GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00971939 | Breast | Precancer | intrinsic apoptotic signaling pathway | 59/1080 | 288/18723 | 8.07e-18 | 3.60e-15 | 59 |
GO:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
GO:20012429 | Breast | Precancer | regulation of intrinsic apoptotic signaling pathway | 41/1080 | 164/18723 | 6.48e-16 | 2.31e-13 | 41 |
GO:19026008 | Breast | Precancer | proton transmembrane transport | 39/1080 | 157/18723 | 4.18e-15 | 1.18e-12 | 39 |
GO:20012445 | Breast | Precancer | positive regulation of intrinsic apoptotic signaling pathway | 17/1080 | 58/18723 | 1.59e-08 | 1.12e-06 | 17 |
GO:20012356 | Breast | Precancer | positive regulation of apoptotic signaling pathway | 24/1080 | 126/18723 | 1.98e-07 | 1.01e-05 | 24 |
GO:00487329 | Breast | Precancer | gland development | 49/1080 | 436/18723 | 6.11e-06 | 1.73e-04 | 49 |
GO:00702933 | Breast | Precancer | renal absorption | 6/1080 | 17/18723 | 2.59e-04 | 3.83e-03 | 6 |
GO:00085445 | Breast | Precancer | epidermis development | 35/1080 | 324/18723 | 2.71e-04 | 3.96e-03 | 35 |
GO:00099136 | Breast | Precancer | epidermal cell differentiation | 23/1080 | 202/18723 | 1.43e-03 | 1.50e-02 | 23 |
GO:00434912 | Breast | Precancer | protein kinase B signaling | 23/1080 | 211/18723 | 2.53e-03 | 2.30e-02 | 23 |
GO:00158336 | Breast | Precancer | peptide transport | 27/1080 | 264/18723 | 2.84e-03 | 2.49e-02 | 27 |
GO:00347673 | Breast | Precancer | positive regulation of ion transmembrane transport | 19/1080 | 167/18723 | 3.60e-03 | 2.98e-02 | 19 |
GO:00071638 | Breast | Precancer | establishment or maintenance of cell polarity | 23/1080 | 218/18723 | 3.82e-03 | 3.06e-02 | 23 |
GO:00109596 | Breast | Precancer | regulation of metal ion transport | 37/1080 | 406/18723 | 4.07e-03 | 3.22e-02 | 37 |
GO:00020649 | Breast | Precancer | epithelial cell development | 23/1080 | 220/18723 | 4.28e-03 | 3.35e-02 | 23 |
GO:00228985 | Breast | Precancer | regulation of transmembrane transporter activity | 27/1080 | 278/18723 | 5.72e-03 | 4.11e-02 | 27 |
GO:00226049 | Breast | Precancer | regulation of cell morphogenesis | 29/1080 | 309/18723 | 6.88e-03 | 4.67e-02 | 29 |
GO:200123314 | Breast | IDC | regulation of apoptotic signaling pathway | 82/1434 | 356/18723 | 6.27e-20 | 5.93e-17 | 82 |
GO:009719314 | Breast | IDC | intrinsic apoptotic signaling pathway | 69/1434 | 288/18723 | 6.32e-18 | 2.99e-15 | 69 |
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 |
SLC9A3 | SNV | Missense_Mutation | | c.2153N>T | p.Ser718Leu | p.S718L | P48764 | protein_coding | tolerated(0.06) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SLC9A3 | SNV | Missense_Mutation | | c.838A>C | p.Lys280Gln | p.K280Q | P48764 | protein_coding | deleterious(0.01) | probably_damaging(0.984) | TCGA-AR-A0TS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SLC9A3 | SNV | Missense_Mutation | | c.917N>G | p.Leu306Arg | p.L306R | P48764 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C8-A134-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
SLC9A3 | SNV | Missense_Mutation | | c.688G>A | p.Val230Met | p.V230M | P48764 | protein_coding | tolerated(0.25) | possibly_damaging(0.82) | TCGA-E9-A244-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SLC9A3 | deletion | Frame_Shift_Del | novel | c.978delN | p.Asn326LysfsTer14 | p.N326Kfs*14 | P48764 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
SLC9A3 | SNV | Missense_Mutation | novel | c.1250C>T | p.Ala417Val | p.A417V | P48764 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SLC9A3 | SNV | Missense_Mutation | rs755154955 | c.2048N>A | p.Arg683Gln | p.R683Q | P48764 | protein_coding | deleterious(0.03) | benign(0.129) | TCGA-EK-A2PM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC9A3 | SNV | Missense_Mutation | novel | c.782N>A | p.Gly261Asp | p.G261D | P48764 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-VS-A9UJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
SLC9A3 | insertion | Frame_Shift_Ins | novel | c.2031_2032insA | p.Ala678SerfsTer50 | p.A678Sfs*50 | P48764 | protein_coding | | | TCGA-DG-A2KH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SLC9A3 | SNV | Missense_Mutation | | c.287N>A | p.Gly96Asp | p.G96D | P48764 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
6550 | SLC9A3 | DRUGGABLE GENOME, TRANSPORTER, CELL SURFACE, EXCHANGER | | GLUCOCORTICOID | | 9727362 |
6550 | SLC9A3 | DRUGGABLE GENOME, TRANSPORTER, CELL SURFACE, EXCHANGER | | AZD1722 | | |
6550 | SLC9A3 | DRUGGABLE GENOME, TRANSPORTER, CELL SURFACE, EXCHANGER | inhibitor | CHEMBL2107782 | | |
6550 | SLC9A3 | DRUGGABLE GENOME, TRANSPORTER, CELL SURFACE, EXCHANGER | | AVE-0657 | | |
6550 | SLC9A3 | DRUGGABLE GENOME, TRANSPORTER, CELL SURFACE, EXCHANGER | | AZD1772//RDX5791 | | |
6550 | SLC9A3 | DRUGGABLE GENOME, TRANSPORTER, CELL SURFACE, EXCHANGER | inhibitor | CHEMBL3301627 | TENAPANOR HYDROCHLORIDE | |
6550 | SLC9A3 | DRUGGABLE GENOME, TRANSPORTER, CELL SURFACE, EXCHANGER | | RDX-5791 | TENAPANOR HYDROCHLORIDE | |
6550 | SLC9A3 | DRUGGABLE GENOME, TRANSPORTER, CELL SURFACE, EXCHANGER | | ALBUMIN | ALBUMIN HUMAN | 11251045,11698229 |