310 | COL19A1 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.30e-04 | -3.30e-01 | -0.1088 |
1310 | COL19A1 | HTA11_347_2000001011 | Human | Colorectum | AD | 3.09e-08 | -3.33e-01 | -0.1954 |
1310 | COL19A1 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.19e-07 | -3.15e-01 | -0.1464 |
1310 | COL19A1 | HTA11_866_2000001011 | Human | Colorectum | AD | 7.11e-06 | -3.18e-01 | -0.1001 |
1310 | COL19A1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 2.04e-02 | -3.63e-01 | -0.0179 |
1310 | COL19A1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.21e-07 | -3.44e-01 | 0.096 |
1310 | COL19A1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.75e-06 | -3.39e-01 | 0.0674 |
1310 | COL19A1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 2.06e-11 | -3.53e-01 | 0.294 |
1310 | COL19A1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.67e-02 | -3.38e-01 | 0.281 |
1310 | COL19A1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.62e-11 | -3.37e-01 | 0.3859 |
1310 | COL19A1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 8.14e-08 | -3.23e-01 | 0.3005 |
1310 | COL19A1 | A002-C-010 | Human | Colorectum | FAP | 1.56e-05 | -1.47e-01 | 0.242 |
1310 | COL19A1 | A015-C-203 | Human | Colorectum | FAP | 7.69e-49 | 9.59e-01 | -0.1294 |
1310 | COL19A1 | A015-C-204 | Human | Colorectum | FAP | 1.47e-24 | 9.79e-01 | -0.0228 |
1310 | COL19A1 | A014-C-040 | Human | Colorectum | FAP | 2.30e-13 | 1.02e+00 | -0.1184 |
1310 | COL19A1 | A002-C-201 | Human | Colorectum | FAP | 7.94e-21 | 7.86e-01 | 0.0324 |
1310 | COL19A1 | A001-C-119 | Human | Colorectum | FAP | 1.25e-53 | 1.37e+00 | -0.1557 |
1310 | COL19A1 | A001-C-108 | Human | Colorectum | FAP | 3.02e-26 | 7.17e-01 | -0.0272 |
1310 | COL19A1 | A002-C-021 | Human | Colorectum | FAP | 2.49e-11 | 5.23e-01 | 0.1171 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0060537 | Colorectum | CRC | muscle tissue development | 63/2078 | 403/18723 | 3.17e-03 | 2.78e-02 | 63 |
GO:0014706 | Colorectum | CRC | striated muscle tissue development | 59/2078 | 384/18723 | 6.11e-03 | 4.47e-02 | 59 |
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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 |
COL19A1 | SNV | Missense_Mutation | novel | c.358N>A | p.Trp120Arg | p.W120R | Q14993 | protein_coding | deleterious(0) | probably_damaging(0.942) | TCGA-ZJ-AAXI-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
COL19A1 | SNV | Missense_Mutation | c.2414C>T | p.Pro805Leu | p.P805L | Q14993 | protein_coding | tolerated(0.08) | benign(0.138) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
COL19A1 | SNV | Missense_Mutation | c.52N>T | p.Leu18Phe | p.L18F | Q14993 | protein_coding | tolerated(0.22) | benign(0.007) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
COL19A1 | SNV | Missense_Mutation | c.589N>C | p.Thr197Pro | p.T197P | Q14993 | protein_coding | deleterious(0.03) | possibly_damaging(0.767) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
COL19A1 | SNV | Missense_Mutation | c.837N>T | p.Gln279His | p.Q279H | Q14993 | protein_coding | tolerated(0.08) | possibly_damaging(0.656) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
COL19A1 | SNV | Missense_Mutation | c.813N>A | p.Met271Ile | p.M271I | Q14993 | protein_coding | tolerated(0.85) | benign(0) | TCGA-AA-3680-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | folinic | PD | |
COL19A1 | SNV | Missense_Mutation | c.2410N>A | p.Gly804Arg | p.G804R | Q14993 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
COL19A1 | SNV | Missense_Mutation | c.1118N>T | p.Gly373Val | p.G373V | Q14993 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AD-6548-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
COL19A1 | SNV | Missense_Mutation | c.265N>G | p.Ile89Val | p.I89V | Q14993 | protein_coding | tolerated(0.28) | benign(0) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
COL19A1 | SNV | Missense_Mutation | c.52N>T | p.Leu18Phe | p.L18F | Q14993 | protein_coding | tolerated(0.22) | benign(0.007) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | 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 |
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