Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Esophagus/TMEM43_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Liver/TMEM43_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/OralCavity/TMEM43_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Prostate/TMEM43_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Skin/TMEM43_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Thyroid/TMEM43_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
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 |
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 |