GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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:000645712 | Liver | HCC | protein folding | 160/7958 | 212/18723 | 1.07e-22 | 1.88e-20 | 160 |
GO:003596612 | Liver | HCC | response to topologically incorrect protein | 123/7958 | 159/18723 | 2.60e-19 | 3.44e-17 | 123 |
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:003596712 | Liver | HCC | cellular response to topologically incorrect protein | 89/7958 | 116/18723 | 5.61e-14 | 3.39e-12 | 89 |
GO:006107712 | Liver | HCC | chaperone-mediated protein folding | 56/7958 | 67/18723 | 4.86e-12 | 2.14e-10 | 56 |
GO:000645812 | Liver | HCC | 'de novo' protein folding | 36/7958 | 43/18723 | 3.15e-08 | 7.10e-07 | 36 |
GO:00517882 | Liver | HCC | response to misfolded protein | 23/7958 | 25/18723 | 2.95e-07 | 5.14e-06 | 23 |
GO:005108412 | Liver | HCC | 'de novo' posttranslational protein folding | 32/7958 | 39/18723 | 4.73e-07 | 7.69e-06 | 32 |
GO:007121811 | Liver | HCC | cellular response to misfolded protein | 21/7958 | 23/18723 | 1.39e-06 | 2.01e-05 | 21 |
GO:005108512 | Liver | HCC | chaperone cofactor-dependent protein refolding | 27/7958 | 34/18723 | 1.24e-05 | 1.39e-04 | 27 |
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 |
DNAJC18 | SNV | Missense_Mutation | novel | c.716N>C | p.Val239Ala | p.V239A | Q9H819 | protein_coding | deleterious(0) | possibly_damaging(0.446) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
DNAJC18 | SNV | Missense_Mutation | novel | c.308N>T | p.Arg103Ile | p.R103I | Q9H819 | protein_coding | deleterious(0) | possibly_damaging(0.678) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DNAJC18 | SNV | Missense_Mutation | novel | c.52N>A | p.Ala18Thr | p.A18T | Q9H819 | protein_coding | tolerated(0.13) | probably_damaging(0.978) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DNAJC18 | SNV | Missense_Mutation | rs143797552 | c.421N>T | p.Arg141Cys | p.R141C | Q9H819 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DNAJC18 | SNV | Missense_Mutation | rs143797552 | c.421N>T | p.Arg141Cys | p.R141C | Q9H819 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJC18 | SNV | Missense_Mutation | novel | c.506A>G | p.Asp169Gly | p.D169G | Q9H819 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DNAJC18 | SNV | Missense_Mutation | novel | c.524N>C | p.Leu175Pro | p.L175P | Q9H819 | protein_coding | deleterious(0) | possibly_damaging(0.694) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJC18 | SNV | Missense_Mutation | novel | c.888G>T | p.Glu296Asp | p.E296D | Q9H819 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
DNAJC18 | SNV | Missense_Mutation | novel | c.8C>T | p.Ala3Val | p.A3V | Q9H819 | protein_coding | deleterious_low_confidence(0.01) | benign(0.03) | TCGA-AX-A1C5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | SD |
DNAJC18 | SNV | Missense_Mutation | novel | c.914N>C | p.Asp305Ala | p.D305A | Q9H819 | protein_coding | tolerated(0.72) | benign(0.103) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |