GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00516456 | Skin | cSCC | Golgi localization | 9/4864 | 14/18723 | 2.87e-03 | 1.60e-02 | 9 |
GO:00300111 | Skin | cSCC | maintenance of cell polarity | 11/4864 | 19/18723 | 3.17e-03 | 1.73e-02 | 11 |
GO:004800822 | Skin | cSCC | platelet-derived growth factor receptor signaling pathway | 24/4864 | 56/18723 | 4.44e-03 | 2.29e-02 | 24 |
GO:009016217 | Skin | cSCC | establishment of epithelial cell polarity | 15/4864 | 31/18723 | 6.02e-03 | 2.95e-02 | 15 |
GO:000173821 | Skin | cSCC | morphogenesis of a polarized epithelium | 35/4864 | 94/18723 | 1.05e-02 | 4.61e-02 | 35 |
GO:19026006 | Stomach | GC | proton transmembrane transport | 35/1159 | 157/18723 | 2.33e-11 | 5.06e-09 | 35 |
GO:00325285 | Stomach | GC | microvillus organization | 13/1159 | 24/18723 | 2.41e-10 | 3.75e-08 | 13 |
GO:20012336 | Stomach | GC | regulation of apoptotic signaling pathway | 52/1159 | 356/18723 | 6.61e-09 | 7.05e-07 | 52 |
GO:00971936 | Stomach | GC | intrinsic apoptotic signaling pathway | 43/1159 | 288/18723 | 7.09e-08 | 4.62e-06 | 43 |
GO:00226046 | Stomach | GC | regulation of cell morphogenesis | 44/1159 | 309/18723 | 2.01e-07 | 1.11e-05 | 44 |
GO:00300335 | Stomach | GC | microvillus assembly | 8/1159 | 16/18723 | 1.73e-06 | 7.78e-05 | 8 |
GO:20012426 | Stomach | GC | regulation of intrinsic apoptotic signaling pathway | 27/1159 | 164/18723 | 2.91e-06 | 1.23e-04 | 27 |
GO:00487326 | Stomach | GC | gland development | 49/1159 | 436/18723 | 3.88e-05 | 9.90e-04 | 49 |
GO:00020646 | Stomach | GC | epithelial cell development | 30/1159 | 220/18723 | 3.92e-05 | 9.90e-04 | 30 |
GO:00325355 | Stomach | GC | regulation of cellular component size | 44/1159 | 383/18723 | 5.66e-05 | 1.31e-03 | 44 |
GO:00083605 | Stomach | GC | regulation of cell shape | 23/1159 | 154/18723 | 7.52e-05 | 1.63e-03 | 23 |
GO:00071635 | Stomach | GC | establishment or maintenance of cell polarity | 28/1159 | 218/18723 | 1.98e-04 | 3.37e-03 | 28 |
GO:00158335 | Stomach | GC | peptide transport | 32/1159 | 264/18723 | 2.13e-04 | 3.61e-03 | 32 |
GO:00901624 | Stomach | GC | establishment of epithelial cell polarity | 8/1159 | 31/18723 | 4.61e-04 | 6.81e-03 | 8 |
GO:00428863 | Stomach | GC | amide transport | 34/1159 | 301/18723 | 5.16e-04 | 7.28e-03 | 34 |
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 |