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Gene: C2orf76 |
Gene summary for C2ORF76 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | C2orf76 | Gene ID | 130355 |
| Gene name | chromosome 2 open reading frame 76 | |
| Gene Alias | AIM29 | |
| Cytomap | 2q14.2 | |
| Gene Type | protein-coding | GO ID | GO:0003674 | UniProtAcc | Q3KRA6 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 130355 | C2orf76 | LZE4T | Human | Esophagus | ESCC | 5.28e-09 | 1.88e-01 | 0.0811 |
| 130355 | C2orf76 | LZE7T | Human | Esophagus | ESCC | 7.17e-09 | 3.19e-01 | 0.0667 |
| 130355 | C2orf76 | LZE24T | Human | Esophagus | ESCC | 4.60e-06 | 9.99e-02 | 0.0596 |
| 130355 | C2orf76 | P1T-E | Human | Esophagus | ESCC | 3.38e-02 | 2.49e-01 | 0.0875 |
| 130355 | C2orf76 | P2T-E | Human | Esophagus | ESCC | 2.68e-09 | 1.66e-01 | 0.1177 |
| 130355 | C2orf76 | P4T-E | Human | Esophagus | ESCC | 2.20e-26 | 4.91e-01 | 0.1323 |
| 130355 | C2orf76 | P5T-E | Human | Esophagus | ESCC | 3.22e-23 | 3.56e-01 | 0.1327 |
| 130355 | C2orf76 | P8T-E | Human | Esophagus | ESCC | 2.32e-11 | 1.30e-01 | 0.0889 |
| 130355 | C2orf76 | P9T-E | Human | Esophagus | ESCC | 7.25e-12 | 2.39e-01 | 0.1131 |
| 130355 | C2orf76 | P10T-E | Human | Esophagus | ESCC | 1.90e-29 | 5.53e-01 | 0.116 |
| 130355 | C2orf76 | P11T-E | Human | Esophagus | ESCC | 9.26e-05 | 2.72e-01 | 0.1426 |
| 130355 | C2orf76 | P12T-E | Human | Esophagus | ESCC | 1.02e-30 | 6.18e-01 | 0.1122 |
| 130355 | C2orf76 | P15T-E | Human | Esophagus | ESCC | 1.57e-22 | 2.41e-01 | 0.1149 |
| 130355 | C2orf76 | P16T-E | Human | Esophagus | ESCC | 3.73e-16 | 2.59e-01 | 0.1153 |
| 130355 | C2orf76 | P17T-E | Human | Esophagus | ESCC | 2.08e-04 | 1.26e-01 | 0.1278 |
| 130355 | C2orf76 | P19T-E | Human | Esophagus | ESCC | 1.78e-09 | 4.55e-01 | 0.1662 |
| 130355 | C2orf76 | P20T-E | Human | Esophagus | ESCC | 5.64e-18 | 1.80e-01 | 0.1124 |
| 130355 | C2orf76 | P21T-E | Human | Esophagus | ESCC | 1.13e-16 | 3.07e-01 | 0.1617 |
| 130355 | C2orf76 | P22T-E | Human | Esophagus | ESCC | 2.45e-34 | 5.86e-01 | 0.1236 |
| 130355 | C2orf76 | P23T-E | Human | Esophagus | ESCC | 4.13e-20 | 3.92e-01 | 0.108 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| C2orf76 | SNV | Missense_Mutation | c.313N>G | p.Thr105Ala | p.T105A | Q3KRA6 | protein_coding | deleterious(0.01) | possibly_damaging(0.873) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD | |
| C2orf76 | insertion | Frame_Shift_Ins | novel | c.44_45insAGACCCACCTA | p.Phe16AspfsTer13 | p.F16Dfs*13 | Q3KRA6 | protein_coding | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| C2orf76 | SNV | Missense_Mutation | rs200764717 | c.118N>A | p.Val40Ile | p.V40I | Q3KRA6 | protein_coding | tolerated(0.19) | benign(0.005) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
| C2orf76 | SNV | Missense_Mutation | rs780592227 | c.56N>A | p.Arg19His | p.R19H | Q3KRA6 | protein_coding | tolerated(0.06) | possibly_damaging(0.618) | TCGA-CA-6716-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | oxaliplatin | CR |
| C2orf76 | SNV | Missense_Mutation | rs374956671 | c.256G>A | p.Glu86Lys | p.E86K | Q3KRA6 | protein_coding | tolerated(0.06) | benign(0.007) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
| C2orf76 | SNV | Missense_Mutation | c.99A>C | p.Gln33His | p.Q33H | Q3KRA6 | protein_coding | tolerated(0.08) | probably_damaging(0.922) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| C2orf76 | SNV | Missense_Mutation | c.281N>T | p.Ser94Ile | p.S94I | Q3KRA6 | protein_coding | tolerated(0.14) | benign(0.023) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD | |
| C2orf76 | SNV | Missense_Mutation | rs771993808 | c.32N>A | p.Arg11His | p.R11H | Q3KRA6 | protein_coding | deleterious(0.04) | probably_damaging(0.994) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
| C2orf76 | SNV | Missense_Mutation | rs780592227 | c.56N>A | p.Arg19His | p.R19H | Q3KRA6 | protein_coding | tolerated(0.06) | possibly_damaging(0.618) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| C2orf76 | SNV | Missense_Mutation | rs374956671 | c.256N>A | p.Glu86Lys | p.E86K | Q3KRA6 | protein_coding | tolerated(0.06) | benign(0.007) | TCGA-D1-A16Y-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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