GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
GO:1902903111 | Esophagus | ESCC | regulation of supramolecular fiber organization | 237/8552 | 383/18723 | 9.06e-11 | 2.75e-09 | 237 |
GO:000701527 | Esophagus | ESCC | actin filament organization | 259/8552 | 442/18723 | 2.37e-08 | 4.50e-07 | 259 |
GO:0032970111 | Esophagus | ESCC | regulation of actin filament-based process | 231/8552 | 397/18723 | 2.91e-07 | 4.20e-06 | 231 |
GO:0032956111 | Esophagus | ESCC | regulation of actin cytoskeleton organization | 210/8552 | 358/18723 | 4.40e-07 | 6.00e-06 | 210 |
GO:011005327 | Esophagus | ESCC | regulation of actin filament organization | 166/8552 | 278/18723 | 1.54e-06 | 1.85e-05 | 166 |
GO:190211514 | Esophagus | ESCC | regulation of organelle assembly | 116/8552 | 186/18723 | 3.15e-06 | 3.53e-05 | 116 |
GO:005101727 | Esophagus | ESCC | actin filament bundle assembly | 100/8552 | 157/18723 | 3.87e-06 | 4.17e-05 | 100 |
GO:00070982 | Esophagus | ESCC | centrosome cycle | 85/8552 | 130/18723 | 4.41e-06 | 4.69e-05 | 85 |
GO:00310233 | Esophagus | ESCC | microtubule organizing center organization | 92/8552 | 143/18723 | 5.04e-06 | 5.31e-05 | 92 |
GO:006157227 | Esophagus | ESCC | actin filament bundle organization | 101/8552 | 161/18723 | 9.22e-06 | 8.82e-05 | 101 |
GO:003003820 | Esophagus | ESCC | contractile actin filament bundle assembly | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
GO:004314920 | Esophagus | ESCC | stress fiber assembly | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
GO:00328864 | Esophagus | ESCC | regulation of microtubule-based process | 134/8552 | 240/18723 | 9.44e-04 | 4.80e-03 | 134 |
GO:003223120 | Esophagus | ESCC | regulation of actin filament bundle assembly | 64/8552 | 105/18723 | 1.15e-03 | 5.70e-03 | 64 |
GO:005149225 | Esophagus | ESCC | regulation of stress fiber assembly | 56/8552 | 91/18723 | 1.66e-03 | 7.68e-03 | 56 |
GO:003103219 | Esophagus | ESCC | actomyosin structure organization | 108/8552 | 196/18723 | 4.86e-03 | 1.88e-02 | 108 |
GO:011002025 | Esophagus | ESCC | regulation of actomyosin structure organization | 59/8552 | 100/18723 | 4.98e-03 | 1.91e-02 | 59 |
GO:01201624 | Esophagus | ESCC | positive regulation of cold-induced thermogenesis | 57/8552 | 97/18723 | 6.43e-03 | 2.35e-02 | 57 |
GO:01061066 | Esophagus | ESCC | cold-induced thermogenesis | 80/8552 | 144/18723 | 1.07e-02 | 3.65e-02 | 80 |
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 |
ALMS1 | SNV | Missense_Mutation | rs867586310 | c.1012N>T | p.Arg338Cys | p.R338C | | protein_coding | deleterious(0.01) | benign(0.443) | TCGA-KP-A3VZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ALMS1 | SNV | Missense_Mutation | novel | c.1021G>T | p.Asp341Tyr | p.D341Y | | protein_coding | deleterious(0.03) | benign(0.284) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
ALMS1 | SNV | Missense_Mutation | novel | c.3451C>T | p.Pro1151Ser | p.P1151S | | protein_coding | tolerated(0.13) | probably_damaging(0.998) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
ALMS1 | SNV | Missense_Mutation | novel | c.5533A>C | p.Ile1845Leu | p.I1845L | | protein_coding | deleterious(0.03) | benign(0.014) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
ALMS1 | SNV | Missense_Mutation | novel | c.11819N>A | p.Thr3940Asn | p.T3940N | | protein_coding | deleterious(0.05) | benign(0.34) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ALMS1 | insertion | Frame_Shift_Ins | novel | c.7098_7099insCATTATTT | p.Glu2367HisfsTer11 | p.E2367Hfs*11 | | protein_coding | | | TCGA-A5-A0R9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ALMS1 | insertion | Frame_Shift_Ins | novel | c.8350_8351insGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTC | p.Glu2784GlyfsTer23 | p.E2784Gfs*23 | | protein_coding | | | TCGA-AP-A05H-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
ALMS1 | insertion | Nonsense_Mutation | novel | c.7484_7485insCTTTTTATGACAGTCATCATAGGGATAATAATT | p.His2495_Ala2496insPheLeuTerGlnSerSerTerGlyTerTerPhe | p.H2495_A2496insFL*QSS*G**F | | protein_coding | | | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
ALMS1 | deletion | Frame_Shift_Del | rs758098717 | c.4814delN | p.Lys1607ArgfsTer9 | p.K1607Rfs*9 | | protein_coding | | | TCGA-B5-A11J-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ALMS1 | insertion | Nonsense_Mutation | novel | c.7071_7072insCTGTCATCAGCCTGAG | p.Thr2358LeufsTer5 | p.T2358Lfs*5 | | protein_coding | | | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |