GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
GO:0097193111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway | 222/8552 | 288/18723 | 5.87e-28 | 2.02e-25 | 222 |
GO:0042176111 | Esophagus | ESCC | regulation of protein catabolic process | 280/8552 | 391/18723 | 8.65e-26 | 2.39e-23 | 280 |
GO:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:2001233111 | Esophagus | ESCC | regulation of apoptotic signaling pathway | 256/8552 | 356/18723 | 4.11e-24 | 1.04e-21 | 256 |
GO:1903362111 | Esophagus | ESCC | regulation of cellular protein catabolic process | 188/8552 | 255/18723 | 5.12e-20 | 6.62e-18 | 188 |
GO:1903050111 | Esophagus | ESCC | regulation of proteolysis involved in cellular protein catabolic process | 163/8552 | 221/18723 | 1.44e-17 | 1.27e-15 | 163 |
GO:2001242111 | Esophagus | ESCC | regulation of intrinsic apoptotic signaling pathway | 128/8552 | 164/18723 | 1.75e-17 | 1.50e-15 | 128 |
GO:0061136111 | Esophagus | ESCC | regulation of proteasomal protein catabolic process | 142/8552 | 187/18723 | 2.40e-17 | 2.00e-15 | 142 |
GO:0032434111 | Esophagus | ESCC | regulation of proteasomal ubiquitin-dependent protein catabolic process | 107/8552 | 134/18723 | 4.06e-16 | 2.93e-14 | 107 |
GO:2000058111 | Esophagus | ESCC | regulation of ubiquitin-dependent protein catabolic process | 125/8552 | 164/18723 | 1.17e-15 | 7.76e-14 | 125 |
GO:2001234111 | Esophagus | ESCC | negative regulation of apoptotic signaling pathway | 161/8552 | 224/18723 | 1.24e-15 | 8.09e-14 | 161 |
GO:000941113 | Esophagus | ESCC | response to UV | 115/8552 | 149/18723 | 3.29e-15 | 1.93e-13 | 115 |
GO:000635414 | Esophagus | ESCC | DNA-templated transcription, elongation | 76/8552 | 91/18723 | 8.35e-14 | 4.11e-12 | 76 |
GO:2001243111 | Esophagus | ESCC | negative regulation of intrinsic apoptotic signaling pathway | 78/8552 | 98/18723 | 5.50e-12 | 2.10e-10 | 78 |
GO:0008630110 | Esophagus | ESCC | intrinsic apoptotic signaling pathway in response to DNA damage | 78/8552 | 99/18723 | 1.43e-11 | 5.08e-10 | 78 |
GO:0008637110 | Esophagus | ESCC | apoptotic mitochondrial changes | 83/8552 | 107/18723 | 1.43e-11 | 5.08e-10 | 83 |
GO:190198713 | Esophagus | ESCC | regulation of cell cycle phase transition | 242/8552 | 390/18723 | 3.86e-11 | 1.26e-09 | 242 |
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 |
CCAR2 | SNV | Missense_Mutation | novel | c.2452N>T | p.Arg818Cys | p.R818C | Q8N163 | protein_coding | tolerated(0.11) | probably_damaging(0.952) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
CCAR2 | SNV | Missense_Mutation | novel | c.226N>C | p.Val76Leu | p.V76L | Q8N163 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CCAR2 | SNV | Missense_Mutation | | c.406N>C | p.Gly136Arg | p.G136R | Q8N163 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
CCAR2 | SNV | Missense_Mutation | | c.607C>T | p.Arg203Cys | p.R203C | Q8N163 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-E9-A1ND-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
CCAR2 | insertion | In_Frame_Ins | novel | c.1330_1331insTTG | p.Gln444delinsLeuGlu | p.Q444delinsLE | Q8N163 | protein_coding | | | TCGA-A8-A083-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCAR2 | insertion | Frame_Shift_Ins | novel | c.1332_1333insACTCCCTGGAGTTGTCCTTGCAC | p.Gln445ThrfsTer69 | p.Q445Tfs*69 | Q8N163 | protein_coding | | | TCGA-A8-A083-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCAR2 | insertion | Nonsense_Mutation | novel | c.2552_2553insCTTTTTTTTTTCTTTTCTTTTTTG | p.Glu851delinsAspPhePhePheSerPheLeuPheTer | p.E851delinsDFFFSFLF* | Q8N163 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCAR2 | insertion | Frame_Shift_Ins | novel | c.227_228insCGCTCCAGGGAAATCTTTAG | p.Phe77AlafsTer11 | p.F77Afs*11 | Q8N163 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CCAR2 | deletion | Frame_Shift_Del | | c.2359delN | p.Ser789AlafsTer21 | p.S789Afs*21 | Q8N163 | protein_coding | | | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
CCAR2 | SNV | Missense_Mutation | rs200429085 | c.674N>A | p.Arg225Gln | p.R225Q | Q8N163 | protein_coding | tolerated(0.24) | probably_damaging(0.968) | TCGA-DS-A0VN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |