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Gene: C19orf53 |
Gene summary for C19ORF53 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | C19orf53 | Gene ID | 28974 |
| Gene name | chromosome 19 open reading frame 53 | |
| Gene Alias | HSPC023 | |
| Cytomap | 19p13.13 | |
| Gene Type | protein-coding | GO ID | NA | UniProtAcc | Q9UNZ5 |
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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 |
| 28974 | C19orf53 | GSM4909280 | Human | Breast | Precancer | 1.16e-03 | -4.89e-01 | 0.0305 |
| 28974 | C19orf53 | GSM4909282 | Human | Breast | IDC | 1.46e-24 | 5.03e-01 | -0.0288 |
| 28974 | C19orf53 | GSM4909285 | Human | Breast | IDC | 7.49e-43 | 6.36e-01 | 0.21 |
| 28974 | C19orf53 | GSM4909286 | Human | Breast | IDC | 2.52e-05 | -3.61e-02 | 0.1081 |
| 28974 | C19orf53 | GSM4909287 | Human | Breast | IDC | 6.49e-13 | 3.84e-01 | 0.2057 |
| 28974 | C19orf53 | GSM4909288 | Human | Breast | IDC | 8.52e-04 | -4.05e-01 | 0.0988 |
| 28974 | C19orf53 | GSM4909290 | Human | Breast | IDC | 7.20e-16 | 5.40e-01 | 0.2096 |
| 28974 | C19orf53 | GSM4909291 | Human | Breast | IDC | 7.48e-16 | 5.17e-01 | 0.1753 |
| 28974 | C19orf53 | GSM4909293 | Human | Breast | IDC | 2.34e-02 | 2.25e-01 | 0.1581 |
| 28974 | C19orf53 | GSM4909294 | Human | Breast | IDC | 8.08e-07 | -1.23e-01 | 0.2022 |
| 28974 | C19orf53 | GSM4909296 | Human | Breast | IDC | 1.20e-19 | 3.05e-02 | 0.1524 |
| 28974 | C19orf53 | GSM4909297 | Human | Breast | IDC | 1.24e-23 | -2.03e-01 | 0.1517 |
| 28974 | C19orf53 | GSM4909298 | Human | Breast | IDC | 7.18e-10 | 3.43e-01 | 0.1551 |
| 28974 | C19orf53 | GSM4909301 | Human | Breast | IDC | 2.91e-10 | 2.63e-01 | 0.1577 |
| 28974 | C19orf53 | GSM4909304 | Human | Breast | IDC | 7.25e-13 | 3.66e-01 | 0.1636 |
| 28974 | C19orf53 | GSM4909309 | Human | Breast | IDC | 2.64e-03 | -1.84e-01 | 0.0483 |
| 28974 | C19orf53 | GSM4909311 | Human | Breast | IDC | 5.86e-57 | -2.12e-01 | 0.1534 |
| 28974 | C19orf53 | GSM4909312 | Human | Breast | IDC | 2.73e-17 | -5.42e-02 | 0.1552 |
| 28974 | C19orf53 | GSM4909313 | Human | Breast | IDC | 4.94e-03 | -9.67e-02 | 0.0391 |
| 28974 | C19orf53 | GSM4909315 | Human | Breast | IDC | 6.07e-21 | 4.46e-01 | 0.21 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 |
| 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 | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| 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 | ||
| 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 |
| C19orf53 | SNV | Missense_Mutation | c.206N>G | p.Ala69Gly | p.A69G | Q9UNZ5 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-A2-A0SU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| C19orf53 | SNV | Missense_Mutation | novel | c.201G>A | p.Met67Ile | p.M67I | Q9UNZ5 | protein_coding | tolerated(0.11) | benign(0.012) | TCGA-ZJ-AAXT-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
| C19orf53 | SNV | Missense_Mutation | c.250G>A | p.Ala84Thr | p.A84T | Q9UNZ5 | protein_coding | tolerated(0.39) | benign(0.003) | TCGA-AA-3833-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| C19orf53 | SNV | Missense_Mutation | novel | c.4N>A | p.Ala2Thr | p.A2T | Q9UNZ5 | protein_coding | tolerated(0.14) | probably_damaging(0.999) | TCGA-A5-A2K7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
| C19orf53 | SNV | Missense_Mutation | rs746221045 | c.122C>T | p.Ala41Val | p.A41V | Q9UNZ5 | protein_coding | tolerated(0.1) | possibly_damaging(0.462) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| C19orf53 | insertion | Frame_Shift_Ins | novel | c.33_34insA | p.Pro13ThrfsTer5 | p.P13Tfs*5 | Q9UNZ5 | protein_coding | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| C19orf53 | SNV | Missense_Mutation | c.49A>G | p.Lys17Glu | p.K17E | Q9UNZ5 | protein_coding | deleterious(0.01) | benign(0.399) | TCGA-CG-5721-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
| Page: 1 |
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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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