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Gene: C19orf43 |
Gene summary for C19ORF43 |
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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 |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
79002 | C19orf43 | GSM4909303 | Human | Breast | IDC | 2.64e-06 | -4.13e-01 | 0.0438 |
79002 | C19orf43 | GSM4909304 | Human | Breast | IDC | 9.92e-21 | -4.13e-01 | 0.1636 |
79002 | C19orf43 | GSM4909305 | Human | Breast | IDC | 4.46e-16 | -4.13e-01 | 0.0436 |
79002 | C19orf43 | GSM4909306 | Human | Breast | IDC | 2.31e-20 | -4.13e-01 | 0.1564 |
79002 | C19orf43 | GSM4909307 | Human | Breast | IDC | 1.24e-19 | -4.13e-01 | 0.1569 |
79002 | C19orf43 | GSM4909308 | Human | Breast | IDC | 2.43e-20 | -4.13e-01 | 0.158 |
79002 | C19orf43 | GSM4909309 | Human | Breast | IDC | 2.07e-20 | -4.13e-01 | 0.0483 |
79002 | C19orf43 | GSM4909311 | Human | Breast | IDC | 1.24e-19 | -4.13e-01 | 0.1534 |
79002 | C19orf43 | GSM4909312 | Human | Breast | IDC | 5.35e-20 | -4.13e-01 | 0.1552 |
79002 | C19orf43 | GSM4909313 | Human | Breast | IDC | 4.66e-20 | -4.13e-01 | 0.0391 |
79002 | C19orf43 | GSM4909315 | Human | Breast | IDC | 1.82e-21 | -4.13e-01 | 0.21 |
79002 | C19orf43 | GSM4909316 | Human | Breast | IDC | 1.63e-06 | -4.13e-01 | 0.21 |
79002 | C19orf43 | GSM4909317 | Human | Breast | IDC | 7.62e-20 | -4.13e-01 | 0.1355 |
79002 | C19orf43 | GSM4909318 | Human | Breast | IDC | 7.47e-03 | -4.13e-01 | 0.2031 |
79002 | C19orf43 | GSM4909319 | Human | Breast | IDC | 5.35e-20 | -4.13e-01 | 0.1563 |
79002 | C19orf43 | GSM4909320 | Human | Breast | IDC | 1.19e-07 | -4.13e-01 | 0.1575 |
79002 | C19orf43 | GSM4909321 | Human | Breast | IDC | 2.31e-20 | -4.13e-01 | 0.1559 |
79002 | C19orf43 | ctrl6 | Human | Breast | Precancer | 1.57e-09 | -4.13e-01 | -0.0061 |
79002 | C19orf43 | brca1 | Human | Breast | Precancer | 5.38e-55 | 8.29e-01 | -0.0338 |
79002 | C19orf43 | brca2 | Human | Breast | Precancer | 7.42e-30 | 6.18e-01 | -0.024 |
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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 |
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 |
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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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