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Gene: C9orf3 |
Gene summary for C9ORF3 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | C9orf3 | Gene ID | 84909 |
| Gene name | aminopeptidase O (putative) | |
| Gene Alias | AP-O | |
| Cytomap | 9q22.32 | |
| Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | Q8N6M6 |
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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 |
| 84909 | C9orf3 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 1.25e-47 | -6.70e-01 | -0.1917 |
| 84909 | C9orf3 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 2.86e-43 | -6.92e-01 | -0.1916 |
| 84909 | C9orf3 | GSM6177623_NYU_UCEC3_Vis | Human | Endometrium | EEC | 7.92e-08 | -4.06e-01 | -0.1269 |
| 84909 | C9orf3 | LZE4T | Human | Esophagus | ESCC | 6.82e-07 | -4.64e-01 | 0.0811 |
| 84909 | C9orf3 | LZE7T | Human | Esophagus | ESCC | 7.85e-03 | -4.64e-01 | 0.0667 |
| 84909 | C9orf3 | LZE8T | Human | Esophagus | ESCC | 4.31e-06 | -4.64e-01 | 0.067 |
| 84909 | C9orf3 | LZE20T | Human | Esophagus | ESCC | 3.16e-06 | -4.64e-01 | 0.0662 |
| 84909 | C9orf3 | LZE22D1 | Human | Esophagus | HGIN | 1.12e-02 | -4.64e-01 | 0.0595 |
| 84909 | C9orf3 | LZE24T | Human | Esophagus | ESCC | 2.21e-10 | -4.64e-01 | 0.0596 |
| 84909 | C9orf3 | LZE6T | Human | Esophagus | ESCC | 1.35e-03 | -4.64e-01 | 0.0845 |
| 84909 | C9orf3 | P1T-E | Human | Esophagus | ESCC | 7.41e-06 | 5.47e-01 | 0.0875 |
| 84909 | C9orf3 | P2T-E | Human | Esophagus | ESCC | 2.27e-33 | 7.95e-01 | 0.1177 |
| 84909 | C9orf3 | P4T-E | Human | Esophagus | ESCC | 3.74e-58 | 2.11e+00 | 0.1323 |
| 84909 | C9orf3 | P5T-E | Human | Esophagus | ESCC | 3.97e-10 | 4.62e-01 | 0.1327 |
| 84909 | C9orf3 | P8T-E | Human | Esophagus | ESCC | 3.58e-19 | 6.51e-01 | 0.0889 |
| 84909 | C9orf3 | P9T-E | Human | Esophagus | ESCC | 1.07e-24 | 1.02e+00 | 0.1131 |
| 84909 | C9orf3 | P10T-E | Human | Esophagus | ESCC | 2.92e-53 | 1.15e+00 | 0.116 |
| 84909 | C9orf3 | P11T-E | Human | Esophagus | ESCC | 9.66e-19 | 1.30e+00 | 0.1426 |
| 84909 | C9orf3 | P12T-E | Human | Esophagus | ESCC | 7.24e-40 | 1.15e+00 | 0.1122 |
| 84909 | C9orf3 | P15T-E | Human | Esophagus | ESCC | 3.68e-12 | 4.90e-01 | 0.1149 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| Page: 1 |
| 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 |
| C9orf3 | SNV | Missense_Mutation | c.1138N>G | p.His380Asp | p.H380D | Q8N6M6 | protein_coding | deleterious(0) | possibly_damaging(0.893) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| C9orf3 | SNV | Missense_Mutation | c.886G>A | p.Ala296Thr | p.A296T | Q8N6M6 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| C9orf3 | SNV | Missense_Mutation | c.455N>T | p.Ser152Phe | p.S152F | Q8N6M6 | protein_coding | deleterious(0) | possibly_damaging(0.901) | TCGA-BH-A0B4-01 | Breast | breast invasive carcinoma | Male | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD | |
| C9orf3 | SNV | Missense_Mutation | c.757N>A | p.Glu253Lys | p.E253K | Q8N6M6 | protein_coding | tolerated(0.26) | benign(0.048) | TCGA-BH-A18V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| C9orf3 | SNV | Missense_Mutation | c.259N>T | p.Ala87Ser | p.A87S | Q8N6M6 | protein_coding | tolerated_low_confidence(0.19) | benign(0.003) | TCGA-C8-A138-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| C9orf3 | SNV | Missense_Mutation | c.260N>T | p.Ala87Val | p.A87V | Q8N6M6 | protein_coding | tolerated_low_confidence(0.49) | benign(0.003) | TCGA-C8-A138-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| C9orf3 | SNV | Missense_Mutation | novel | c.520N>T | p.Pro174Ser | p.P174S | Q8N6M6 | protein_coding | tolerated(0.36) | benign(0) | TCGA-EW-A2FR-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | epirubicin | SD |
| C9orf3 | insertion | Nonsense_Mutation | novel | c.905_906insTTCAGAGTTATAGCTCTGGATACCAAGTGGAAGCT | p.Phe304GlufsTer3 | p.F304Efs*3 | Q8N6M6 | protein_coding | TCGA-BH-A0HK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| C9orf3 | SNV | Missense_Mutation | novel | c.1157N>A | p.Arg386His | p.R386H | Q8N6M6 | protein_coding | tolerated(0.05) | probably_damaging(0.997) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| C9orf3 | SNV | Missense_Mutation | novel | c.1546N>T | p.Ala516Ser | p.A516S | Q8N6M6 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| Page: 1 2 3 4 5 6 7 8 |
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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 |
| Page: 1 |
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