GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003292215 | Esophagus | ESCC | circadian regulation of gene expression | 48/8552 | 68/18723 | 2.76e-05 | 2.30e-04 | 48 |
GO:005076710 | Esophagus | ESCC | regulation of neurogenesis | 203/8552 | 364/18723 | 6.10e-05 | 4.68e-04 | 203 |
GO:00519606 | Esophagus | ESCC | regulation of nervous system development | 237/8552 | 443/18723 | 5.02e-04 | 2.78e-03 | 237 |
GO:004851118 | Esophagus | ESCC | rhythmic process | 164/8552 | 298/18723 | 6.80e-04 | 3.57e-03 | 164 |
GO:000762319 | Esophagus | ESCC | circadian rhythm | 119/8552 | 210/18723 | 8.47e-04 | 4.36e-03 | 119 |
GO:003292219 | Thyroid | PTC | circadian regulation of gene expression | 43/5968 | 68/18723 | 1.03e-07 | 2.05e-06 | 43 |
GO:005076716 | Thyroid | PTC | regulation of neurogenesis | 156/5968 | 364/18723 | 5.86e-06 | 7.05e-05 | 156 |
GO:0048511111 | Thyroid | PTC | rhythmic process | 131/5968 | 298/18723 | 7.06e-06 | 8.33e-05 | 131 |
GO:0007623111 | Thyroid | PTC | circadian rhythm | 96/5968 | 210/18723 | 1.74e-05 | 1.82e-04 | 96 |
GO:00519608 | Thyroid | PTC | regulation of nervous system development | 177/5968 | 443/18723 | 1.72e-04 | 1.32e-03 | 177 |
GO:005076723 | Thyroid | ATC | regulation of neurogenesis | 168/6293 | 364/18723 | 3.73e-07 | 5.48e-06 | 168 |
GO:003292223 | Thyroid | ATC | circadian regulation of gene expression | 43/6293 | 68/18723 | 5.45e-07 | 7.79e-06 | 43 |
GO:004851124 | Thyroid | ATC | rhythmic process | 141/6293 | 298/18723 | 5.58e-07 | 7.93e-06 | 141 |
GO:005196014 | Thyroid | ATC | regulation of nervous system development | 195/6293 | 443/18723 | 2.62e-06 | 3.06e-05 | 195 |
GO:000762325 | Thyroid | ATC | circadian rhythm | 100/6293 | 210/18723 | 1.67e-05 | 1.54e-04 | 100 |
GO:004269216 | Thyroid | ATC | muscle cell differentiation | 165/6293 | 384/18723 | 7.17e-05 | 5.46e-04 | 165 |
GO:005114617 | Thyroid | ATC | striated muscle cell differentiation | 119/6293 | 283/18723 | 1.74e-03 | 8.70e-03 | 119 |
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 |
BHLHE41 | SNV | Missense_Mutation | | c.301G>A | p.Ala101Thr | p.A101T | Q9C0J9 | protein_coding | tolerated(0.2) | benign(0.14) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
BHLHE41 | SNV | Missense_Mutation | | c.556N>G | p.Leu186Val | p.L186V | Q9C0J9 | protein_coding | tolerated(0.43) | benign(0.005) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
BHLHE41 | SNV | Missense_Mutation | | c.553N>A | p.Pro185Thr | p.P185T | Q9C0J9 | protein_coding | tolerated(0.06) | benign(0.003) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BHLHE41 | insertion | In_Frame_Ins | novel | c.140_141insCATTGGAACGAGCCCATTTCCCGAAGC | p.Leu47delinsPheIleGlyThrSerProPheProGluAla | p.L47delinsFIGTSPFPEA | Q9C0J9 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
BHLHE41 | deletion | Frame_Shift_Del | novel | c.532delN | p.Gln178SerfsTer3 | p.Q178Sfs*3 | Q9C0J9 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
BHLHE41 | SNV | Missense_Mutation | novel | c.52N>T | p.Asp18Tyr | p.D18Y | Q9C0J9 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BHLHE41 | SNV | Missense_Mutation | novel | c.7G>A | p.Glu3Lys | p.E3K | Q9C0J9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.986) | TCGA-VS-A9UH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BHLHE41 | SNV | Missense_Mutation | | c.55N>G | p.Phe19Val | p.F19V | Q9C0J9 | protein_coding | tolerated(0.16) | benign(0.043) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
BHLHE41 | SNV | Missense_Mutation | novel | c.355N>C | p.Ser119Pro | p.S119P | Q9C0J9 | protein_coding | tolerated(0.06) | possibly_damaging(0.777) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
BHLHE41 | SNV | Missense_Mutation | | c.436C>T | p.Leu146Phe | p.L146F | Q9C0J9 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AG-3726-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |