GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001049810 | Cervix | CC | proteasomal protein catabolic process | 111/2311 | 490/18723 | 8.98e-11 | 1.58e-08 | 111 |
GO:004316110 | Cervix | CC | proteasome-mediated ubiquitin-dependent protein catabolic process | 91/2311 | 412/18723 | 1.65e-08 | 1.25e-06 | 91 |
GO:00002097 | Cervix | CC | protein polyubiquitination | 58/2311 | 236/18723 | 1.57e-07 | 7.41e-06 | 58 |
GO:00068927 | Cervix | CC | post-Golgi vesicle-mediated transport | 28/2311 | 104/18723 | 4.31e-05 | 6.61e-04 | 28 |
GO:00481938 | Cervix | CC | Golgi vesicle transport | 58/2311 | 296/18723 | 2.24e-04 | 2.54e-03 | 58 |
GO:19023059 | Cervix | CC | regulation of sodium ion transmembrane transport | 19/2311 | 68/18723 | 4.21e-04 | 4.25e-03 | 19 |
GO:00451043 | Cervix | CC | intermediate filament cytoskeleton organization | 15/2311 | 51/18723 | 9.25e-04 | 7.84e-03 | 15 |
GO:00451033 | Cervix | CC | intermediate filament-based process | 15/2311 | 52/18723 | 1.15e-03 | 9.39e-03 | 15 |
GO:00020288 | Cervix | CC | regulation of sodium ion transport | 21/2311 | 90/18723 | 2.71e-03 | 1.85e-02 | 21 |
GO:20006498 | Cervix | CC | regulation of sodium ion transmembrane transporter activity | 15/2311 | 58/18723 | 3.75e-03 | 2.38e-02 | 15 |
GO:00164827 | Cervix | CC | cytosolic transport | 33/2311 | 168/18723 | 4.43e-03 | 2.70e-02 | 33 |
GO:00518656 | Cervix | CC | protein autoubiquitination | 17/2311 | 73/18723 | 6.71e-03 | 3.70e-02 | 17 |
GO:0002028 | Colorectum | AD | regulation of sodium ion transport | 36/3918 | 90/18723 | 2.89e-05 | 5.37e-04 | 36 |
GO:1902305 | Colorectum | AD | regulation of sodium ion transmembrane transport | 27/3918 | 68/18723 | 3.19e-04 | 3.80e-03 | 27 |
GO:0051865 | Colorectum | AD | protein autoubiquitination | 28/3918 | 73/18723 | 4.87e-04 | 5.30e-03 | 28 |
GO:2000649 | Colorectum | AD | regulation of sodium ion transmembrane transporter activity | 23/3918 | 58/18723 | 8.82e-04 | 8.53e-03 | 23 |
GO:00020282 | Colorectum | MSS | regulation of sodium ion transport | 32/3467 | 90/18723 | 9.56e-05 | 1.50e-03 | 32 |
GO:19023052 | Colorectum | MSS | regulation of sodium ion transmembrane transport | 26/3467 | 68/18723 | 1.08e-04 | 1.68e-03 | 26 |
GO:20006492 | Colorectum | MSS | regulation of sodium ion transmembrane transporter activity | 22/3467 | 58/18723 | 4.06e-04 | 4.99e-03 | 22 |
GO:00518651 | Colorectum | MSS | protein autoubiquitination | 25/3467 | 73/18723 | 1.00e-03 | 1.00e-02 | 25 |
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 | novel | c.1613G>T | p.Arg538Ile | p.R538I | O95198 | protein_coding | deleterious(0.01) | probably_damaging(0.99) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | novel | c.1475N>T | p.Gly492Val | p.G492V | O95198 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | | c.154G>A | p.Glu52Lys | p.E52K | O95198 | protein_coding | tolerated(0.19) | possibly_damaging(0.506) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | | c.655T>G | p.Ser219Ala | p.S219A | O95198 | protein_coding | deleterious(0) | possibly_damaging(0.491) | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | | c.79N>T | p.Asp27Tyr | p.D27Y | O95198 | protein_coding | deleterious_low_confidence(0) | benign(0.328) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | | c.343N>C | p.Ile115Leu | p.I115L | O95198 | protein_coding | deleterious(0.04) | benign(0.084) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | novel | c.302N>C | p.Val101Ala | p.V101A | O95198 | protein_coding | deleterious(0) | possibly_damaging(0.626) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
KLHL2 | SNV | Missense_Mutation | novel | c.944N>C | p.Val315Ala | p.V315A | O95198 | protein_coding | tolerated(0.15) | probably_damaging(0.948) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
KLHL2 | SNV | Missense_Mutation | novel | c.1514N>C | p.Val505Ala | p.V505A | O95198 | protein_coding | tolerated(0.17) | benign(0.321) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
KLHL2 | SNV | Missense_Mutation | rs143711077 | c.70G>A | p.Asp24Asn | p.D24N | O95198 | protein_coding | tolerated_low_confidence(0.67) | benign(0) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |