GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00426981 | Endometrium | EEC | ovulation cycle | 19/2168 | 68/18723 | 1.84e-04 | 2.26e-03 | 19 |
GO:003629316 | Endometrium | EEC | response to decreased oxygen levels | 59/2168 | 322/18723 | 2.30e-04 | 2.73e-03 | 59 |
GO:005105111 | Endometrium | EEC | negative regulation of transport | 80/2168 | 470/18723 | 2.53e-04 | 2.93e-03 | 80 |
GO:007135615 | Endometrium | EEC | cellular response to tumor necrosis factor | 45/2168 | 229/18723 | 2.54e-04 | 2.94e-03 | 45 |
GO:003320912 | Endometrium | EEC | tumor necrosis factor-mediated signaling pathway | 24/2168 | 99/18723 | 3.12e-04 | 3.47e-03 | 24 |
GO:00465451 | Endometrium | EEC | development of primary female sexual characteristics | 24/2168 | 100/18723 | 3.66e-04 | 3.95e-03 | 24 |
GO:000166616 | Endometrium | EEC | response to hypoxia | 56/2168 | 307/18723 | 3.68e-04 | 3.96e-03 | 56 |
GO:003461215 | Endometrium | EEC | response to tumor necrosis factor | 48/2168 | 253/18723 | 3.77e-04 | 4.03e-03 | 48 |
GO:001095914 | Endometrium | EEC | regulation of metal ion transport | 70/2168 | 406/18723 | 4.12e-04 | 4.35e-03 | 70 |
GO:00085851 | Endometrium | EEC | female gonad development | 23/2168 | 95/18723 | 4.20e-04 | 4.40e-03 | 23 |
GO:00466601 | Endometrium | EEC | female sex differentiation | 26/2168 | 114/18723 | 4.99e-04 | 5.05e-03 | 26 |
GO:000268513 | Endometrium | EEC | regulation of leukocyte migration | 41/2168 | 210/18723 | 5.35e-04 | 5.38e-03 | 41 |
GO:000717914 | Endometrium | EEC | transforming growth factor beta receptor signaling pathway | 39/2168 | 198/18723 | 6.03e-04 | 5.98e-03 | 39 |
GO:007190212 | Endometrium | EEC | positive regulation of protein serine/threonine kinase activity | 39/2168 | 200/18723 | 7.39e-04 | 7.01e-03 | 39 |
GO:007190013 | Endometrium | EEC | regulation of protein serine/threonine kinase activity | 62/2168 | 359/18723 | 8.17e-04 | 7.61e-03 | 62 |
GO:006032613 | Endometrium | EEC | cell chemotaxis | 55/2168 | 310/18723 | 8.22e-04 | 7.63e-03 | 55 |
GO:004477213 | Endometrium | EEC | mitotic cell cycle phase transition | 71/2168 | 424/18723 | 8.68e-04 | 7.97e-03 | 71 |
GO:009006812 | Endometrium | EEC | positive regulation of cell cycle process | 44/2168 | 236/18723 | 9.39e-04 | 8.42e-03 | 44 |
GO:003059513 | Endometrium | EEC | leukocyte chemotaxis | 43/2168 | 230/18723 | 1.01e-03 | 8.89e-03 | 43 |
GO:003210313 | Endometrium | EEC | positive regulation of response to external stimulus | 71/2168 | 427/18723 | 1.06e-03 | 9.18e-03 | 71 |
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 |