Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001081116 | Endometrium | AEH | positive regulation of cell-substrate adhesion | 38/2100 | 123/18723 | 3.08e-09 | 2.26e-07 | 38 |
GO:200005816 | Endometrium | AEH | regulation of ubiquitin-dependent protein catabolic process | 45/2100 | 164/18723 | 7.49e-09 | 5.22e-07 | 45 |
GO:004573216 | Endometrium | AEH | positive regulation of protein catabolic process | 56/2100 | 231/18723 | 1.60e-08 | 9.99e-07 | 56 |
GO:005109816 | Endometrium | AEH | regulation of binding | 77/2100 | 363/18723 | 2.21e-08 | 1.31e-06 | 77 |
GO:00301118 | Endometrium | AEH | regulation of Wnt signaling pathway | 71/2100 | 328/18723 | 3.31e-08 | 1.87e-06 | 71 |
GO:00019529 | Endometrium | AEH | regulation of cell-matrix adhesion | 37/2100 | 128/18723 | 3.58e-08 | 1.99e-06 | 37 |
GO:00160499 | Endometrium | AEH | cell growth | 93/2100 | 482/18723 | 1.00e-07 | 4.99e-06 | 93 |
GO:003253510 | Endometrium | AEH | regulation of cellular component size | 78/2100 | 383/18723 | 1.10e-07 | 5.29e-06 | 78 |
GO:00071609 | Endometrium | AEH | cell-matrix adhesion | 54/2100 | 233/18723 | 1.42e-07 | 6.37e-06 | 54 |
GO:190336416 | Endometrium | AEH | positive regulation of cellular protein catabolic process | 40/2100 | 155/18723 | 3.03e-07 | 1.31e-05 | 40 |
GO:00605607 | Endometrium | AEH | developmental growth involved in morphogenesis | 53/2100 | 234/18723 | 4.02e-07 | 1.67e-05 | 53 |
GO:00160558 | Endometrium | AEH | Wnt signaling pathway | 85/2100 | 444/18723 | 4.99e-07 | 1.97e-05 | 85 |
GO:00074098 | Endometrium | AEH | axonogenesis | 81/2100 | 418/18723 | 5.54e-07 | 2.12e-05 | 81 |
GO:01987388 | Endometrium | AEH | cell-cell signaling by wnt | 85/2100 | 446/18723 | 6.07e-07 | 2.29e-05 | 85 |
GO:00615648 | Endometrium | AEH | axon development | 88/2100 | 467/18723 | 6.39e-07 | 2.38e-05 | 88 |
GO:00486757 | Endometrium | AEH | axon extension | 31/2100 | 120/18723 | 6.13e-06 | 1.50e-04 | 31 |
GO:00301777 | Endometrium | AEH | positive regulation of Wnt signaling pathway | 34/2100 | 140/18723 | 9.62e-06 | 2.23e-04 | 34 |
GO:00015589 | Endometrium | AEH | regulation of cell growth | 75/2100 | 414/18723 | 1.79e-05 | 3.65e-04 | 75 |
GO:19030529 | Endometrium | AEH | positive regulation of proteolysis involved in cellular protein catabolic process | 32/2100 | 133/18723 | 2.12e-05 | 4.15e-04 | 32 |
GO:00485887 | Endometrium | AEH | developmental cell growth | 48/2100 | 234/18723 | 2.39e-05 | 4.53e-04 | 48 |
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 |
DISC1 | SNV | Missense_Mutation | | c.613G>T | p.Ala205Ser | p.A205S | Q9NRI5 | protein_coding | tolerated(0.69) | benign(0.055) | TCGA-A7-A26G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
DISC1 | SNV | Missense_Mutation | | c.2300N>C | p.Gln767Pro | p.Q767P | | protein_coding | tolerated(0.29) | probably_damaging(0.935) | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
DISC1 | SNV | Missense_Mutation | | c.878C>G | p.Ser293Cys | p.S293C | Q9NRI5 | protein_coding | deleterious(0.04) | probably_damaging(0.964) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
DISC1 | SNV | Missense_Mutation | novel | c.1698N>C | p.Met566Ile | p.M566I | Q9NRI5 | protein_coding | tolerated(0.24) | benign(0.137) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
DISC1 | insertion | In_Frame_Ins | novel | c.981_982insGACCCGCGATGTCTCTCTCAGCCCTTCAGTCTCTTGGCT | p.Asp327_Thr328insAspProArgCysLeuSerGlnProPheSerLeuLeuAla | p.D327_T328insDPRCLSQPFSLLA | Q9NRI5 | protein_coding | | | TCGA-A8-A09E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
DISC1 | deletion | Frame_Shift_Del | novel | c.851delG | p.Ser284ThrfsTer59 | p.S284Tfs*59 | Q9NRI5 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
DISC1 | SNV | Missense_Mutation | | c.2002A>G | p.Thr668Ala | p.T668A | | protein_coding | tolerated(0.68) | benign(0.068) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
DISC1 | insertion | Frame_Shift_Ins | novel | c.1976_1977insA | p.Tyr660LeufsTer2 | p.Y660Lfs*2 | Q9NRI5 | protein_coding | | | TCGA-DS-A1OA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
DISC1 | insertion | Frame_Shift_Ins | novel | c.1978_1979insTTGAGATT | p.Tyr660PhefsTer57 | p.Y660Ffs*57 | Q9NRI5 | protein_coding | | | TCGA-DS-A1OA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
DISC1 | SNV | Missense_Mutation | | c.2339N>T | p.Ser780Ile | p.S780I | | protein_coding | deleterious(0.01) | possibly_damaging(0.839) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |