GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
GO:014005313 | Esophagus | ESCC | mitochondrial gene expression | 93/8552 | 108/18723 | 1.96e-18 | 2.03e-16 | 93 |
GO:00080333 | Esophagus | ESCC | tRNA processing | 92/8552 | 127/18723 | 7.83e-10 | 1.93e-08 | 92 |
GO:00063992 | Esophagus | ESCC | tRNA metabolic process | 122/8552 | 179/18723 | 9.03e-10 | 2.19e-08 | 122 |
GO:000716320 | Esophagus | ESCC | establishment or maintenance of cell polarity | 143/8552 | 218/18723 | 2.05e-09 | 4.65e-08 | 143 |
GO:00094512 | Esophagus | ESCC | RNA modification | 114/8552 | 167/18723 | 2.76e-09 | 6.04e-08 | 114 |
GO:000726510 | Esophagus | ESCC | Ras protein signal transduction | 201/8552 | 337/18723 | 1.44e-07 | 2.30e-06 | 201 |
GO:003001018 | Esophagus | ESCC | establishment of cell polarity | 96/8552 | 143/18723 | 1.69e-07 | 2.67e-06 | 96 |
GO:00009592 | Esophagus | ESCC | mitochondrial RNA metabolic process | 39/8552 | 49/18723 | 1.20e-06 | 1.49e-05 | 39 |
GO:00009631 | Esophagus | ESCC | mitochondrial RNA processing | 19/8552 | 20/18723 | 3.83e-06 | 4.14e-05 | 19 |
GO:004545419 | Esophagus | ESCC | cell redox homeostasis | 29/8552 | 35/18723 | 6.61e-06 | 6.75e-05 | 29 |
GO:00064002 | Esophagus | ESCC | tRNA modification | 62/8552 | 90/18723 | 7.02e-06 | 7.04e-05 | 62 |
GO:005067318 | Esophagus | ESCC | epithelial cell proliferation | 238/8552 | 437/18723 | 1.19e-04 | 8.20e-04 | 238 |
GO:005067817 | Esophagus | ESCC | regulation of epithelial cell proliferation | 206/8552 | 381/18723 | 5.51e-04 | 3.02e-03 | 206 |
GO:000166720 | Esophagus | ESCC | ameboidal-type cell migration | 250/8552 | 475/18723 | 1.22e-03 | 5.97e-03 | 250 |
GO:0090646 | Esophagus | ESCC | mitochondrial tRNA processing | 11/8552 | 12/18723 | 1.26e-03 | 6.06e-03 | 11 |
GO:001063120 | Esophagus | ESCC | epithelial cell migration | 187/8552 | 357/18723 | 6.05e-03 | 2.23e-02 | 187 |
GO:009013220 | Esophagus | ESCC | epithelium migration | 188/8552 | 360/18723 | 6.96e-03 | 2.54e-02 | 188 |
GO:009013020 | Esophagus | ESCC | tissue migration | 190/8552 | 365/18723 | 7.91e-03 | 2.82e-02 | 190 |
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 |
RIT1 | SNV | Missense_Mutation | novel | c.661N>G | p.Trp221Gly | p.W221G | Q92963 | protein_coding | tolerated(0.06) | probably_damaging(0.968) | TCGA-E2-A14N-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
RIT1 | deletion | Frame_Shift_Del | | c.305_314delNNNNNNNNNN | p.Met102SerfsTer3 | p.M102Sfs*3 | Q92963 | protein_coding | | | TCGA-A2-A04T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
RIT1 | insertion | Frame_Shift_Ins | novel | c.260_261insGGATCTCACTATGTTGCCCAGGCTGATCT | p.Asn87LysfsTer31 | p.N87Kfs*31 | Q92963 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RIT1 | SNV | Missense_Mutation | rs483352822 | c.321N>A | p.Met107Ile | p.M107I | Q92963 | protein_coding | tolerated(0.07) | probably_damaging(0.972) | TCGA-C5-A1ML-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
RIT1 | SNV | Missense_Mutation | | c.153N>C | p.Lys51Asn | p.K51N | Q92963 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
RIT1 | SNV | Missense_Mutation | rs777167776 | c.262N>G | p.Leu88Val | p.L88V | Q92963 | protein_coding | deleterious(0.01) | possibly_damaging(0.861) | TCGA-FU-A3HY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
RIT1 | SNV | Missense_Mutation | | c.565N>A | p.Asp189Asn | p.D189N | Q92963 | protein_coding | tolerated(0.1) | probably_damaging(0.999) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
RIT1 | SNV | Missense_Mutation | novel | c.230T>G | p.Ile77Ser | p.I77S | Q92963 | protein_coding | deleterious(0.03) | benign(0.056) | TCGA-AG-3726-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIT1 | SNV | Missense_Mutation | novel | c.697G>T | p.Asp233Tyr | p.D233Y | Q92963 | protein_coding | deleterious_low_confidence(0) | benign(0.367) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RIT1 | SNV | Missense_Mutation | | c.554N>A | p.Arg185His | p.R185H | Q92963 | protein_coding | deleterious(0.01) | benign(0.15) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |