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Gene: COL27A1 |
Gene summary for COL27A1 |
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Gene information | Species | Human | Gene symbol | COL27A1 | Gene ID | 85301 |
Gene name | collagen type XXVII alpha 1 chain | |
Gene Alias | STLS | |
Cytomap | 9q32 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | Q8IZC6 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
85301 | COL27A1 | CCI_1 | Human | Cervix | CC | 2.05e-09 | 9.17e-01 | 0.528 |
85301 | COL27A1 | CCI_3 | Human | Cervix | CC | 7.72e-13 | 1.01e+00 | 0.516 |
85301 | COL27A1 | CCII_1 | Human | Cervix | CC | 3.53e-03 | 2.99e-01 | 0.3249 |
85301 | COL27A1 | sample3 | Human | Cervix | CC | 1.26e-04 | 1.58e-01 | 0.1387 |
85301 | COL27A1 | T2 | Human | Cervix | CC | 1.24e-07 | 5.21e-01 | 0.0709 |
85301 | COL27A1 | T3 | Human | Cervix | CC | 1.10e-03 | 2.04e-01 | 0.1389 |
85301 | COL27A1 | HTA11_8622_2000001021 | Human | Colorectum | SER | 2.44e-02 | 4.15e-01 | 0.0528 |
85301 | COL27A1 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 3.07e-03 | 7.23e-01 | 0.3487 |
85301 | COL27A1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.04e-16 | 5.81e-01 | 0.281 |
85301 | COL27A1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 3.17e-07 | 2.99e-01 | 0.3859 |
85301 | COL27A1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 9.63e-23 | 5.25e-01 | 0.3005 |
85301 | COL27A1 | A001-C-007 | Human | Colorectum | CRC | 6.41e-07 | 5.66e-01 | 0.1899 |
85301 | COL27A1 | CRC-1-8810 | Human | Colorectum | CRC | 1.60e-16 | 5.98e-01 | 0.6257 |
85301 | COL27A1 | CRC-3-11773 | Human | Colorectum | CRC | 4.36e-06 | 3.79e-01 | 0.2564 |
85301 | COL27A1 | LZE4T | Human | Esophagus | ESCC | 2.16e-09 | 2.24e-01 | 0.0811 |
85301 | COL27A1 | LZE8T | Human | Esophagus | ESCC | 1.59e-05 | 1.88e-01 | 0.067 |
85301 | COL27A1 | LZE24T | Human | Esophagus | ESCC | 3.58e-03 | 1.08e-01 | 0.0596 |
85301 | COL27A1 | P1T-E | Human | Esophagus | ESCC | 3.82e-04 | 7.82e-01 | 0.0875 |
85301 | COL27A1 | P2T-E | Human | Esophagus | ESCC | 1.16e-33 | 7.60e-01 | 0.1177 |
85301 | COL27A1 | P4T-E | Human | Esophagus | ESCC | 4.21e-03 | 1.60e-01 | 0.1323 |
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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:0030198 | Cervix | CC | extracellular matrix organization | 52/2311 | 301/18723 | 7.43e-03 | 3.98e-02 | 52 |
GO:0043062 | Cervix | CC | extracellular structure organization | 52/2311 | 302/18723 | 7.92e-03 | 4.17e-02 | 52 |
GO:0045229 | Cervix | CC | external encapsulating structure organization | 52/2311 | 304/18723 | 9.00e-03 | 4.57e-02 | 52 |
GO:0003413 | Colorectum | MSS | chondrocyte differentiation involved in endochondral bone morphogenesis | 8/3467 | 14/18723 | 1.42e-03 | 1.32e-02 | 8 |
GO:0060348 | Colorectum | CRC | bone development | 37/2078 | 205/18723 | 1.96e-03 | 1.96e-02 | 37 |
GO:0002062 | Colorectum | CRC | chondrocyte differentiation | 21/2078 | 106/18723 | 5.87e-03 | 4.33e-02 | 21 |
GO:0048705 | Colorectum | CRC | skeletal system morphogenesis | 37/2078 | 220/18723 | 6.58e-03 | 4.71e-02 | 37 |
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:00603485 | Esophagus | ESCC | bone development | 115/8552 | 205/18723 | 1.67e-03 | 7.72e-03 | 115 |
GO:0003416 | Esophagus | ESCC | endochondral bone growth | 19/8552 | 26/18723 | 4.31e-03 | 1.71e-02 | 19 |
GO:00487052 | Esophagus | ESCC | skeletal system morphogenesis | 120/8552 | 220/18723 | 4.90e-03 | 1.89e-02 | 120 |
GO:00512161 | Esophagus | ESCC | cartilage development | 103/8552 | 190/18723 | 1.08e-02 | 3.67e-02 | 103 |
GO:00020623 | Esophagus | ESCC | chondrocyte differentiation | 60/8552 | 106/18723 | 1.53e-02 | 4.94e-02 | 60 |
GO:00603481 | Liver | NAFLD | bone development | 33/1882 | 205/18723 | 4.45e-03 | 3.60e-02 | 33 |
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:00603484 | Oral cavity | OSCC | bone development | 99/7305 | 205/18723 | 4.13e-03 | 1.68e-02 | 99 |
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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 |
COL27A1 | SNV | Missense_Mutation | c.2707N>A | p.Pro903Thr | p.P903T | Q8IZC6 | protein_coding | probably_damaging(0.999) | TCGA-EA-A50E-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD | ||
COL27A1 | SNV | Missense_Mutation | c.3634G>C | p.Asp1212His | p.D1212H | Q8IZC6 | protein_coding | probably_damaging(0.984) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | ||
COL27A1 | SNV | Missense_Mutation | rs138913107 | c.2960N>T | p.Pro987Leu | p.P987L | Q8IZC6 | protein_coding | probably_damaging(0.999) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | |
COL27A1 | SNV | Missense_Mutation | rs532724249 | c.5314N>A | p.Val1772Met | p.V1772M | Q8IZC6 | protein_coding | probably_damaging(0.993) | TCGA-A6-4105-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
COL27A1 | SNV | Missense_Mutation | novel | c.550N>T | p.Pro184Ser | p.P184S | Q8IZC6 | protein_coding | benign(0) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
COL27A1 | SNV | Missense_Mutation | c.3916G>A | p.Gly1306Arg | p.G1306R | Q8IZC6 | protein_coding | probably_damaging(1) | TCGA-A6-6138-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
COL27A1 | SNV | Missense_Mutation | c.1046N>A | p.Arg349His | p.R349H | Q8IZC6 | protein_coding | benign(0) | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
COL27A1 | SNV | Missense_Mutation | c.2938N>A | p.Glu980Lys | p.E980K | Q8IZC6 | protein_coding | probably_damaging(0.994) | TCGA-AA-3494-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folinic | PR | ||
COL27A1 | SNV | Missense_Mutation | rs771010276 | c.346N>A | p.Ala116Thr | p.A116T | Q8IZC6 | protein_coding | benign(0.168) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
COL27A1 | SNV | Missense_Mutation | rs144241003 | c.1424G>A | p.Arg475His | p.R475H | Q8IZC6 | protein_coding | benign(0) | TCGA-AA-3530-01 | Colorectum | colon adenocarcinoma | Male | >=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 |
85301 | COL27A1 | DRUGGABLE GENOME | CHEMBL2095222 | OCRIPLASMIN | ||
85301 | COL27A1 | DRUGGABLE GENOME | CHEMBL2108709 | COLLAGENASE CLOSTRIDIUM HISTOLYTICUM |
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