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Gene: C19orf43 |
Gene summary for C19ORF43 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | C19orf43 | Gene ID | 79002 |
| Gene name | telomerase RNA component interacting RNase | |
| Gene Alias | C19orf43 | |
| Cytomap | 19p13.13 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | K7EN60 |
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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 |
| 79002 | C19orf43 | GSM4909280 | Human | Breast | Precancer | 2.22e-02 | -4.13e-01 | 0.0305 |
| 79002 | C19orf43 | GSM4909281 | Human | Breast | IDC | 1.24e-19 | -4.13e-01 | 0.21 |
| 79002 | C19orf43 | GSM4909282 | Human | Breast | IDC | 2.31e-20 | -4.13e-01 | -0.0288 |
| 79002 | C19orf43 | GSM4909285 | Human | Breast | IDC | 1.24e-19 | -4.13e-01 | 0.21 |
| 79002 | C19orf43 | GSM4909286 | Human | Breast | IDC | 6.58e-19 | -4.13e-01 | 0.1081 |
| 79002 | C19orf43 | GSM4909287 | Human | Breast | IDC | 4.10e-23 | -4.13e-01 | 0.2057 |
| 79002 | C19orf43 | GSM4909288 | Human | Breast | IDC | 1.48e-05 | -4.13e-01 | 0.0988 |
| 79002 | C19orf43 | GSM4909289 | Human | Breast | IDC | 6.81e-04 | -4.13e-01 | 0.1064 |
| 79002 | C19orf43 | GSM4909290 | Human | Breast | IDC | 1.25e-16 | -4.13e-01 | 0.2096 |
| 79002 | C19orf43 | GSM4909291 | Human | Breast | IDC | 1.61e-13 | -4.13e-01 | 0.1753 |
| 79002 | C19orf43 | GSM4909293 | Human | Breast | IDC | 5.35e-20 | -4.13e-01 | 0.1581 |
| 79002 | C19orf43 | GSM4909294 | Human | Breast | IDC | 2.31e-20 | -4.13e-01 | 0.2022 |
| 79002 | C19orf43 | GSM4909295 | Human | Breast | IDC | 1.15e-10 | -4.13e-01 | 0.0898 |
| 79002 | C19orf43 | GSM4909296 | Human | Breast | IDC | 5.35e-20 | -4.13e-01 | 0.1524 |
| 79002 | C19orf43 | GSM4909297 | Human | Breast | IDC | 1.82e-21 | -4.13e-01 | 0.1517 |
| 79002 | C19orf43 | GSM4909298 | Human | Breast | IDC | 9.92e-21 | -4.13e-01 | 0.1551 |
| 79002 | C19orf43 | GSM4909299 | Human | Breast | IDC | 6.58e-19 | -4.13e-01 | 0.035 |
| 79002 | C19orf43 | GSM4909300 | Human | Breast | IDC | 1.97e-09 | -4.13e-01 | 0.0334 |
| 79002 | C19orf43 | GSM4909301 | Human | Breast | IDC | 2.31e-20 | -4.13e-01 | 0.1577 |
| 79002 | C19orf43 | GSM4909302 | Human | Breast | IDC | 8.69e-23 | -4.13e-01 | 0.1545 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| 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 | ||
| 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 |
| ∗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 |
| C19orf43 | SNV | Missense_Mutation | c.442G>A | p.Asp148Asn | p.D148N | Q9BQ61 | protein_coding | deleterious(0.01) | probably_damaging(0.924) | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| C19orf43 | SNV | Missense_Mutation | c.466N>A | p.Glu156Lys | p.E156K | Q9BQ61 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| C19orf43 | SNV | Missense_Mutation | c.362G>A | p.Gly121Asp | p.G121D | Q9BQ61 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| C19orf43 | SNV | Missense_Mutation | c.463N>A | p.Ala155Thr | p.A155T | Q9BQ61 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-F4-6570-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| C19orf43 | SNV | Missense_Mutation | novel | c.445G>A | p.Ala149Thr | p.A149T | Q9BQ61 | protein_coding | deleterious(0.01) | benign(0.096) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
| C19orf43 | SNV | Missense_Mutation | c.505G>A | p.Asp169Asn | p.D169N | Q9BQ61 | protein_coding | tolerated(0.1) | possibly_damaging(0.58) | TCGA-AP-A0LF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| C19orf43 | SNV | Missense_Mutation | novel | c.397G>A | p.Ala133Thr | p.A133T | Q9BQ61 | protein_coding | deleterious(0.04) | benign(0.319) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| C19orf43 | SNV | Missense_Mutation | novel | c.474A>C | p.Lys158Asn | p.K158N | Q9BQ61 | protein_coding | tolerated(0.11) | possibly_damaging(0.662) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| C19orf43 | SNV | Missense_Mutation | c.505N>A | p.Asp169Asn | p.D169N | Q9BQ61 | protein_coding | tolerated(0.1) | possibly_damaging(0.58) | TCGA-E6-A1LZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD | |
| C19orf43 | SNV | Missense_Mutation | novel | c.436A>G | p.Lys146Glu | p.K146E | Q9BQ61 | protein_coding | tolerated(0.13) | probably_damaging(0.994) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 |
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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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