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:003164722 | Liver | HCC | regulation of protein stability | 211/7958 | 298/18723 | 2.29e-23 | 5.01e-21 | 211 |
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:005082122 | Liver | HCC | protein stabilization | 139/7958 | 191/18723 | 1.61e-17 | 1.71e-15 | 139 |
GO:003650311 | Liver | HCC | ERAD pathway | 88/7958 | 107/18723 | 2.87e-17 | 2.85e-15 | 88 |
GO:190332022 | Liver | HCC | regulation of protein modification by small protein conjugation or removal | 167/7958 | 242/18723 | 4.99e-17 | 4.72e-15 | 167 |
GO:200123322 | Liver | HCC | regulation of apoptotic signaling pathway | 226/7958 | 356/18723 | 7.26e-16 | 5.68e-14 | 226 |
GO:00304331 | Liver | HCC | ubiquitin-dependent ERAD pathway | 72/7958 | 85/18723 | 9.78e-16 | 7.47e-14 | 72 |
GO:000698612 | Liver | HCC | response to unfolded protein | 103/7958 | 137/18723 | 6.50e-15 | 4.48e-13 | 103 |
GO:003596712 | Liver | HCC | cellular response to topologically incorrect protein | 89/7958 | 116/18723 | 5.61e-14 | 3.39e-12 | 89 |
GO:003139622 | Liver | HCC | regulation of protein ubiquitination | 142/7958 | 210/18723 | 1.39e-13 | 7.81e-12 | 142 |
GO:009719322 | Liver | HCC | intrinsic apoptotic signaling pathway | 184/7958 | 288/18723 | 1.50e-13 | 8.32e-12 | 184 |
GO:200123412 | Liver | HCC | negative regulation of apoptotic signaling pathway | 145/7958 | 224/18723 | 1.33e-11 | 5.36e-10 | 145 |
GO:003462012 | Liver | HCC | cellular response to unfolded protein | 71/7958 | 96/18723 | 3.70e-10 | 1.22e-08 | 71 |
GO:200124212 | Liver | HCC | regulation of intrinsic apoptotic signaling pathway | 109/7958 | 164/18723 | 4.52e-10 | 1.45e-08 | 109 |
GO:19033221 | Liver | HCC | positive regulation of protein modification by small protein conjugation or removal | 94/7958 | 138/18723 | 9.87e-10 | 3.01e-08 | 94 |
GO:190589712 | Liver | HCC | regulation of response to endoplasmic reticulum stress | 62/7958 | 82/18723 | 1.06e-09 | 3.23e-08 | 62 |
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 |
WFS1 | SNV | Missense_Mutation | novel | c.341N>T | p.Ala114Val | p.A114V | O76024 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AC-A3EH-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
WFS1 | SNV | Missense_Mutation | rs752775825 | c.2581N>A | p.Val861Met | p.V861M | O76024 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-AC-A5XU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | letrozole | SD |
WFS1 | SNV | Missense_Mutation | rs727503749 | c.1261N>G | p.Ile421Val | p.I421V | O76024 | protein_coding | tolerated(1) | benign(0) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
WFS1 | SNV | Missense_Mutation | novel | c.346G>A | p.Asp116Asn | p.D116N | O76024 | protein_coding | deleterious(0.04) | benign(0.11) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
WFS1 | SNV | Missense_Mutation | rs369795224 | c.977C>T | p.Ala326Val | p.A326V | O76024 | protein_coding | tolerated(0.05) | possibly_damaging(0.768) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
WFS1 | SNV | Missense_Mutation | novel | c.954N>G | p.Ile318Met | p.I318M | O76024 | protein_coding | tolerated(0.34) | benign(0.178) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
WFS1 | SNV | Missense_Mutation | rs373146435 | c.1180G>A | p.Glu394Lys | p.E394K | O76024 | protein_coding | deleterious(0.01) | probably_damaging(0.993) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
WFS1 | SNV | Missense_Mutation | | c.184N>A | p.Glu62Lys | p.E62K | O76024 | protein_coding | tolerated(0.74) | benign(0) | TCGA-UC-A7PF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
WFS1 | SNV | Missense_Mutation | rs145639028 | c.376N>A | p.Ala126Thr | p.A126T | O76024 | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-AA-3509-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
WFS1 | SNV | Missense_Mutation | novel | c.1634N>G | p.Val545Gly | p.V545G | O76024 | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |