GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00715602 | Colorectum | CRC | cellular response to transforming growth factor beta stimulus | 49/2078 | 250/18723 | 5.17e-05 | 1.19e-03 | 49 |
GO:00991734 | Colorectum | CRC | postsynapse organization | 36/2078 | 168/18723 | 7.61e-05 | 1.59e-03 | 36 |
GO:00488132 | Colorectum | CRC | dendrite morphogenesis | 32/2078 | 146/18723 | 1.19e-04 | 2.33e-03 | 32 |
GO:00224115 | Colorectum | CRC | cellular component disassembly | 75/2078 | 443/18723 | 1.26e-04 | 2.42e-03 | 75 |
GO:00072192 | Colorectum | CRC | Notch signaling pathway | 36/2078 | 172/18723 | 1.26e-04 | 2.42e-03 | 36 |
GO:00071792 | Colorectum | CRC | transforming growth factor beta receptor signaling pathway | 39/2078 | 198/18723 | 2.58e-04 | 4.19e-03 | 39 |
GO:00303074 | Colorectum | CRC | positive regulation of cell growth | 34/2078 | 166/18723 | 2.94e-04 | 4.67e-03 | 34 |
GO:00508084 | Colorectum | CRC | synapse organization | 71/2078 | 426/18723 | 3.02e-04 | 4.76e-03 | 71 |
GO:00072291 | Colorectum | CRC | integrin-mediated signaling pathway | 24/2078 | 107/18723 | 5.65e-04 | 7.79e-03 | 24 |
GO:00900921 | Colorectum | CRC | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 46/2078 | 256/18723 | 6.66e-04 | 8.77e-03 | 46 |
GO:00609972 | Colorectum | CRC | dendritic spine morphogenesis | 16/2078 | 61/18723 | 7.76e-04 | 9.87e-03 | 16 |
GO:00990723 | Colorectum | CRC | regulation of postsynaptic membrane neurotransmitter receptor levels | 16/2078 | 62/18723 | 9.40e-04 | 1.15e-02 | 16 |
GO:00609962 | Colorectum | CRC | dendritic spine development | 22/2078 | 99/18723 | 1.07e-03 | 1.25e-02 | 22 |
GO:00610012 | Colorectum | CRC | regulation of dendritic spine morphogenesis | 13/2078 | 47/18723 | 1.39e-03 | 1.52e-02 | 13 |
GO:00303231 | Colorectum | CRC | respiratory tube development | 34/2078 | 181/18723 | 1.47e-03 | 1.57e-02 | 34 |
GO:0008593 | Colorectum | CRC | regulation of Notch signaling pathway | 21/2078 | 95/18723 | 1.48e-03 | 1.58e-02 | 21 |
GO:00170151 | Colorectum | CRC | regulation of transforming growth factor beta receptor signaling pathway | 26/2078 | 128/18723 | 1.63e-03 | 1.70e-02 | 26 |
GO:00604281 | Colorectum | CRC | lung epithelium development | 11/2078 | 37/18723 | 1.69e-03 | 1.75e-02 | 11 |
GO:00303241 | Colorectum | CRC | lung development | 33/2078 | 177/18723 | 1.94e-03 | 1.96e-02 | 33 |
GO:19038441 | Colorectum | CRC | regulation of cellular response to transforming growth factor beta stimulus | 26/2078 | 131/18723 | 2.29e-03 | 2.20e-02 | 26 |
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 |
ADA | SNV | Missense_Mutation | | c.217N>A | p.Ala73Thr | p.A73T | P00813 | protein_coding | deleterious(0.01) | benign(0.386) | TCGA-A2-A0CM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | PD |
ADA | SNV | Missense_Mutation | rs748974674 | c.935N>G | p.Lys312Arg | p.K312R | P00813 | protein_coding | tolerated(0.15) | benign(0.007) | TCGA-A8-A08O-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | PD |
ADA | SNV | Missense_Mutation | rs121908721 | c.872N>T | p.Ser291Leu | p.S291L | P00813 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C8-A1HE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ADA | insertion | Frame_Shift_Ins | novel | c.1006_1007insTGGGTACTACAAGTTG | p.Pro336LeufsTer9 | p.P336Lfs*9 | P00813 | protein_coding | | | TCGA-A7-A0D9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
ADA | insertion | Frame_Shift_Ins | novel | c.946_947insT | p.Gly316ValfsTer4 | p.G316Vfs*4 | P00813 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
ADA | insertion | Nonsense_Mutation | novel | c.944_945insCCCAGGCTGAATAAGTCCATTCCTGCACGTGTCTGCGA | p.Met315IlefsTer4 | p.M315Ifs*4 | P00813 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
ADA | SNV | Missense_Mutation | | c.347C>T | p.Pro116Leu | p.P116L | P00813 | protein_coding | deleterious(0.01) | possibly_damaging(0.614) | TCGA-EX-A69L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ADA | SNV | Missense_Mutation | novel | c.340N>A | p.Pro114Thr | p.P114T | P00813 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-ZJ-AAX4-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
ADA | SNV | Missense_Mutation | | c.824N>G | p.Asp275Gly | p.D275G | P00813 | protein_coding | tolerated(0.15) | benign(0.045) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ADA | SNV | Missense_Mutation | | c.754N>A | p.Leu252Met | p.L252M | P00813 | protein_coding | deleterious(0.05) | probably_damaging(0.987) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
100 | ADA | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE | | 2,3-DIDEOXYADENOSINE | | 3496090 |
100 | ADA | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE | | PENTOSTATIN | PENTOSTATIN | |
100 | ADA | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE | | DIPYRIDAMOLE | DIPYRIDAMOLE | |
100 | ADA | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE | inhibitor | 178101507 | PENTOSTATIN | |
100 | ADA | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE | | 6-METHYLMERCAPTOPURINE RIBOSIDE | | 10102 |
100 | ADA | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE | | Ex vivo adenosine deaminase-transduced hematopoietic stem cell therapy | | |
100 | ADA | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE | | HYDROCORTISONE | HYDROCORTISONE | 2395837 |
100 | ADA | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE | | Pentostatin | PENTOSTATIN | |
100 | ADA | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE | | CORDYCEPIN | CORDYCEPIN | 24283924 |
100 | ADA | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE | | COBALT | | 9144774 |