GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00003775 | Colorectum | CRC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 66/2078 | 320/18723 | 4.39e-07 | 3.37e-05 | 66 |
GO:00003985 | Colorectum | CRC | mRNA splicing, via spliceosome | 66/2078 | 320/18723 | 4.39e-07 | 3.37e-05 | 66 |
GO:20006495 | Colorectum | CRC | regulation of sodium ion transmembrane transporter activity | 21/2078 | 58/18723 | 4.58e-07 | 3.39e-05 | 21 |
GO:00516564 | Colorectum | CRC | establishment of organelle localization | 76/2078 | 390/18723 | 6.53e-07 | 4.50e-05 | 76 |
GO:00003755 | Colorectum | CRC | RNA splicing, via transesterification reactions | 66/2078 | 324/18723 | 7.00e-07 | 4.61e-05 | 66 |
GO:00434875 | Colorectum | CRC | regulation of RNA stability | 41/2078 | 170/18723 | 1.13e-06 | 6.69e-05 | 41 |
GO:00307054 | Colorectum | CRC | cytoskeleton-dependent intracellular transport | 45/2078 | 195/18723 | 1.29e-06 | 7.21e-05 | 45 |
GO:00615644 | Colorectum | CRC | axon development | 86/2078 | 467/18723 | 1.48e-06 | 8.12e-05 | 86 |
GO:00107655 | Colorectum | CRC | positive regulation of sodium ion transport | 15/2078 | 35/18723 | 1.69e-06 | 8.71e-05 | 15 |
GO:00516504 | Colorectum | CRC | establishment of vesicle localization | 39/2078 | 161/18723 | 1.82e-06 | 9.07e-05 | 39 |
GO:00610085 | Colorectum | CRC | hepaticobiliary system development | 37/2078 | 150/18723 | 2.09e-06 | 1.02e-04 | 37 |
GO:00512225 | Colorectum | CRC | positive regulation of protein transport | 61/2078 | 303/18723 | 2.73e-06 | 1.27e-04 | 61 |
GO:00226185 | Colorectum | CRC | ribonucleoprotein complex assembly | 48/2078 | 220/18723 | 3.16e-06 | 1.44e-04 | 48 |
GO:00516484 | Colorectum | CRC | vesicle localization | 41/2078 | 177/18723 | 3.39e-06 | 1.50e-04 | 41 |
GO:00018895 | Colorectum | CRC | liver development | 36/2078 | 147/18723 | 3.41e-06 | 1.50e-04 | 36 |
GO:00718265 | Colorectum | CRC | ribonucleoprotein complex subunit organization | 49/2078 | 227/18723 | 3.44e-06 | 1.51e-04 | 49 |
GO:00323885 | Colorectum | CRC | positive regulation of intracellular transport | 45/2078 | 202/18723 | 3.54e-06 | 1.54e-04 | 45 |
GO:00434344 | Colorectum | CRC | response to peptide hormone | 76/2078 | 414/18723 | 6.67e-06 | 2.56e-04 | 76 |
GO:00228982 | Colorectum | CRC | regulation of transmembrane transporter activity | 56/2078 | 278/18723 | 6.75e-06 | 2.58e-04 | 56 |
GO:19049515 | Colorectum | CRC | positive regulation of establishment of protein localization | 62/2078 | 319/18723 | 7.44e-06 | 2.72e-04 | 62 |
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 | |