GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001049812 | Liver | Cirrhotic | proteasomal protein catabolic process | 216/4634 | 490/18723 | 2.52e-21 | 9.29e-19 | 216 |
GO:00349767 | Liver | Cirrhotic | response to endoplasmic reticulum stress | 130/4634 | 256/18723 | 1.72e-19 | 3.86e-17 | 130 |
GO:004316112 | Liver | Cirrhotic | proteasome-mediated ubiquitin-dependent protein catabolic process | 184/4634 | 412/18723 | 4.52e-19 | 8.85e-17 | 184 |
GO:0030433 | Liver | Cirrhotic | ubiquitin-dependent ERAD pathway | 45/4634 | 85/18723 | 2.19e-08 | 7.75e-07 | 45 |
GO:00365032 | Liver | Cirrhotic | ERAD pathway | 53/4634 | 107/18723 | 2.58e-08 | 8.89e-07 | 53 |
GO:00065171 | Liver | Cirrhotic | protein deglycosylation | 14/4634 | 26/18723 | 1.37e-03 | 9.14e-03 | 14 |
GO:00365071 | Liver | Cirrhotic | protein demannosylation | 10/4634 | 18/18723 | 5.00e-03 | 2.59e-02 | 10 |
GO:00365081 | Liver | Cirrhotic | protein alpha-1,2-demannosylation | 10/4634 | 18/18723 | 5.00e-03 | 2.59e-02 | 10 |
GO:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
GO:004316122 | Liver | HCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 299/7958 | 412/18723 | 7.82e-36 | 8.27e-33 | 299 |
GO:003497612 | Liver | HCC | response to endoplasmic reticulum stress | 189/7958 | 256/18723 | 1.43e-24 | 4.06e-22 | 189 |
GO:003650311 | Liver | HCC | ERAD pathway | 88/7958 | 107/18723 | 2.87e-17 | 2.85e-15 | 88 |
GO:00304331 | Liver | HCC | ubiquitin-dependent ERAD pathway | 72/7958 | 85/18723 | 9.78e-16 | 7.47e-14 | 72 |
GO:00065172 | Liver | HCC | protein deglycosylation | 22/7958 | 26/18723 | 1.23e-05 | 1.39e-04 | 22 |
GO:00365072 | Liver | HCC | protein demannosylation | 15/7958 | 18/18723 | 4.74e-04 | 3.12e-03 | 15 |
GO:00365082 | Liver | HCC | protein alpha-1,2-demannosylation | 15/7958 | 18/18723 | 4.74e-04 | 3.12e-03 | 15 |
GO:1904380 | Liver | HCC | endoplasmic reticulum mannose trimming | 13/7958 | 15/18723 | 5.67e-04 | 3.61e-03 | 13 |
GO:0009100 | Liver | HCC | glycoprotein metabolic process | 193/7958 | 387/18723 | 1.89e-03 | 9.62e-03 | 193 |
GO:001049818 | Prostate | BPH | proteasomal protein catabolic process | 153/3107 | 490/18723 | 4.13e-16 | 7.51e-14 | 153 |
GO:003497618 | Prostate | BPH | response to endoplasmic reticulum stress | 95/3107 | 256/18723 | 1.54e-15 | 2.52e-13 | 95 |
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 |
RNF103 | SNV | Missense_Mutation | rs780637344 | c.280N>A | p.Glu94Lys | p.E94K | O00237 | protein_coding | tolerated(0.21) | benign(0.335) | TCGA-A5-A0GP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RNF103 | SNV | Missense_Mutation | | c.28C>A | p.Leu10Ile | p.L10I | O00237 | protein_coding | tolerated(0.64) | probably_damaging(0.952) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RNF103 | SNV | Missense_Mutation | novel | c.190N>A | p.Glu64Lys | p.E64K | O00237 | protein_coding | deleterious(0) | possibly_damaging(0.448) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RNF103 | SNV | Missense_Mutation | novel | c.1807N>T | p.Asp603Tyr | p.D603Y | O00237 | protein_coding | deleterious(0.01) | benign(0.003) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RNF103 | SNV | Missense_Mutation | | c.1626N>T | p.Glu542Asp | p.E542D | O00237 | protein_coding | tolerated(0.49) | probably_damaging(0.97) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RNF103 | SNV | Missense_Mutation | | c.678A>T | p.Glu226Asp | p.E226D | O00237 | protein_coding | tolerated(0.51) | benign(0.007) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNF103 | SNV | Missense_Mutation | | c.1817N>A | p.Pro606His | p.P606H | O00237 | protein_coding | deleterious(0.02) | probably_damaging(0.956) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
RNF103 | SNV | Missense_Mutation | rs780637344 | c.280N>A | p.Glu94Lys | p.E94K | O00237 | protein_coding | tolerated(0.21) | benign(0.335) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
RNF103 | SNV | Missense_Mutation | rs138890703 | c.1318N>T | p.Arg440Cys | p.R440C | O00237 | protein_coding | tolerated(0.18) | possibly_damaging(0.65) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
RNF103 | SNV | Missense_Mutation | rs375282269 | c.1319G>A | p.Arg440His | p.R440H | O00237 | protein_coding | tolerated(0.55) | benign(0.003) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |