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Gene: C12orf49 |
Gene summary for C12ORF49 |
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Gene information | Species | Human | Gene symbol | C12orf49 | Gene ID | 79794 |
Gene name | SREBF pathway regulator in golgi 1 | |
Gene Alias | C12orf49 | |
Cytomap | 12q24.22 | |
Gene Type | protein-coding | GO ID | GO:0006950 | UniProtAcc | A0A024RBQ8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
79794 | C12orf49 | LZE24T | Human | Esophagus | ESCC | 8.80e-06 | 1.22e-01 | 0.0596 |
79794 | C12orf49 | P1T-E | Human | Esophagus | ESCC | 4.72e-04 | 2.44e-01 | 0.0875 |
79794 | C12orf49 | P2T-E | Human | Esophagus | ESCC | 4.09e-35 | 5.15e-01 | 0.1177 |
79794 | C12orf49 | P4T-E | Human | Esophagus | ESCC | 7.78e-18 | 4.22e-01 | 0.1323 |
79794 | C12orf49 | P5T-E | Human | Esophagus | ESCC | 4.12e-18 | 2.33e-01 | 0.1327 |
79794 | C12orf49 | P8T-E | Human | Esophagus | ESCC | 3.81e-15 | 3.09e-01 | 0.0889 |
79794 | C12orf49 | P9T-E | Human | Esophagus | ESCC | 1.59e-05 | 8.62e-02 | 0.1131 |
79794 | C12orf49 | P10T-E | Human | Esophagus | ESCC | 9.31e-16 | 1.22e-01 | 0.116 |
79794 | C12orf49 | P12T-E | Human | Esophagus | ESCC | 2.81e-11 | 8.00e-02 | 0.1122 |
79794 | C12orf49 | P15T-E | Human | Esophagus | ESCC | 1.79e-07 | 1.05e-01 | 0.1149 |
79794 | C12orf49 | P16T-E | Human | Esophagus | ESCC | 6.01e-17 | 1.73e-01 | 0.1153 |
79794 | C12orf49 | P17T-E | Human | Esophagus | ESCC | 2.04e-02 | 8.80e-02 | 0.1278 |
79794 | C12orf49 | P20T-E | Human | Esophagus | ESCC | 6.91e-12 | 1.45e-01 | 0.1124 |
79794 | C12orf49 | P21T-E | Human | Esophagus | ESCC | 2.26e-18 | 2.47e-01 | 0.1617 |
79794 | C12orf49 | P22T-E | Human | Esophagus | ESCC | 1.30e-05 | 9.16e-02 | 0.1236 |
79794 | C12orf49 | P23T-E | Human | Esophagus | ESCC | 1.95e-11 | 1.93e-01 | 0.108 |
79794 | C12orf49 | P24T-E | Human | Esophagus | ESCC | 9.42e-06 | 6.66e-02 | 0.1287 |
79794 | C12orf49 | P26T-E | Human | Esophagus | ESCC | 2.78e-14 | 1.90e-01 | 0.1276 |
79794 | C12orf49 | P27T-E | Human | Esophagus | ESCC | 4.26e-10 | 1.05e-01 | 0.1055 |
79794 | C12orf49 | P28T-E | Human | Esophagus | ESCC | 1.03e-10 | 1.87e-01 | 0.1149 |
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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 |
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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 |
C12orf49 | SNV | Missense_Mutation | rs149801903 | c.212C>T | p.Pro71Leu | p.P71L | Q9H741 | protein_coding | tolerated(0.46) | benign(0) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
C12orf49 | SNV | Missense_Mutation | novel | c.208N>A | p.Arg70Ser | p.R70S | Q9H741 | protein_coding | tolerated(0.68) | benign(0.226) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
C12orf49 | SNV | Missense_Mutation | novel | c.211C>A | p.Pro71Thr | p.P71T | Q9H741 | protein_coding | tolerated(0.6) | benign(0.062) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
C12orf49 | SNV | Missense_Mutation | c.226C>T | p.Arg76Cys | p.R76C | Q9H741 | protein_coding | deleterious(0) | possibly_damaging(0.877) | TCGA-EY-A549-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
C12orf49 | insertion | Frame_Shift_Ins | novel | c.453_456dupAGCC | p.Val153SerfsTer16 | p.V153Sfs*16 | Q9H741 | protein_coding | TCGA-B5-A0JU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
C12orf49 | SNV | Missense_Mutation | c.32G>A | p.Arg11Gln | p.R11Q | Q9H741 | protein_coding | deleterious(0.01) | possibly_damaging(0.885) | TCGA-95-7039-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
C12orf49 | SNV | Missense_Mutation | novel | c.45G>C | p.Lys15Asn | p.K15N | Q9H741 | protein_coding | deleterious(0.01) | probably_damaging(0.95) | TCGA-BA-5152-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
C12orf49 | SNV | Missense_Mutation | rs765929401 | c.227N>A | p.Arg76His | p.R76H | Q9H741 | protein_coding | deleterious(0) | possibly_damaging(0.877) | TCGA-BR-6452-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
C12orf49 | SNV | Missense_Mutation | c.188T>G | p.Phe63Cys | p.F63C | Q9H741 | protein_coding | tolerated(0.17) | benign(0.43) | TCGA-BR-8589-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
C12orf49 | SNV | Missense_Mutation | c.506N>A | p.Cys169Tyr | p.C169Y | Q9H741 | protein_coding | deleterious(0) | possibly_damaging(0.814) | TCGA-BR-8679-01 | Stomach | stomach adenocarcinoma | 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 |
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