GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:0048732111 | Esophagus | ESCC | gland development | 269/8552 | 436/18723 | 7.81e-12 | 2.95e-10 | 269 |
GO:0051099111 | Esophagus | ESCC | positive regulation of binding | 122/8552 | 173/18723 | 2.79e-11 | 9.45e-10 | 122 |
GO:0051101111 | Esophagus | ESCC | regulation of DNA binding | 84/8552 | 118/18723 | 1.64e-08 | 3.21e-07 | 84 |
GO:0051100111 | Esophagus | ESCC | negative regulation of binding | 109/8552 | 162/18723 | 2.10e-08 | 4.03e-07 | 109 |
GO:003109818 | Esophagus | ESCC | stress-activated protein kinase signaling cascade | 154/8552 | 247/18723 | 8.53e-08 | 1.44e-06 | 154 |
GO:00510908 | Esophagus | ESCC | regulation of DNA-binding transcription factor activity | 252/8552 | 440/18723 | 5.22e-07 | 6.97e-06 | 252 |
GO:005140318 | Esophagus | ESCC | stress-activated MAPK cascade | 147/8552 | 239/18723 | 5.43e-07 | 7.18e-06 | 147 |
GO:000164918 | Esophagus | ESCC | osteoblast differentiation | 140/8552 | 229/18723 | 1.63e-06 | 1.95e-05 | 140 |
GO:000150317 | Esophagus | ESCC | ossification | 232/8552 | 408/18723 | 3.00e-06 | 3.40e-05 | 232 |
GO:006056210 | Esophagus | ESCC | epithelial tube morphogenesis | 187/8552 | 325/18723 | 9.95e-06 | 9.44e-05 | 187 |
GO:007030217 | Esophagus | ESCC | regulation of stress-activated protein kinase signaling cascade | 119/8552 | 195/18723 | 1.07e-05 | 1.01e-04 | 119 |
GO:003287217 | Esophagus | ESCC | regulation of stress-activated MAPK cascade | 116/8552 | 192/18723 | 2.63e-05 | 2.21e-04 | 116 |
GO:00488638 | Esophagus | ESCC | stem cell differentiation | 122/8552 | 206/18723 | 5.95e-05 | 4.59e-04 | 122 |
GO:00485386 | Esophagus | ESCC | thymus development | 33/8552 | 45/18723 | 1.54e-04 | 1.02e-03 | 33 |
GO:00433924 | Esophagus | ESCC | negative regulation of DNA binding | 37/8552 | 52/18723 | 1.75e-04 | 1.14e-03 | 37 |
GO:00487628 | Esophagus | ESCC | mesenchymal cell differentiation | 133/8552 | 236/18723 | 5.94e-04 | 3.22e-03 | 133 |
GO:004338819 | Esophagus | ESCC | positive regulation of DNA binding | 38/8552 | 56/18723 | 6.60e-04 | 3.50e-03 | 38 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
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 |
HAND2 | SNV | Missense_Mutation | | c.508N>A | p.Glu170Lys | p.E170K | P61296 | protein_coding | deleterious(0) | possibly_damaging(0.488) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
HAND2 | SNV | Missense_Mutation | rs776061276 | c.504N>T | p.Lys168Asn | p.K168N | P61296 | protein_coding | deleterious(0.02) | possibly_damaging(0.694) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
HAND2 | SNV | Missense_Mutation | | c.339N>T | p.Gln113His | p.Q113H | P61296 | protein_coding | tolerated(0.05) | probably_damaging(0.99) | TCGA-AQ-A04H-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
HAND2 | SNV | Missense_Mutation | | c.540G>C | p.Lys180Asn | p.K180N | P61296 | protein_coding | deleterious(0.03) | benign(0.007) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
HAND2 | SNV | Missense_Mutation | | c.311C>A | p.Ala104Asp | p.A104D | P61296 | protein_coding | deleterious(0.01) | probably_damaging(0.988) | TCGA-C8-A12P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HAND2 | SNV | Missense_Mutation | | c.540G>C | p.Lys180Asn | p.K180N | P61296 | protein_coding | deleterious(0.03) | benign(0.007) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
HAND2 | insertion | Nonsense_Mutation | novel | c.355_356insCGAAAACGGGCGGTTGTTTATAAACTTGTGGATCCGGTTGTTGAG | p.Phe119delinsSerLysThrGlyGlyCysLeuTerThrCysGlySerGlyCysTerVal | p.F119delinsSKTGGCL*TCGSGC*V | P61296 | protein_coding | | | TCGA-A8-A0AB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
HAND2 | insertion | Nonsense_Mutation | novel | c.347_348insGTGAGGAGGAGGAGAAGGAGGAGGAGGAGAGCGCGAGTGAGCAGGGG | p.Asn116LysfsTer2 | p.N116Kfs*2 | P61296 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
HAND2 | SNV | Missense_Mutation | | c.608G>A | p.Arg203Gln | p.R203Q | P61296 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EI-7004-01 | Colorectum | rectum adenocarcinoma | Female | <65 | III/IV | Chemotherapy | xeloda | SD |
HAND2 | SNV | Missense_Mutation | novel | c.491C>T | p.Ala164Val | p.A164V | P61296 | protein_coding | tolerated(0.19) | benign(0.03) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |