GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:002241114 | Cervix | N_HPV | cellular component disassembly | 23/534 | 443/18723 | 4.41e-03 | 3.33e-02 | 23 |
GO:000641324 | Cervix | N_HPV | translational initiation | 9/534 | 118/18723 | 6.69e-03 | 4.48e-02 | 9 |
GO:0002181 | Colorectum | AD | cytoplasmic translation | 109/3918 | 148/18723 | 3.40e-43 | 2.13e-39 | 109 |
GO:0008380 | Colorectum | AD | RNA splicing | 169/3918 | 434/18723 | 3.59e-18 | 2.04e-15 | 169 |
GO:0072659 | Colorectum | AD | protein localization to plasma membrane | 122/3918 | 284/18723 | 2.86e-17 | 1.49e-14 | 122 |
GO:0007015 | Colorectum | AD | actin filament organization | 167/3918 | 442/18723 | 1.65e-16 | 7.94e-14 | 167 |
GO:0000377 | Colorectum | AD | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 130/3918 | 320/18723 | 5.88e-16 | 2.16e-13 | 130 |
GO:0000398 | Colorectum | AD | mRNA splicing, via spliceosome | 130/3918 | 320/18723 | 5.88e-16 | 2.16e-13 | 130 |
GO:0000375 | Colorectum | AD | RNA splicing, via transesterification reactions | 131/3918 | 324/18723 | 7.11e-16 | 2.22e-13 | 131 |
GO:0010498 | Colorectum | AD | proteasomal protein catabolic process | 174/3918 | 490/18723 | 3.18e-14 | 7.66e-12 | 174 |
GO:1990778 | Colorectum | AD | protein localization to cell periphery | 129/3918 | 333/18723 | 5.51e-14 | 1.15e-11 | 129 |
GO:0009895 | Colorectum | AD | negative regulation of catabolic process | 124/3918 | 320/18723 | 1.66e-13 | 3.35e-11 | 124 |
GO:1903829 | Colorectum | AD | positive regulation of cellular protein localization | 110/3918 | 276/18723 | 4.58e-13 | 8.44e-11 | 110 |
GO:0043484 | Colorectum | AD | regulation of RNA splicing | 70/3918 | 148/18723 | 6.47e-13 | 1.16e-10 | 70 |
GO:0022618 | Colorectum | AD | ribonucleoprotein complex assembly | 92/3918 | 220/18723 | 1.49e-12 | 2.60e-10 | 92 |
GO:0071826 | Colorectum | AD | ribonucleoprotein complex subunit organization | 94/3918 | 227/18723 | 1.70e-12 | 2.87e-10 | 94 |
GO:1902903 | Colorectum | AD | regulation of supramolecular fiber organization | 139/3918 | 383/18723 | 2.01e-12 | 3.19e-10 | 139 |
GO:0031330 | Colorectum | AD | negative regulation of cellular catabolic process | 104/3918 | 262/18723 | 2.66e-12 | 3.96e-10 | 104 |
GO:0032970 | Colorectum | AD | regulation of actin filament-based process | 142/3918 | 397/18723 | 4.05e-12 | 5.90e-10 | 142 |
GO:0110053 | Colorectum | AD | regulation of actin filament organization | 108/3918 | 278/18723 | 5.02e-12 | 6.98e-10 | 108 |
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 |
F5 | SNV | Missense_Mutation | novel | c.4241N>T | p.Asp1414Val | p.D1414V | P12259 | protein_coding | deleterious_low_confidence(0.04) | benign(0.209) | TCGA-A2-A4RW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | novel | c.3913N>G | p.Pro1305Ala | p.P1305A | P12259 | protein_coding | deleterious_low_confidence(0.03) | benign(0.265) | TCGA-A2-A4RW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | novel | c.1495C>A | p.Gln499Lys | p.Q499K | P12259 | protein_coding | deleterious(0.02) | possibly_damaging(0.541) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
F5 | SNV | Missense_Mutation | | c.6397N>T | p.Ile2133Leu | p.I2133L | P12259 | protein_coding | deleterious(0.02) | possibly_damaging(0.622) | TCGA-A8-A06Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | | c.6396N>T | p.Lys2132Asn | p.K2132N | P12259 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A8-A07L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | | CR |
F5 | SNV | Missense_Mutation | novel | c.4087N>A | p.His1363Asn | p.H1363N | P12259 | protein_coding | tolerated_low_confidence(0.14) | benign(0.023) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | novel | c.4086N>A | p.Ser1362Arg | p.S1362R | P12259 | protein_coding | tolerated_low_confidence(0.09) | benign(0.168) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | | c.622G>C | p.Asp208His | p.D208H | P12259 | protein_coding | tolerated(0.13) | benign(0.123) | TCGA-A8-A09G-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | | c.1447N>A | p.Tyr483Asn | p.Y483N | P12259 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A8-A09I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
F5 | SNV | Missense_Mutation | novel | c.5676N>C | p.Gln1892His | p.Q1892H | P12259 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-AC-A3BB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | CR |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
2153 | F5 | DRUGGABLE GENOME | | drotrecogin alfa | | 15118525 |
2153 | F5 | DRUGGABLE GENOME | | rivaroxaban | RIVAROXABAN | |
2153 | F5 | DRUGGABLE GENOME | | Rivaroxaban | RIVAROXABAN | |
2153 | F5 | DRUGGABLE GENOME | | estrogens | ESTRONE SODIUM SULFATE | 11532625,16113779,12067913,12869355,16301339,9459317,10073976,15467059,11859850,10943572,12069454,12138364,14551147,7968118,11703344 |
2153 | F5 | DRUGGABLE GENOME | | Drotrecogin alfa | | |
2153 | F5 | DRUGGABLE GENOME | | Eltrombopag | ELTROMBOPAG | |
2153 | F5 | DRUGGABLE GENOME | | DROTRECOGIN ALFA | | |
2153 | F5 | DRUGGABLE GENOME | | hormonal contraceptives for systemic use | | 11532625,16113779,15208046,15946211,12869355,16301339,9459317,10073976,15467059,11859850,10943572,12069454,16769590,12138364,14551147,7968118 |
2153 | F5 | DRUGGABLE GENOME | inhibitor | CHEMBL2109065 | DROTRECOGIN ALFA (ACTIVATED) | |
2153 | F5 | DRUGGABLE GENOME | | THROMBIN | THROMBIN | |