GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0010563 | Colorectum | AD | negative regulation of phosphorus metabolic process | 130/3918 | 442/18723 | 1.26e-05 | 2.76e-04 | 130 |
GO:0045936 | Colorectum | AD | negative regulation of phosphate metabolic process | 129/3918 | 441/18723 | 1.81e-05 | 3.76e-04 | 129 |
GO:0051348 | Colorectum | AD | negative regulation of transferase activity | 85/3918 | 268/18723 | 2.07e-05 | 4.19e-04 | 85 |
GO:0042326 | Colorectum | AD | negative regulation of phosphorylation | 112/3918 | 385/18723 | 8.02e-05 | 1.27e-03 | 112 |
GO:0001933 | Colorectum | AD | negative regulation of protein phosphorylation | 101/3918 | 342/18723 | 9.39e-05 | 1.42e-03 | 101 |
GO:0006469 | Colorectum | AD | negative regulation of protein kinase activity | 65/3918 | 212/18723 | 5.21e-04 | 5.62e-03 | 65 |
GO:0033673 | Colorectum | AD | negative regulation of kinase activity | 71/3918 | 237/18723 | 6.18e-04 | 6.47e-03 | 71 |
GO:0061099 | Colorectum | AD | negative regulation of protein tyrosine kinase activity | 13/3918 | 31/18723 | 6.53e-03 | 4.06e-02 | 13 |
GO:00513481 | Colorectum | SER | negative regulation of transferase activity | 70/2897 | 268/18723 | 4.27e-06 | 1.62e-04 | 70 |
GO:00105631 | Colorectum | SER | negative regulation of phosphorus metabolic process | 101/2897 | 442/18723 | 2.39e-05 | 6.70e-04 | 101 |
GO:00459361 | Colorectum | SER | negative regulation of phosphate metabolic process | 100/2897 | 441/18723 | 3.62e-05 | 9.39e-04 | 100 |
GO:00019331 | Colorectum | SER | negative regulation of protein phosphorylation | 79/2897 | 342/18723 | 1.21e-04 | 2.49e-03 | 79 |
GO:00423261 | Colorectum | SER | negative regulation of phosphorylation | 86/2897 | 385/18723 | 2.10e-04 | 3.78e-03 | 86 |
GO:00336731 | Colorectum | SER | negative regulation of kinase activity | 57/2897 | 237/18723 | 3.48e-04 | 5.46e-03 | 57 |
GO:00064691 | Colorectum | SER | negative regulation of protein kinase activity | 52/2897 | 212/18723 | 3.75e-04 | 5.74e-03 | 52 |
GO:00513482 | Colorectum | MSS | negative regulation of transferase activity | 80/3467 | 268/18723 | 4.06e-06 | 1.17e-04 | 80 |
GO:00105632 | Colorectum | MSS | negative regulation of phosphorus metabolic process | 118/3467 | 442/18723 | 1.18e-05 | 2.77e-04 | 118 |
GO:00459362 | Colorectum | MSS | negative regulation of phosphate metabolic process | 117/3467 | 441/18723 | 1.74e-05 | 3.84e-04 | 117 |
GO:00423262 | Colorectum | MSS | negative regulation of phosphorylation | 103/3467 | 385/18723 | 3.76e-05 | 7.17e-04 | 103 |
GO:00019332 | Colorectum | MSS | negative regulation of protein phosphorylation | 93/3467 | 342/18723 | 4.54e-05 | 8.35e-04 | 93 |
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 |
SH3BP5L | SNV | Missense_Mutation | | c.793N>A | p.Glu265Lys | p.E265K | Q7L8J4 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-E2-A1LG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SH3BP5L | insertion | Frame_Shift_Ins | novel | c.406_407insAGATGTGTGATGTGCTGACAGACAT | p.Arg136GlnfsTer28 | p.R136Qfs*28 | Q7L8J4 | protein_coding | | | TCGA-AO-A0JD-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
SH3BP5L | SNV | Missense_Mutation | | c.97G>A | p.Ala33Thr | p.A33T | Q7L8J4 | protein_coding | tolerated_low_confidence(0.54) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SH3BP5L | SNV | Missense_Mutation | novel | c.376N>A | p.Ala126Thr | p.A126T | Q7L8J4 | protein_coding | deleterious(0.03) | probably_damaging(0.986) | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SH3BP5L | SNV | Missense_Mutation | | c.665N>A | p.Ser222Asn | p.S222N | Q7L8J4 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
SH3BP5L | SNV | Missense_Mutation | rs755760884 | c.287C>T | p.Ala96Val | p.A96V | Q7L8J4 | protein_coding | tolerated(0.08) | benign(0.109) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SH3BP5L | SNV | Missense_Mutation | novel | c.4G>T | p.Ala2Ser | p.A2S | Q7L8J4 | protein_coding | tolerated_low_confidence(0.15) | benign(0.026) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
SH3BP5L | SNV | Missense_Mutation | novel | c.358N>T | p.Arg120Trp | p.R120W | Q7L8J4 | protein_coding | deleterious(0) | probably_damaging(0.94) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SH3BP5L | SNV | Missense_Mutation | novel | c.550G>A | p.Glu184Lys | p.E184K | Q7L8J4 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SH3BP5L | SNV | Missense_Mutation | | c.1016G>A | p.Arg339His | p.R339H | Q7L8J4 | protein_coding | deleterious(0.01) | benign(0.007) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |