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Gene: C19orf70 |
Gene summary for C19ORF70 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | C19orf70 | Gene ID | 125988 |
| Gene name | mitochondrial contact site and cristae organizing system subunit 13 | |
| Gene Alias | C19orf70 | |
| Cytomap | 19p13.3 | |
| Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | A0A140TA86 |
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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 |
| 125988 | C19orf70 | GSM4909282 | Human | Breast | IDC | 1.11e-02 | -3.19e-01 | -0.0288 |
| 125988 | C19orf70 | GSM4909285 | Human | Breast | IDC | 1.44e-05 | -3.07e-01 | 0.21 |
| 125988 | C19orf70 | GSM4909294 | Human | Breast | IDC | 1.70e-03 | 1.24e-01 | 0.2022 |
| 125988 | C19orf70 | GSM4909296 | Human | Breast | IDC | 4.22e-10 | -1.43e-03 | 0.1524 |
| 125988 | C19orf70 | GSM4909297 | Human | Breast | IDC | 2.34e-13 | -1.20e-01 | 0.1517 |
| 125988 | C19orf70 | GSM4909298 | Human | Breast | IDC | 8.67e-06 | 3.03e-01 | 0.1551 |
| 125988 | C19orf70 | GSM4909301 | Human | Breast | IDC | 2.10e-08 | 3.04e-01 | 0.1577 |
| 125988 | C19orf70 | GSM4909304 | Human | Breast | IDC | 2.98e-12 | 4.43e-01 | 0.1636 |
| 125988 | C19orf70 | GSM4909306 | Human | Breast | IDC | 5.45e-03 | 3.19e-01 | 0.1564 |
| 125988 | C19orf70 | GSM4909308 | Human | Breast | IDC | 6.00e-05 | 2.57e-01 | 0.158 |
| 125988 | C19orf70 | GSM4909311 | Human | Breast | IDC | 5.51e-31 | -1.60e-01 | 0.1534 |
| 125988 | C19orf70 | GSM4909312 | Human | Breast | IDC | 2.07e-12 | -9.99e-02 | 0.1552 |
| 125988 | C19orf70 | GSM4909315 | Human | Breast | IDC | 9.05e-08 | 2.99e-01 | 0.21 |
| 125988 | C19orf70 | GSM4909316 | Human | Breast | IDC | 9.22e-05 | 2.29e-01 | 0.21 |
| 125988 | C19orf70 | GSM4909319 | Human | Breast | IDC | 1.32e-45 | -1.80e-01 | 0.1563 |
| 125988 | C19orf70 | GSM4909320 | Human | Breast | IDC | 2.74e-127 | 1.76e+00 | 0.1575 |
| 125988 | C19orf70 | GSM4909321 | Human | Breast | IDC | 4.36e-197 | 1.56e+00 | 0.1559 |
| 125988 | C19orf70 | brca2 | Human | Breast | Precancer | 9.52e-04 | 2.23e-01 | -0.024 |
| 125988 | C19orf70 | M2 | Human | Breast | IDC | 2.28e-02 | -1.15e-01 | 0.21 |
| 125988 | C19orf70 | NCCBC14 | Human | Breast | DCIS | 4.73e-09 | -1.28e-01 | 0.2021 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| 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 |
| C19orf70 | SNV | Missense_Mutation | novel | c.333N>A | p.Met111Ile | p.M111I | protein_coding | tolerated(0.55) | benign(0.001) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD | |
| C19orf70 | SNV | Missense_Mutation | rs767797342 | c.274N>G | p.Leu92Val | p.L92V | protein_coding | tolerated(0.1) | benign(0.172) | TCGA-AN-A0XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| C19orf70 | SNV | Missense_Mutation | novel | c.370G>A | p.Ala124Thr | p.A124T | protein_coding | tolerated(0.13) | probably_damaging(0.918) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| C19orf70 | SNV | Missense_Mutation | novel | c.291G>T | p.Lys97Asn | p.K97N | protein_coding | tolerated(0.08) | possibly_damaging(0.772) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| C19orf70 | deletion | Frame_Shift_Del | novel | c.363delN | p.Ser122ProfsTer14 | p.S122Pfs*14 | protein_coding | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
| C19orf70 | deletion | Frame_Shift_Del | rs751944867 | c.216delN | p.Ala73ProfsTer39 | p.A73Pfs*39 | protein_coding | TCGA-DM-A1HB-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |||
| C19orf70 | SNV | Missense_Mutation | rs773529324 | c.308G>A | p.Arg103His | p.R103H | protein_coding | tolerated(0.48) | benign(0.062) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| C19orf70 | SNV | Missense_Mutation | rs773529324 | c.308G>A | p.Arg103His | p.R103H | protein_coding | tolerated(0.48) | benign(0.062) | TCGA-A5-A0GG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| C19orf70 | SNV | Missense_Mutation | c.307N>A | p.Arg103Ser | p.R103S | protein_coding | tolerated(0.72) | possibly_damaging(0.822) | TCGA-BG-A18B-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| C19orf70 | SNV | Missense_Mutation | novel | c.241N>A | p.Val81Met | p.V81M | protein_coding | tolerated(0.07) | possibly_damaging(0.868) | TCGA-D1-A161-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 |
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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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