Tissue | Expression Dynamics | Abbreviation |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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 |
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:009723710 | Endometrium | AEH | cellular response to toxic substance | 34/2100 | 124/18723 | 5.02e-07 | 1.97e-05 | 34 |
GO:000963610 | Endometrium | AEH | response to toxic substance | 52/2100 | 262/18723 | 2.89e-05 | 5.40e-04 | 52 |
GO:009723715 | Endometrium | EEC | cellular response to toxic substance | 35/2168 | 124/18723 | 3.44e-07 | 1.37e-05 | 35 |
GO:000963615 | Endometrium | EEC | response to toxic substance | 54/2168 | 262/18723 | 1.65e-05 | 3.18e-04 | 54 |
GO:00096367 | Liver | NAFLD | response to toxic substance | 41/1882 | 262/18723 | 2.83e-03 | 2.57e-02 | 41 |
GO:000963612 | Liver | Cirrhotic | response to toxic substance | 104/4634 | 262/18723 | 5.63e-08 | 1.74e-06 | 104 |
GO:00972377 | Liver | Cirrhotic | cellular response to toxic substance | 50/4634 | 124/18723 | 9.20e-05 | 9.79e-04 | 50 |
GO:000963622 | Liver | HCC | response to toxic substance | 153/7958 | 262/18723 | 1.37e-07 | 2.58e-06 | 153 |
GO:009723712 | Liver | HCC | cellular response to toxic substance | 74/7958 | 124/18723 | 8.36e-05 | 7.36e-04 | 74 |
GO:000963616 | Prostate | BPH | response to toxic substance | 67/3107 | 262/18723 | 1.32e-04 | 1.18e-03 | 67 |
GO:009723716 | Prostate | BPH | cellular response to toxic substance | 37/3107 | 124/18723 | 1.70e-04 | 1.46e-03 | 37 |
GO:000963626 | Skin | AK | response to toxic substance | 42/1910 | 262/18723 | 2.11e-03 | 1.40e-02 | 42 |
GO:009723726 | Skin | AK | cellular response to toxic substance | 22/1910 | 124/18723 | 6.97e-03 | 3.63e-02 | 22 |
GO:0097237111 | Skin | cSCC | cellular response to toxic substance | 45/4864 | 124/18723 | 7.08e-03 | 3.40e-02 | 45 |
GO:0009636110 | Skin | cSCC | response to toxic substance | 86/4864 | 262/18723 | 7.66e-03 | 3.57e-02 | 86 |
GO:00096366 | Stomach | GC | response to toxic substance | 50/1159 | 262/18723 | 7.42e-13 | 2.69e-10 | 50 |
GO:00972376 | Stomach | GC | cellular response to toxic substance | 31/1159 | 124/18723 | 1.40e-11 | 3.31e-09 | 31 |
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 |
ABTB2 | SNV | Missense_Mutation | novel | c.302N>C | p.Glu101Ala | p.E101A | Q8N961 | protein_coding | tolerated(0.45) | benign(0.035) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ABTB2 | SNV | Missense_Mutation | rs756849874 | c.2377G>A | p.Asp793Asn | p.D793N | Q8N961 | protein_coding | tolerated(1) | benign(0.003) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ABTB2 | SNV | Missense_Mutation | novel | c.820N>A | p.Asp274Asn | p.D274N | Q8N961 | protein_coding | tolerated(0.25) | probably_damaging(0.976) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABTB2 | SNV | Missense_Mutation | rs776143668 | c.3043N>T | p.Arg1015Cys | p.R1015C | Q8N961 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABTB2 | SNV | Missense_Mutation | rs764914019 | c.3019N>A | p.Asp1007Asn | p.D1007N | Q8N961 | protein_coding | tolerated(0.07) | possibly_damaging(0.529) | TCGA-E9-A1RA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ABTB2 | deletion | Frame_Shift_Del | novel | c.1951delN | p.Met651Ter | p.M651* | Q8N961 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ABTB2 | deletion | Frame_Shift_Del | novel | c.2532delG | p.Met844IlefsTer4 | p.M844Ifs*4 | Q8N961 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
ABTB2 | SNV | Missense_Mutation | novel | c.218C>A | p.Thr73Lys | p.T73K | Q8N961 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-C5-A8XI-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |
ABTB2 | SNV | Missense_Mutation | | c.1603N>A | p.Glu535Lys | p.E535K | Q8N961 | protein_coding | deleterious(0.01) | probably_damaging(0.985) | TCGA-EK-A2RO-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ABTB2 | SNV | Missense_Mutation | | c.813N>G | p.Ile271Met | p.I271M | Q8N961 | protein_coding | deleterious(0) | possibly_damaging(0.757) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |