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 |
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 |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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: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 |
GO:000700619 | Esophagus | ESCC | mitochondrial membrane organization | 93/8552 | 116/18723 | 2.16e-14 | 1.11e-12 | 93 |
GO:0006626110 | Esophagus | ESCC | protein targeting to mitochondrion | 81/8552 | 100/18723 | 3.60e-13 | 1.67e-11 | 81 |
GO:0008637110 | Esophagus | ESCC | apoptotic mitochondrial changes | 83/8552 | 107/18723 | 1.43e-11 | 5.08e-10 | 83 |
GO:001631110 | Esophagus | ESCC | dephosphorylation | 251/8552 | 417/18723 | 1.26e-09 | 2.99e-08 | 251 |
GO:000647018 | Esophagus | ESCC | protein dephosphorylation | 177/8552 | 281/18723 | 3.13e-09 | 6.72e-08 | 177 |
GO:000183619 | Esophagus | ESCC | release of cytochrome c from mitochondria | 47/8552 | 59/18723 | 9.02e-08 | 1.51e-06 | 47 |
GO:00718069 | Esophagus | ESCC | protein transmembrane transport | 47/8552 | 59/18723 | 9.02e-08 | 1.51e-06 | 47 |
GO:1990542110 | Esophagus | ESCC | mitochondrial transmembrane transport | 72/8552 | 102/18723 | 2.94e-07 | 4.23e-06 | 72 |
GO:00650026 | Esophagus | ESCC | intracellular protein transmembrane transport | 40/8552 | 51/18723 | 1.76e-06 | 2.08e-05 | 40 |
GO:00447433 | Esophagus | ESCC | protein transmembrane import into intracellular organelle | 29/8552 | 36/18723 | 1.91e-05 | 1.67e-04 | 29 |
GO:00301503 | Esophagus | ESCC | protein import into mitochondrial matrix | 16/8552 | 20/18723 | 1.85e-03 | 8.40e-03 | 16 |
GO:007259412 | Liver | Cirrhotic | establishment of protein localization to organelle | 189/4634 | 422/18723 | 1.01e-19 | 2.45e-17 | 189 |
GO:00066057 | Liver | Cirrhotic | protein targeting | 148/4634 | 314/18723 | 3.86e-18 | 6.20e-16 | 148 |
GO:00068397 | Liver | Cirrhotic | mitochondrial transport | 112/4634 | 254/18723 | 1.03e-11 | 6.66e-10 | 112 |
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 |
TIMM50 | SNV | Missense_Mutation | novel | c.460C>T | p.Pro154Ser | p.P154S | Q3ZCQ8 | protein_coding | tolerated(0.55) | benign(0.005) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TIMM50 | SNV | Missense_Mutation | novel | c.818G>T | p.Arg273Met | p.R273M | Q3ZCQ8 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TIMM50 | SNV | Missense_Mutation | novel | c.1091G>A | p.Gly364Asp | p.G364D | Q3ZCQ8 | protein_coding | deleterious(0.01) | possibly_damaging(0.824) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TIMM50 | SNV | Missense_Mutation | | c.752N>G | p.Tyr251Cys | p.Y251C | Q3ZCQ8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AJ-A8CW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIMM50 | SNV | Missense_Mutation | rs199511949 | c.760N>A | p.Val254Ile | p.V254I | Q3ZCQ8 | protein_coding | deleterious(0.03) | possibly_damaging(0.66) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
TIMM50 | SNV | Missense_Mutation | | c.1178N>T | p.Gly393Val | p.G393V | Q3ZCQ8 | protein_coding | deleterious(0.04) | benign(0.419) | TCGA-B5-A0JN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | SD |
TIMM50 | SNV | Missense_Mutation | rs369195443 | c.1343N>A | p.Arg448His | p.R448H | Q3ZCQ8 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TIMM50 | SNV | Missense_Mutation | | c.1037N>A | p.Arg346Gln | p.R346Q | Q3ZCQ8 | protein_coding | deleterious(0.01) | possibly_damaging(0.895) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIMM50 | SNV | Missense_Mutation | novel | c.812N>A | p.Gly271Asp | p.G271D | Q3ZCQ8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EO-A22T-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIMM50 | SNV | Missense_Mutation | novel | c.596C>A | p.Ala199Asp | p.A199D | Q3ZCQ8 | protein_coding | tolerated(0.35) | benign(0.138) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |