GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0042176111 | Esophagus | ESCC | regulation of protein catabolic process | 280/8552 | 391/18723 | 8.65e-26 | 2.39e-23 | 280 |
GO:0009896111 | Esophagus | ESCC | positive regulation of catabolic process | 332/8552 | 492/18723 | 4.36e-23 | 9.22e-21 | 332 |
GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0031331111 | Esophagus | ESCC | positive regulation of cellular catabolic process | 292/8552 | 427/18723 | 8.67e-22 | 1.53e-19 | 292 |
GO:1903362111 | Esophagus | ESCC | regulation of cellular protein catabolic process | 188/8552 | 255/18723 | 5.12e-20 | 6.62e-18 | 188 |
GO:0045862111 | Esophagus | ESCC | positive regulation of proteolysis | 256/8552 | 372/18723 | 7.88e-20 | 9.43e-18 | 256 |
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:0061136111 | Esophagus | ESCC | regulation of proteasomal protein catabolic process | 142/8552 | 187/18723 | 2.40e-17 | 2.00e-15 | 142 |
GO:0045732111 | Esophagus | ESCC | positive regulation of protein catabolic process | 167/8552 | 231/18723 | 1.47e-16 | 1.14e-14 | 167 |
GO:1903364111 | Esophagus | ESCC | positive regulation of cellular protein catabolic process | 117/8552 | 155/18723 | 3.25e-14 | 1.66e-12 | 117 |
GO:1901800110 | Esophagus | ESCC | positive regulation of proteasomal protein catabolic process | 91/8552 | 114/18723 | 6.74e-14 | 3.34e-12 | 91 |
GO:1903052110 | Esophagus | ESCC | positive regulation of proteolysis involved in cellular protein catabolic process | 101/8552 | 133/18723 | 9.58e-13 | 4.19e-11 | 101 |
GO:003650315 | Esophagus | ESCC | ERAD pathway | 82/8552 | 107/18723 | 5.80e-11 | 1.84e-09 | 82 |
GO:1905897111 | Esophagus | ESCC | regulation of response to endoplasmic reticulum stress | 63/8552 | 82/18723 | 8.16e-09 | 1.66e-07 | 63 |
GO:190589813 | Esophagus | ESCC | positive regulation of response to endoplasmic reticulum stress | 29/8552 | 35/18723 | 6.61e-06 | 6.75e-05 | 29 |
GO:19042943 | Esophagus | ESCC | positive regulation of ERAD pathway | 13/8552 | 14/18723 | 3.02e-04 | 1.81e-03 | 13 |
GO:00518658 | Esophagus | ESCC | protein autoubiquitination | 47/8552 | 73/18723 | 9.72e-04 | 4.93e-03 | 47 |
GO:19042922 | Esophagus | ESCC | regulation of ERAD pathway | 16/8552 | 20/18723 | 1.85e-03 | 8.40e-03 | 16 |
GO:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
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 |
RNFT1 | SNV | Missense_Mutation | novel | c.515N>A | p.Gly172Glu | p.G172E | Q5M7Z0 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNFT1 | SNV | Missense_Mutation | | c.1095N>C | p.Lys365Asn | p.K365N | Q5M7Z0 | protein_coding | tolerated(0.13) | possibly_damaging(0.543) | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
RNFT1 | SNV | Missense_Mutation | | c.98N>G | p.Lys33Arg | p.K33R | Q5M7Z0 | protein_coding | tolerated(0.29) | benign(0.037) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNFT1 | SNV | Missense_Mutation | novel | c.1205G>T | p.Trp402Leu | p.W402L | Q5M7Z0 | protein_coding | deleterious(0) | possibly_damaging(0.783) | TCGA-LL-A5YN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
RNFT1 | insertion | Nonsense_Mutation | novel | c.168_169insCAAACTTGTTATGCAGCATATAACAGGTAGG | p.Ala57GlnfsTer10 | p.A57Qfs*10 | Q5M7Z0 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNFT1 | insertion | In_Frame_Ins | novel | c.1181_1182insGAA | p.Phe394delinsLeuAsn | p.F394delinsLN | Q5M7Z0 | protein_coding | | | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
RNFT1 | insertion | Nonsense_Mutation | novel | c.1180_1181insAAGACAAAAGCTAAACTAGCAAA | p.Phe394Ter | p.F394* | Q5M7Z0 | protein_coding | | | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
RNFT1 | SNV | Missense_Mutation | novel | c.91N>A | p.Glu31Lys | p.E31K | Q5M7Z0 | protein_coding | tolerated(0.62) | benign(0) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
RNFT1 | SNV | Missense_Mutation | | c.557N>T | p.Ala186Val | p.A186V | Q5M7Z0 | protein_coding | tolerated(0.22) | benign(0.152) | TCGA-A6-6650-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNFT1 | SNV | Missense_Mutation | | c.121A>G | p.Asn41Asp | p.N41D | Q5M7Z0 | protein_coding | tolerated(0.33) | benign(0.003) | TCGA-AA-3821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |