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/TIMM17A_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/TIMM17A_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/TIMM17A_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/TIMM17A_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/TIMM17A_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/TIMM17A_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:007259420 | Esophagus | HGIN | establishment of protein localization to organelle | 120/2587 | 422/18723 | 1.73e-15 | 4.00e-13 | 120 |
GO:004586227 | Esophagus | HGIN | positive regulation of proteolysis | 107/2587 | 372/18723 | 2.61e-14 | 4.60e-12 | 107 |
GO:000683920 | Esophagus | HGIN | mitochondrial transport | 74/2587 | 254/18723 | 1.32e-10 | 1.32e-08 | 74 |
GO:007058520 | Esophagus | HGIN | protein localization to mitochondrion | 43/2587 | 125/18723 | 4.43e-09 | 3.03e-07 | 43 |
GO:007265520 | Esophagus | HGIN | establishment of protein localization to mitochondrion | 41/2587 | 120/18723 | 1.26e-08 | 7.96e-07 | 41 |
GO:000660525 | Esophagus | HGIN | protein targeting | 78/2587 | 314/18723 | 1.08e-07 | 5.47e-06 | 78 |
GO:000662620 | Esophagus | HGIN | protein targeting to mitochondrion | 33/2587 | 100/18723 | 7.99e-07 | 3.35e-05 | 33 |
GO:005160417 | Esophagus | HGIN | protein maturation | 68/2587 | 294/18723 | 9.77e-06 | 2.86e-04 | 68 |
GO:001703817 | Esophagus | HGIN | protein import | 51/2587 | 206/18723 | 1.79e-05 | 4.86e-04 | 51 |
GO:199054220 | Esophagus | HGIN | mitochondrial transmembrane transport | 29/2587 | 102/18723 | 8.52e-05 | 1.87e-03 | 29 |
GO:00164857 | Esophagus | HGIN | protein processing | 49/2587 | 225/18723 | 7.04e-04 | 9.52e-03 | 49 |
GO:19033173 | Esophagus | HGIN | regulation of protein maturation | 18/2587 | 67/18723 | 3.52e-03 | 3.24e-02 | 18 |
GO:00706133 | Esophagus | HGIN | regulation of protein processing | 17/2587 | 65/18723 | 6.04e-03 | 4.87e-02 | 17 |
GO:0072594110 | Esophagus | ESCC | establishment of protein localization to organelle | 311/8552 | 422/18723 | 3.02e-32 | 2.13e-29 | 311 |
GO:0006605111 | Esophagus | ESCC | protein targeting | 229/8552 | 314/18723 | 4.93e-23 | 1.01e-20 | 229 |
GO:0045862111 | Esophagus | ESCC | positive regulation of proteolysis | 256/8552 | 372/18723 | 7.88e-20 | 9.43e-18 | 256 |
GO:0006839110 | Esophagus | ESCC | mitochondrial transport | 187/8552 | 254/18723 | 8.35e-20 | 9.81e-18 | 187 |
GO:0072655110 | Esophagus | ESCC | establishment of protein localization to mitochondrion | 97/8552 | 120/18723 | 2.17e-15 | 1.33e-13 | 97 |
GO:0070585110 | Esophagus | ESCC | protein localization to mitochondrion | 100/8552 | 125/18723 | 2.96e-15 | 1.77e-13 | 100 |
GO:001703818 | Esophagus | ESCC | protein import | 149/8552 | 206/18723 | 5.90e-15 | 3.31e-13 | 149 |
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 |
TIMM17A | SNV | Missense_Mutation | rs750416279 | c.253G>A | p.Gly85Arg | p.G85R | Q99595 | protein_coding | tolerated(0.36) | benign(0.113) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TIMM17A | SNV | Missense_Mutation | | c.17N>C | p.Arg6Pro | p.R6P | Q99595 | protein_coding | deleterious(0.01) | possibly_damaging(0.747) | TCGA-BH-A18K-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
TIMM17A | SNV | Missense_Mutation | rs756338629 | c.112C>T | p.Arg38Cys | p.R38C | Q99595 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TIMM17A | SNV | Missense_Mutation | | c.119N>A | p.Ser40Tyr | p.S40Y | Q99595 | protein_coding | deleterious(0) | possibly_damaging(0.815) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TIMM17A | SNV | Missense_Mutation | | c.98N>T | p.Ala33Val | p.A33V | Q99595 | protein_coding | tolerated(0.48) | possibly_damaging(0.744) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
TIMM17A | SNV | Missense_Mutation | rs202092277 | c.386N>T | p.Ala129Val | p.A129V | Q99595 | protein_coding | tolerated(1) | benign(0.017) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIMM17A | SNV | Missense_Mutation | novel | c.140G>T | p.Arg47Ile | p.R47I | Q99595 | protein_coding | deleterious(0.01) | probably_damaging(0.987) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
TIMM17A | SNV | Missense_Mutation | novel | c.209N>A | p.Gly70Glu | p.G70E | Q99595 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-B5-A0JU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIMM17A | SNV | Missense_Mutation | rs756338629 | c.112N>T | p.Arg38Cys | p.R38C | Q99595 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
TIMM17A | SNV | Missense_Mutation | rs757756350 | c.88N>G | p.Ile30Val | p.I30V | Q99595 | protein_coding | tolerated(0.78) | benign(0.026) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |