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:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
GO:000020917 | Esophagus | ESCC | protein polyubiquitination | 170/8552 | 236/18723 | 1.40e-16 | 1.09e-14 | 170 |
GO:007093617 | Esophagus | ESCC | protein K48-linked ubiquitination | 55/8552 | 65/18723 | 8.42e-11 | 2.58e-09 | 55 |
GO:000726510 | Esophagus | ESCC | Ras protein signal transduction | 201/8552 | 337/18723 | 1.44e-07 | 2.30e-06 | 201 |
GO:00166019 | Esophagus | ESCC | Rac protein signal transduction | 33/8552 | 42/18723 | 1.35e-05 | 1.23e-04 | 33 |
GO:0035020 | Esophagus | ESCC | regulation of Rac protein signal transduction | 17/8552 | 21/18723 | 1.03e-03 | 5.19e-03 | 17 |
GO:00465789 | Esophagus | ESCC | regulation of Ras protein signal transduction | 106/8552 | 189/18723 | 2.49e-03 | 1.08e-02 | 106 |
GO:005105610 | Esophagus | ESCC | regulation of small GTPase mediated signal transduction | 157/8552 | 302/18723 | 1.55e-02 | 4.98e-02 | 157 |
GO:001049820 | Oral cavity | OSCC | proteasomal protein catabolic process | 336/7305 | 490/18723 | 5.45e-41 | 8.63e-38 | 336 |
GO:004316120 | Oral cavity | OSCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 285/7305 | 412/18723 | 5.68e-36 | 5.99e-33 | 285 |
GO:000020910 | Oral cavity | OSCC | protein polyubiquitination | 150/7305 | 236/18723 | 1.59e-14 | 9.27e-13 | 150 |
GO:00709369 | Oral cavity | OSCC | protein K48-linked ubiquitination | 53/7305 | 65/18723 | 2.47e-12 | 1.02e-10 | 53 |
GO:00072659 | Oral cavity | OSCC | Ras protein signal transduction | 185/7305 | 337/18723 | 1.95e-09 | 4.60e-08 | 185 |
GO:00166018 | Oral cavity | OSCC | Rac protein signal transduction | 28/7305 | 42/18723 | 2.61e-04 | 1.67e-03 | 28 |
GO:00465788 | Oral cavity | OSCC | regulation of Ras protein signal transduction | 90/7305 | 189/18723 | 9.58e-03 | 3.40e-02 | 90 |
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 |
KBTBD7 | SNV | Missense_Mutation | novel | c.1367N>T | p.Cys456Phe | p.C456F | Q8WVZ9 | protein_coding | deleterious(0.03) | probably_damaging(0.989) | TCGA-AC-A5EH-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KBTBD7 | SNV | Missense_Mutation | | c.1132C>G | p.His378Asp | p.H378D | Q8WVZ9 | protein_coding | tolerated(0.52) | benign(0) | TCGA-AC-A5XU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | letrozole | SD |
KBTBD7 | SNV | Missense_Mutation | novel | c.869N>G | p.Tyr290Cys | p.Y290C | Q8WVZ9 | protein_coding | deleterious(0.02) | possibly_damaging(0.781) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
KBTBD7 | SNV | Missense_Mutation | novel | c.1109C>A | p.Pro370Gln | p.P370Q | Q8WVZ9 | protein_coding | tolerated(0.13) | benign(0.36) | TCGA-GM-A2DL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
KBTBD7 | deletion | Frame_Shift_Del | novel | c.290delA | p.Lys97ArgfsTer16 | p.K97Rfs*16 | Q8WVZ9 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
KBTBD7 | SNV | Missense_Mutation | novel | c.710G>A | p.Arg237Gln | p.R237Q | Q8WVZ9 | protein_coding | tolerated(0.44) | benign(0.007) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
KBTBD7 | SNV | Missense_Mutation | rs751767633 | c.416C>T | p.Ala139Val | p.A139V | Q8WVZ9 | protein_coding | deleterious(0.05) | benign(0.272) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
KBTBD7 | SNV | Missense_Mutation | | c.172G>A | p.Asp58Asn | p.D58N | Q8WVZ9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
KBTBD7 | SNV | Missense_Mutation | novel | c.1957N>A | p.Asp653Asn | p.D653N | Q8WVZ9 | protein_coding | tolerated_low_confidence(0.43) | probably_damaging(0.994) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
KBTBD7 | SNV | Missense_Mutation | | c.1405C>T | p.Pro469Ser | p.P469S | Q8WVZ9 | protein_coding | tolerated(0.13) | benign(0.047) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |