GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00324093 | Colorectum | CRC | regulation of transporter activity | 59/2078 | 310/18723 | 2.34e-05 | 6.65e-04 | 59 |
GO:00068141 | Colorectum | CRC | sodium ion transport | 49/2078 | 245/18723 | 3.01e-05 | 7.86e-04 | 49 |
GO:00109591 | Colorectum | CRC | regulation of metal ion transport | 69/2078 | 406/18723 | 2.05e-04 | 3.48e-03 | 69 |
GO:00518653 | Colorectum | CRC | protein autoubiquitination | 18/2078 | 73/18723 | 8.33e-04 | 1.04e-02 | 18 |
GO:19040621 | Colorectum | CRC | regulation of cation transmembrane transport | 58/2078 | 357/18723 | 1.89e-03 | 1.93e-02 | 58 |
GO:1901379 | Colorectum | CRC | regulation of potassium ion transmembrane transport | 20/2078 | 95/18723 | 3.46e-03 | 2.94e-02 | 20 |
GO:0043266 | Colorectum | CRC | regulation of potassium ion transport | 22/2078 | 109/18723 | 3.87e-03 | 3.22e-02 | 22 |
GO:1901016 | Colorectum | CRC | regulation of potassium ion transmembrane transporter activity | 15/2078 | 68/18723 | 6.77e-03 | 4.77e-02 | 15 |
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:004819318 | Esophagus | ESCC | Golgi vesicle transport | 231/8552 | 296/18723 | 1.82e-30 | 9.63e-28 | 231 |
GO:014001414 | Esophagus | ESCC | mitotic nuclear division | 218/8552 | 287/18723 | 6.17e-26 | 1.78e-23 | 218 |
GO:000007011 | Esophagus | ESCC | mitotic sister chromatid segregation | 138/8552 | 168/18723 | 1.37e-22 | 2.63e-20 | 138 |
GO:00008194 | Esophagus | ESCC | sister chromatid segregation | 157/8552 | 202/18723 | 8.41e-21 | 1.33e-18 | 157 |
GO:003304416 | Esophagus | ESCC | regulation of chromosome organization | 145/8552 | 187/18723 | 3.80e-19 | 4.31e-17 | 145 |
GO:000705911 | Esophagus | ESCC | chromosome segregation | 238/8552 | 346/18723 | 1.72e-18 | 1.82e-16 | 238 |
GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
GO:001050617 | Esophagus | ESCC | regulation of autophagy | 220/8552 | 317/18723 | 6.72e-18 | 6.36e-16 | 220 |
GO:000020917 | Esophagus | ESCC | protein polyubiquitination | 170/8552 | 236/18723 | 1.40e-16 | 1.09e-14 | 170 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
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 |
KLHL2 | SNV | Missense_Mutation | | c.359N>T | p.Thr120Ile | p.T120I | O95198 | protein_coding | deleterious(0.01) | possibly_damaging(0.461) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KLHL2 | deletion | Frame_Shift_Del | novel | c.20delN | p.Gln9ArgfsTer28 | p.Q9Rfs*28 | O95198 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
KLHL2 | SNV | Missense_Mutation | novel | c.575T>C | p.Val192Ala | p.V192A | O95198 | protein_coding | deleterious(0.03) | possibly_damaging(0.895) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
KLHL2 | SNV | Missense_Mutation | novel | c.1390C>T | p.Arg464Cys | p.R464C | O95198 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
KLHL2 | SNV | Missense_Mutation | | c.1525N>C | p.Asp509His | p.D509H | O95198 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-C5-A1BK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | | c.1170N>A | p.Met390Ile | p.M390I | O95198 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-C5-A1MK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
KLHL2 | SNV | Missense_Mutation | rs770856919 | c.905N>A | p.Arg302Gln | p.R302Q | O95198 | protein_coding | deleterious(0.05) | benign(0.285) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | | c.1237N>C | p.Asp413His | p.D413H | O95198 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | novel | c.1435G>C | p.Glu479Gln | p.E479Q | O95198 | protein_coding | tolerated(0.33) | benign(0.043) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | novel | c.726N>A | p.Met242Ile | p.M242I | O95198 | protein_coding | tolerated(0.12) | benign(0.026) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |