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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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 |
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:200125218 | Esophagus | HGIN | positive regulation of chromosome organization | 30/2587 | 82/18723 | 2.00e-07 | 9.68e-06 | 30 |
GO:00330449 | Esophagus | HGIN | regulation of chromosome organization | 51/2587 | 187/18723 | 8.91e-07 | 3.61e-05 | 51 |
GO:001063920 | Esophagus | HGIN | negative regulation of organelle organization | 79/2587 | 348/18723 | 4.12e-06 | 1.37e-04 | 79 |
GO:000072318 | Esophagus | HGIN | telomere maintenance | 38/2587 | 131/18723 | 4.38e-06 | 1.42e-04 | 38 |
GO:003220416 | Esophagus | HGIN | regulation of telomere maintenance | 27/2587 | 80/18723 | 4.83e-06 | 1.56e-04 | 27 |
GO:000020916 | Esophagus | HGIN | protein polyubiquitination | 58/2587 | 236/18723 | 6.29e-06 | 1.97e-04 | 58 |
GO:003220617 | Esophagus | HGIN | positive regulation of telomere maintenance | 20/2587 | 52/18723 | 8.82e-06 | 2.64e-04 | 20 |
GO:005105214 | Esophagus | HGIN | regulation of DNA metabolic process | 79/2587 | 359/18723 | 1.38e-05 | 3.85e-04 | 79 |
GO:007189710 | Esophagus | HGIN | DNA biosynthetic process | 44/2587 | 180/18723 | 8.97e-05 | 1.96e-03 | 44 |
GO:005105416 | Esophagus | HGIN | positive regulation of DNA metabolic process | 47/2587 | 201/18723 | 1.65e-04 | 3.21e-03 | 47 |
GO:00701987 | Esophagus | HGIN | protein localization to chromosome, telomeric region | 12/2587 | 29/18723 | 2.48e-04 | 4.38e-03 | 12 |
GO:000700417 | Esophagus | HGIN | telomere maintenance via telomerase | 21/2587 | 69/18723 | 2.80e-04 | 4.80e-03 | 21 |
GO:00322007 | Esophagus | HGIN | telomere organization | 38/2587 | 159/18723 | 4.23e-04 | 6.39e-03 | 38 |
GO:200027819 | Esophagus | HGIN | regulation of DNA biosynthetic process | 28/2587 | 106/18723 | 4.30e-04 | 6.47e-03 | 28 |
GO:001083318 | Esophagus | HGIN | telomere maintenance via telomere lengthening | 23/2587 | 81/18723 | 4.52e-04 | 6.62e-03 | 23 |
GO:000627810 | Esophagus | HGIN | RNA-dependent DNA biosynthetic process | 21/2587 | 75/18723 | 9.58e-04 | 1.21e-02 | 21 |
GO:00345024 | Esophagus | HGIN | protein localization to chromosome | 24/2587 | 92/18723 | 1.29e-03 | 1.54e-02 | 24 |
GO:003011116 | Esophagus | HGIN | regulation of Wnt signaling pathway | 65/2587 | 328/18723 | 1.53e-03 | 1.77e-02 | 65 |
GO:009026310 | Esophagus | HGIN | positive regulation of canonical Wnt signaling pathway | 26/2587 | 106/18723 | 2.17e-03 | 2.25e-02 | 26 |
GO:001605516 | Esophagus | HGIN | Wnt signaling pathway | 83/2587 | 444/18723 | 2.27e-03 | 2.33e-02 | 83 |
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 |
TNKS2 | SNV | Missense_Mutation | novel | c.2611G>T | p.Val871Phe | p.V871F | Q9H2K2 | protein_coding | tolerated(0.44) | benign(0.003) | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
TNKS2 | SNV | Missense_Mutation | novel | c.536N>T | p.Asp179Val | p.D179V | Q9H2K2 | protein_coding | deleterious(0) | probably_damaging(0.939) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TNKS2 | SNV | Missense_Mutation | novel | c.1169N>A | p.Gly390Glu | p.G390E | Q9H2K2 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A8-A08P-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
TNKS2 | SNV | Missense_Mutation | | c.2342N>T | p.Pro781Leu | p.P781L | Q9H2K2 | protein_coding | deleterious(0) | possibly_damaging(0.687) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TNKS2 | SNV | Missense_Mutation | novel | c.3187N>A | p.Glu1063Lys | p.E1063K | Q9H2K2 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
TNKS2 | SNV | Missense_Mutation | novel | c.2855N>T | p.Gly952Val | p.G952V | Q9H2K2 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-BH-A0H5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
TNKS2 | SNV | Missense_Mutation | rs758437700 | c.2251G>A | p.Glu751Lys | p.E751K | Q9H2K2 | protein_coding | tolerated(0.06) | probably_damaging(1) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TNKS2 | SNV | Missense_Mutation | | c.1225N>C | p.Glu409Gln | p.E409Q | Q9H2K2 | protein_coding | tolerated(0.11) | benign(0.038) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
TNKS2 | SNV | Missense_Mutation | | c.265G>A | p.Asp89Asn | p.D89N | Q9H2K2 | protein_coding | tolerated(0.14) | probably_damaging(0.992) | TCGA-E2-A159-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
TNKS2 | insertion | Frame_Shift_Ins | novel | c.1377_1378insATGGAAGAATTGGGTTTCAGCTTATTAAGGATCTCAA | p.Asn460MetfsTer28 | p.N460Mfs*28 | Q9H2K2 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |