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Gene: TMEM43 |
Gene summary for TMEM43 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | TMEM43 | Gene ID | 79188 |
| Gene name | transmembrane protein 43 | |
| Gene Alias | ARVC5 | |
| Cytomap | 3p25.1 | |
| Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | A0A024R2F9 |
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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 |
| 79188 | TMEM43 | LZE2T | Human | Esophagus | ESCC | 4.16e-08 | 2.47e-01 | 0.082 |
| 79188 | TMEM43 | LZE4T | Human | Esophagus | ESCC | 4.49e-08 | 6.77e-02 | 0.0811 |
| 79188 | TMEM43 | LZE5T | Human | Esophagus | ESCC | 6.56e-04 | -4.55e-02 | 0.0514 |
| 79188 | TMEM43 | LZE7T | Human | Esophagus | ESCC | 2.46e-09 | 1.47e-01 | 0.0667 |
| 79188 | TMEM43 | LZE8T | Human | Esophagus | ESCC | 2.69e-03 | 1.81e-02 | 0.067 |
| 79188 | TMEM43 | LZE20T | Human | Esophagus | ESCC | 8.66e-08 | 6.39e-02 | 0.0662 |
| 79188 | TMEM43 | LZE21D1 | Human | Esophagus | HGIN | 4.33e-02 | 9.46e-02 | 0.0632 |
| 79188 | TMEM43 | LZE22D1 | Human | Esophagus | HGIN | 2.02e-03 | -6.72e-02 | 0.0595 |
| 79188 | TMEM43 | LZE24T | Human | Esophagus | ESCC | 8.12e-09 | 1.94e-01 | 0.0596 |
| 79188 | TMEM43 | LZE21T | Human | Esophagus | ESCC | 2.19e-04 | 1.81e-01 | 0.0655 |
| 79188 | TMEM43 | LZE6T | Human | Esophagus | ESCC | 1.27e-02 | 1.70e-01 | 0.0845 |
| 79188 | TMEM43 | P1T-E | Human | Esophagus | ESCC | 2.09e-06 | 1.95e-01 | 0.0875 |
| 79188 | TMEM43 | P2T-E | Human | Esophagus | ESCC | 1.10e-16 | 2.39e-01 | 0.1177 |
| 79188 | TMEM43 | P4T-E | Human | Esophagus | ESCC | 8.94e-18 | 4.28e-01 | 0.1323 |
| 79188 | TMEM43 | P5T-E | Human | Esophagus | ESCC | 2.45e-24 | 6.17e-01 | 0.1327 |
| 79188 | TMEM43 | P8T-E | Human | Esophagus | ESCC | 1.64e-15 | 1.79e-01 | 0.0889 |
| 79188 | TMEM43 | P9T-E | Human | Esophagus | ESCC | 1.40e-27 | 2.06e-01 | 0.1131 |
| 79188 | TMEM43 | P10T-E | Human | Esophagus | ESCC | 9.62e-27 | 4.03e-01 | 0.116 |
| 79188 | TMEM43 | P11T-E | Human | Esophagus | ESCC | 1.15e-20 | 6.80e-01 | 0.1426 |
| 79188 | TMEM43 | P12T-E | Human | Esophagus | ESCC | 2.02e-32 | 6.42e-01 | 0.1122 |
| Page: 1 2 3 4 5 6 7 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 |
| GO:00069975 | Esophagus | HGIN | nucleus organization | 34/2587 | 133/18723 | 2.20e-04 | 4.00e-03 | 34 |
| GO:00717634 | Esophagus | HGIN | nuclear membrane organization | 12/2587 | 33/18723 | 9.97e-04 | 1.25e-02 | 12 |
| GO:00069983 | Esophagus | HGIN | nuclear envelope organization | 14/2587 | 47/18723 | 3.49e-03 | 3.23e-02 | 14 |
| GO:000699713 | Esophagus | ESCC | nucleus organization | 96/8552 | 133/18723 | 4.66e-10 | 1.21e-08 | 96 |
| GO:000699811 | Esophagus | ESCC | nuclear envelope organization | 39/8552 | 47/18723 | 1.48e-07 | 2.35e-06 | 39 |
| GO:007176312 | Esophagus | ESCC | nuclear membrane organization | 29/8552 | 33/18723 | 5.30e-07 | 7.04e-06 | 29 |
| GO:0006997 | Liver | Cirrhotic | nucleus organization | 48/4634 | 133/18723 | 2.27e-03 | 1.38e-02 | 48 |
| GO:0071763 | Liver | Cirrhotic | nuclear membrane organization | 15/4634 | 33/18723 | 7.61e-03 | 3.60e-02 | 15 |
| GO:00717631 | Liver | HCC | nuclear membrane organization | 27/7958 | 33/18723 | 4.31e-06 | 5.50e-05 | 27 |
| GO:00069971 | Liver | HCC | nucleus organization | 82/7958 | 133/18723 | 6.32e-06 | 7.72e-05 | 82 |
| GO:0006998 | Liver | HCC | nuclear envelope organization | 34/7958 | 47/18723 | 3.27e-05 | 3.29e-04 | 34 |
| GO:00069974 | Oral cavity | OSCC | nucleus organization | 85/7305 | 133/18723 | 5.12e-09 | 1.12e-07 | 85 |
| GO:00717633 | Oral cavity | OSCC | nuclear membrane organization | 29/7305 | 33/18723 | 8.40e-09 | 1.76e-07 | 29 |
| GO:00069982 | Oral cavity | OSCC | nuclear envelope organization | 37/7305 | 47/18723 | 3.19e-08 | 6.12e-07 | 37 |
| GO:007176311 | Oral cavity | LP | nuclear membrane organization | 18/4623 | 33/18723 | 2.26e-04 | 2.41e-03 | 18 |
| GO:00069981 | Oral cavity | LP | nuclear envelope organization | 23/4623 | 47/18723 | 2.74e-04 | 2.84e-03 | 23 |
| GO:000699712 | Oral cavity | LP | nucleus organization | 51/4623 | 133/18723 | 3.22e-04 | 3.26e-03 | 51 |
| GO:00069972 | Prostate | BPH | nucleus organization | 38/3107 | 133/18723 | 3.69e-04 | 2.72e-03 | 38 |
| GO:000699711 | Prostate | Tumor | nucleus organization | 38/3246 | 133/18723 | 8.78e-04 | 5.89e-03 | 38 |
| GO:00069976 | Skin | cSCC | nucleus organization | 62/4864 | 133/18723 | 2.21e-07 | 4.72e-06 | 62 |
| Page: 1 2 |
| 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 |
| TMEM43 | SNV | Missense_Mutation | novel | c.797N>T | p.Arg266Leu | p.R266L | Q9BTV4 | protein_coding | deleterious(0.04) | benign(0.212) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
| TMEM43 | insertion | Nonsense_Mutation | novel | c.1077_1078insGGTGCACATGGTGCCTAACACAGGCAACGTTCAGAA | p.Leu359_Thr360insGlyAlaHisGlyAlaTerHisArgGlnArgSerGlu | p.L359_T360insGAHGA*HRQRSE | Q9BTV4 | protein_coding | TCGA-B6-A0I5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| TMEM43 | SNV | Missense_Mutation | novel | c.179C>T | p.Thr60Met | p.T60M | Q9BTV4 | protein_coding | tolerated(0.07) | possibly_damaging(0.534) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| TMEM43 | SNV | Missense_Mutation | c.196G>A | p.Glu66Lys | p.E66K | Q9BTV4 | protein_coding | deleterious(0) | possibly_damaging(0.706) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| TMEM43 | SNV | Missense_Mutation | c.882N>T | p.Glu294Asp | p.E294D | Q9BTV4 | protein_coding | deleterious(0.02) | possibly_damaging(0.492) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| TMEM43 | SNV | Missense_Mutation | rs138764471 | c.223G>A | p.Asp75Asn | p.D75N | Q9BTV4 | protein_coding | tolerated(0.38) | benign(0) | TCGA-AG-3893-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folinic | CR |
| TMEM43 | SNV | Missense_Mutation | c.944N>C | p.Gly315Ala | p.G315A | Q9BTV4 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AG-A01Y-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
| TMEM43 | SNV | Missense_Mutation | c.692C>G | p.Pro231Arg | p.P231R | Q9BTV4 | protein_coding | deleterious(0) | possibly_damaging(0.905) | TCGA-AG-A026-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| TMEM43 | SNV | Missense_Mutation | rs553757132 | c.515N>T | p.Ala172Val | p.A172V | Q9BTV4 | protein_coding | tolerated(0.13) | possibly_damaging(0.674) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| TMEM43 | SNV | Missense_Mutation | novel | c.959N>C | p.Phe320Ser | p.F320S | Q9BTV4 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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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