GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004352310 | Oral cavity | OSCC | regulation of neuron apoptotic process | 111/7305 | 212/18723 | 5.12e-05 | 4.27e-04 | 111 |
GO:003246917 | Oral cavity | OSCC | endoplasmic reticulum calcium ion homeostasis | 19/7305 | 25/18723 | 1.89e-04 | 1.28e-03 | 19 |
GO:19001024 | Oral cavity | OSCC | negative regulation of endoplasmic reticulum unfolded protein response | 13/7305 | 15/18723 | 2.07e-04 | 1.36e-03 | 13 |
GO:005087819 | Oral cavity | OSCC | regulation of body fluid levels | 179/7305 | 379/18723 | 6.19e-04 | 3.50e-03 | 179 |
GO:19012159 | Oral cavity | OSCC | negative regulation of neuron death | 104/7305 | 208/18723 | 7.90e-04 | 4.27e-03 | 104 |
GO:00016558 | Oral cavity | OSCC | urogenital system development | 160/7305 | 338/18723 | 1.03e-03 | 5.31e-03 | 160 |
GO:190223619 | Oral cavity | OSCC | negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 15/7305 | 20/18723 | 1.19e-03 | 5.99e-03 | 15 |
GO:004259316 | Oral cavity | OSCC | glucose homeostasis | 125/7305 | 258/18723 | 1.21e-03 | 6.08e-03 | 125 |
GO:003350016 | Oral cavity | OSCC | carbohydrate homeostasis | 125/7305 | 259/18723 | 1.44e-03 | 6.97e-03 | 125 |
GO:004592710 | Oral cavity | OSCC | positive regulation of growth | 125/7305 | 259/18723 | 1.44e-03 | 6.97e-03 | 125 |
GO:00069833 | Oral cavity | OSCC | ER overload response | 10/7305 | 13/18723 | 6.32e-03 | 2.35e-02 | 10 |
GO:000645719 | Oral cavity | LP | protein folding | 125/4623 | 212/18723 | 1.62e-26 | 8.45e-24 | 125 |
GO:0010498110 | Oral cavity | LP | proteasomal protein catabolic process | 224/4623 | 490/18723 | 9.57e-25 | 4.00e-22 | 224 |
GO:0097193110 | Oral cavity | LP | intrinsic apoptotic signaling pathway | 146/4623 | 288/18723 | 9.76e-22 | 2.78e-19 | 146 |
GO:0043161110 | Oral cavity | LP | proteasome-mediated ubiquitin-dependent protein catabolic process | 190/4623 | 412/18723 | 1.08e-21 | 2.93e-19 | 190 |
GO:0034976110 | Oral cavity | LP | response to endoplasmic reticulum stress | 133/4623 | 256/18723 | 3.84e-21 | 9.24e-19 | 133 |
GO:2001233110 | Oral cavity | LP | regulation of apoptotic signaling pathway | 168/4623 | 356/18723 | 1.35e-20 | 3.02e-18 | 168 |
GO:2001242110 | Oral cavity | LP | regulation of intrinsic apoptotic signaling pathway | 95/4623 | 164/18723 | 9.85e-20 | 1.99e-17 | 95 |
GO:0035966110 | Oral cavity | LP | response to topologically incorrect protein | 87/4623 | 159/18723 | 4.31e-16 | 6.28e-14 | 87 |
GO:0006986110 | Oral cavity | LP | response to unfolded protein | 76/4623 | 137/18723 | 1.14e-14 | 1.35e-12 | 76 |
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 |