Tissue | Expression Dynamics | Abbreviation |
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 |
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 |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006839 | Colorectum | AD | mitochondrial transport | 102/3918 | 254/18723 | 1.87e-12 | 3.08e-10 | 102 |
GO:0072594 | Colorectum | AD | establishment of protein localization to organelle | 148/3918 | 422/18723 | 7.95e-12 | 1.04e-09 | 148 |
GO:1990542 | Colorectum | AD | mitochondrial transmembrane transport | 47/3918 | 102/18723 | 1.09e-08 | 6.52e-07 | 47 |
GO:0006605 | Colorectum | AD | protein targeting | 105/3918 | 314/18723 | 1.39e-07 | 6.44e-06 | 105 |
GO:0070585 | Colorectum | AD | protein localization to mitochondrion | 51/3918 | 125/18723 | 3.40e-07 | 1.33e-05 | 51 |
GO:0072655 | Colorectum | AD | establishment of protein localization to mitochondrion | 47/3918 | 120/18723 | 3.76e-06 | 1.04e-04 | 47 |
GO:0017038 | Colorectum | AD | protein import | 67/3918 | 206/18723 | 6.34e-05 | 1.05e-03 | 67 |
GO:0006626 | Colorectum | AD | protein targeting to mitochondrion | 37/3918 | 100/18723 | 1.58e-04 | 2.20e-03 | 37 |
GO:0071806 | Colorectum | AD | protein transmembrane transport | 21/3918 | 59/18723 | 6.58e-03 | 4.08e-02 | 21 |
GO:00068391 | Colorectum | SER | mitochondrial transport | 87/2897 | 254/18723 | 7.91e-14 | 3.03e-11 | 87 |
GO:19905421 | Colorectum | SER | mitochondrial transmembrane transport | 42/2897 | 102/18723 | 3.65e-10 | 4.77e-08 | 42 |
GO:00725941 | Colorectum | SER | establishment of protein localization to organelle | 111/2897 | 422/18723 | 4.98e-09 | 4.49e-07 | 111 |
GO:00705851 | Colorectum | SER | protein localization to mitochondrion | 42/2897 | 125/18723 | 3.75e-07 | 1.98e-05 | 42 |
GO:00726551 | Colorectum | SER | establishment of protein localization to mitochondrion | 38/2897 | 120/18723 | 6.60e-06 | 2.33e-04 | 38 |
GO:00066051 | Colorectum | SER | protein targeting | 76/2897 | 314/18723 | 3.19e-05 | 8.47e-04 | 76 |
GO:00066261 | Colorectum | SER | protein targeting to mitochondrion | 31/2897 | 100/18723 | 7.09e-05 | 1.61e-03 | 31 |
GO:00170381 | Colorectum | SER | protein import | 49/2897 | 206/18723 | 1.12e-03 | 1.29e-02 | 49 |
GO:00718061 | Colorectum | SER | protein transmembrane transport | 17/2897 | 59/18723 | 6.64e-03 | 4.69e-02 | 17 |
GO:00725942 | Colorectum | MSS | establishment of protein localization to organelle | 139/3467 | 422/18723 | 5.75e-13 | 1.12e-10 | 139 |
GO:00068392 | Colorectum | MSS | mitochondrial transport | 93/3467 | 254/18723 | 6.14e-12 | 9.82e-10 | 93 |
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 |
TIMM17B | SNV | Missense_Mutation | | c.542N>C | p.Ile181Thr | p.I181T | O60830 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-A2-A0T0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
TIMM17B | insertion | Frame_Shift_Ins | novel | c.225_226insTGTAAACATTTGTCAACTCCCCATAAAGATGAAGGGAATGTTG | p.Thr76CysfsTer40 | p.T76Cfs*40 | O60830 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIMM17B | insertion | In_Frame_Ins | novel | c.89_97dupTCTTCCAGG | p.Val30_Gln32dup | p.V30_Q32dup | O60830 | protein_coding | | | TCGA-UL-AAZ6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | herceptin | SD |
TIMM17B | SNV | Missense_Mutation | | c.466N>T | p.Arg156Cys | p.R156C | O60830 | protein_coding | deleterious(0.02) | benign(0.233) | TCGA-CM-6162-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
TIMM17B | SNV | Missense_Mutation | novel | c.13G>A | p.Ala5Thr | p.A5T | O60830 | protein_coding | tolerated(0.39) | possibly_damaging(0.578) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TIMM17B | SNV | Missense_Mutation | novel | c.112N>T | p.Arg38Cys | p.R38C | O60830 | protein_coding | deleterious(0) | benign(0.104) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TIMM17B | SNV | Missense_Mutation | novel | c.58G>A | p.Ala20Thr | p.A20T | O60830 | protein_coding | deleterious(0) | probably_damaging(0.947) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIMM17B | SNV | Missense_Mutation | novel | c.586C>A | p.Pro196Thr | p.P196T | O60830 | protein_coding | tolerated(0.06) | possibly_damaging(0.844) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIMM17B | SNV | Missense_Mutation | novel | c.113N>A | p.Arg38His | p.R38H | O60830 | protein_coding | deleterious(0.01) | benign(0.33) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIMM17B | SNV | Missense_Mutation | novel | c.400N>T | p.Arg134Trp | p.R134W | O60830 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |