Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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:00069139 | Cervix | CC | nucleocytoplasmic transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:00511699 | Cervix | CC | nuclear transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:19033119 | Cervix | CC | regulation of mRNA metabolic process | 64/2311 | 288/18723 | 1.71e-06 | 5.64e-05 | 64 |
GO:00468229 | Cervix | CC | regulation of nucleocytoplasmic transport | 31/2311 | 106/18723 | 2.68e-06 | 7.87e-05 | 31 |
GO:00323868 | Cervix | CC | regulation of intracellular transport | 71/2311 | 337/18723 | 3.70e-06 | 9.74e-05 | 71 |
GO:00511689 | Cervix | CC | nuclear export | 38/2311 | 154/18723 | 1.86e-05 | 3.46e-04 | 38 |
GO:00512368 | Cervix | CC | establishment of RNA localization | 39/2311 | 166/18723 | 4.76e-05 | 7.25e-04 | 39 |
GO:00506578 | Cervix | CC | nucleic acid transport | 38/2311 | 163/18723 | 7.06e-05 | 9.85e-04 | 38 |
GO:00506588 | Cervix | CC | RNA transport | 38/2311 | 163/18723 | 7.06e-05 | 9.85e-04 | 38 |
GO:00506849 | Cervix | CC | regulation of mRNA processing | 33/2311 | 137/18723 | 1.06e-04 | 1.35e-03 | 33 |
GO:00104525 | Cervix | CC | histone H3-K36 methylation | 8/2311 | 15/18723 | 1.53e-04 | 1.85e-03 | 8 |
GO:00165705 | Cervix | CC | histone modification | 84/2311 | 463/18723 | 1.70e-04 | 2.01e-03 | 84 |
GO:000640310 | Cervix | CC | RNA localization | 43/2311 | 201/18723 | 2.00e-04 | 2.29e-03 | 43 |
GO:00510284 | Cervix | CC | mRNA transport | 31/2311 | 130/18723 | 2.05e-04 | 2.33e-03 | 31 |
GO:00349685 | Cervix | CC | histone lysine methylation | 27/2311 | 115/18723 | 6.61e-04 | 6.09e-03 | 27 |
GO:00310565 | Cervix | CC | regulation of histone modification | 33/2311 | 152/18723 | 7.97e-04 | 7.00e-03 | 33 |
GO:000838010 | Cervix | CC | RNA splicing | 76/2311 | 434/18723 | 9.79e-04 | 8.19e-03 | 76 |
GO:00159318 | Cervix | CC | nucleobase-containing compound transport | 43/2311 | 222/18723 | 1.72e-03 | 1.30e-02 | 43 |
GO:00165715 | Cervix | CC | histone methylation | 30/2311 | 141/18723 | 1.88e-03 | 1.39e-02 | 30 |
GO:00180224 | Cervix | CC | peptidyl-lysine methylation | 28/2311 | 131/18723 | 2.43e-03 | 1.71e-02 | 28 |
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 |
IWS1 | SNV | Missense_Mutation | | c.1447G>A | p.Glu483Lys | p.E483K | Q96ST2 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-E2-A14P-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Targeted Molecular therapy | trastuzumab | SD |
IWS1 | insertion | In_Frame_Ins | novel | c.1954_1955insATATACTTTCTTTCATGGTCATTGTAGCAGCTA | p.Leu652delinsHisIleLeuSerPheMetValIleValAlaAlaMet | p.L652delinsHILSFMVIVAAM | Q96ST2 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
IWS1 | SNV | Missense_Mutation | | c.1900C>T | p.Arg634Trp | p.R634W | Q96ST2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
IWS1 | SNV | Missense_Mutation | | c.1189N>T | p.Leu397Phe | p.L397F | Q96ST2 | protein_coding | deleterious(0.04) | probably_damaging(0.998) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
IWS1 | SNV | Missense_Mutation | novel | c.2072G>A | p.Gly691Asp | p.G691D | Q96ST2 | protein_coding | deleterious(0.02) | probably_damaging(0.972) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
IWS1 | SNV | Missense_Mutation | rs768095036 | c.247N>A | p.Glu83Lys | p.E83K | Q96ST2 | protein_coding | tolerated_low_confidence(0.11) | possibly_damaging(0.664) | TCGA-EA-A3QD-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
IWS1 | SNV | Missense_Mutation | | c.2389G>A | p.Asp797Asn | p.D797N | Q96ST2 | protein_coding | deleterious(0.03) | benign(0.101) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
IWS1 | SNV | Missense_Mutation | | c.476N>A | p.Ser159Tyr | p.S159Y | Q96ST2 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.98) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
IWS1 | insertion | Frame_Shift_Ins | novel | c.2069_2070insCCTAA | p.Gly691LeufsTer11 | p.G691Lfs*11 | Q96ST2 | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
IWS1 | SNV | Missense_Mutation | | c.1691N>A | p.Ile564Asn | p.I564N | Q96ST2 | protein_coding | deleterious(0) | probably_damaging(0.929) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |