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:004217627 | Esophagus | HGIN | regulation of protein catabolic process | 119/2587 | 391/18723 | 8.09e-18 | 2.43e-15 | 119 |
GO:007259420 | Esophagus | HGIN | establishment of protein localization to organelle | 120/2587 | 422/18723 | 1.73e-15 | 4.00e-13 | 120 |
GO:001623616 | Esophagus | HGIN | macroautophagy | 77/2587 | 291/18723 | 7.15e-09 | 4.61e-07 | 77 |
GO:000660525 | Esophagus | HGIN | protein targeting | 78/2587 | 314/18723 | 1.08e-07 | 5.47e-06 | 78 |
GO:001619710 | Esophagus | HGIN | endosomal transport | 57/2587 | 230/18723 | 5.74e-06 | 1.81e-04 | 57 |
GO:00070328 | Esophagus | HGIN | endosome organization | 25/2587 | 82/18723 | 7.45e-05 | 1.69e-03 | 25 |
GO:00362586 | Esophagus | HGIN | multivesicular body assembly | 13/2587 | 30/18723 | 7.76e-05 | 1.74e-03 | 13 |
GO:00362577 | Esophagus | HGIN | multivesicular body organization | 13/2587 | 31/18723 | 1.17e-04 | 2.43e-03 | 13 |
GO:00160509 | Esophagus | HGIN | vesicle organization | 65/2587 | 300/18723 | 1.24e-04 | 2.54e-03 | 65 |
GO:000703416 | Esophagus | HGIN | vacuolar transport | 35/2587 | 157/18723 | 2.52e-03 | 2.51e-02 | 35 |
GO:0072594110 | Esophagus | ESCC | establishment of protein localization to organelle | 311/8552 | 422/18723 | 3.02e-32 | 2.13e-29 | 311 |
GO:0042176111 | Esophagus | ESCC | regulation of protein catabolic process | 280/8552 | 391/18723 | 8.65e-26 | 2.39e-23 | 280 |
GO:001623617 | Esophagus | ESCC | macroautophagy | 216/8552 | 291/18723 | 1.94e-23 | 4.57e-21 | 216 |
GO:0006605111 | Esophagus | ESCC | protein targeting | 229/8552 | 314/18723 | 4.93e-23 | 1.01e-20 | 229 |
GO:001605014 | Esophagus | ESCC | vesicle organization | 211/8552 | 300/18723 | 2.85e-18 | 2.87e-16 | 211 |
GO:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
GO:000703417 | Esophagus | ESCC | vacuolar transport | 119/8552 | 157/18723 | 1.16e-14 | 6.30e-13 | 119 |
GO:007190016 | Esophagus | ESCC | regulation of protein serine/threonine kinase activity | 227/8552 | 359/18723 | 1.12e-11 | 4.10e-10 | 227 |
GO:003625714 | Esophagus | ESCC | multivesicular body organization | 30/8552 | 31/18723 | 1.04e-09 | 2.50e-08 | 30 |
GO:003625814 | Esophagus | ESCC | multivesicular body assembly | 29/8552 | 30/18723 | 2.21e-09 | 4.99e-08 | 29 |
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 |
HGS | SNV | Missense_Mutation | novel | c.1531N>T | p.Ala511Ser | p.A511S | O14964 | protein_coding | deleterious(0.03) | probably_damaging(0.968) | TCGA-A2-A0YE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Taxotere | SD |
HGS | SNV | Missense_Mutation | rs761223362 | c.890N>T | p.Ser297Leu | p.S297L | O14964 | protein_coding | tolerated(0.31) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
HGS | SNV | Missense_Mutation | | c.1604N>A | p.Arg535His | p.R535H | O14964 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-B6-A0RL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HGS | SNV | Missense_Mutation | | c.181N>T | p.Ala61Ser | p.A61S | O14964 | protein_coding | tolerated(0.06) | possibly_damaging(0.844) | TCGA-C8-A137-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
HGS | SNV | Missense_Mutation | | c.958N>A | p.Glu320Lys | p.E320K | O14964 | protein_coding | tolerated(0.09) | possibly_damaging(0.459) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
HGS | SNV | Missense_Mutation | rs570671002 | c.1034N>A | p.Ser345Asn | p.S345N | O14964 | protein_coding | tolerated(0.08) | possibly_damaging(0.706) | TCGA-D8-A27K-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin+cyclophosphamid | SD |
HGS | insertion | Frame_Shift_Ins | novel | c.1441_1442insG | p.Ala483GlyfsTer146 | p.A483Gfs*146 | O14964 | protein_coding | | | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HGS | SNV | Missense_Mutation | novel | c.310N>A | p.Val104Ile | p.V104I | O14964 | protein_coding | deleterious(0.03) | probably_damaging(0.997) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HGS | SNV | Missense_Mutation | novel | c.1628N>A | p.Arg543Gln | p.R543Q | O14964 | protein_coding | tolerated(0.21) | possibly_damaging(0.791) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HGS | SNV | Missense_Mutation | novel | c.1576N>A | p.Glu526Lys | p.E526K | O14964 | protein_coding | deleterious(0.03) | benign(0.343) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |