GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00017389 | Thyroid | PTC | morphogenesis of a polarized epithelium | 41/5968 | 94/18723 | 1.10e-02 | 4.38e-02 | 41 |
GO:00518969 | Thyroid | PTC | regulation of protein kinase B signaling | 74/5968 | 185/18723 | 1.16e-02 | 4.58e-02 | 74 |
GO:200123335 | Thyroid | ATC | regulation of apoptotic signaling pathway | 206/6293 | 356/18723 | 2.81e-21 | 5.92e-19 | 206 |
GO:009719335 | Thyroid | ATC | intrinsic apoptotic signaling pathway | 171/6293 | 288/18723 | 1.86e-19 | 2.67e-17 | 171 |
GO:001605525 | Thyroid | ATC | Wnt signaling pathway | 234/6293 | 444/18723 | 4.64e-17 | 4.31e-15 | 234 |
GO:019873825 | Thyroid | ATC | cell-cell signaling by wnt | 234/6293 | 446/18723 | 9.26e-17 | 8.25e-15 | 234 |
GO:000734622 | Thyroid | ATC | regulation of mitotic cell cycle | 236/6293 | 457/18723 | 7.58e-16 | 5.92e-14 | 236 |
GO:007265928 | Thyroid | ATC | protein localization to plasma membrane | 161/6293 | 284/18723 | 8.45e-16 | 6.52e-14 | 161 |
GO:002260429 | Thyroid | ATC | regulation of cell morphogenesis | 171/6293 | 309/18723 | 2.36e-15 | 1.70e-13 | 171 |
GO:005165625 | Thyroid | ATC | establishment of organelle localization | 206/6293 | 390/18723 | 2.62e-15 | 1.84e-13 | 206 |
GO:199077826 | Thyroid | ATC | protein localization to cell periphery | 181/6293 | 333/18723 | 3.72e-15 | 2.56e-13 | 181 |
GO:200124233 | Thyroid | ATC | regulation of intrinsic apoptotic signaling pathway | 103/6293 | 164/18723 | 1.67e-14 | 9.77e-13 | 103 |
GO:003011125 | Thyroid | ATC | regulation of Wnt signaling pathway | 177/6293 | 328/18723 | 1.83e-14 | 1.05e-12 | 177 |
GO:000716329 | Thyroid | ATC | establishment or maintenance of cell polarity | 122/6293 | 218/18723 | 8.46e-12 | 3.16e-10 | 122 |
GO:003253526 | Thyroid | ATC | regulation of cellular component size | 191/6293 | 383/18723 | 2.51e-11 | 8.69e-10 | 191 |
GO:000836026 | Thyroid | ATC | regulation of cell shape | 91/6293 | 154/18723 | 7.33e-11 | 2.31e-09 | 91 |
GO:006082825 | Thyroid | ATC | regulation of canonical Wnt signaling pathway | 134/6293 | 253/18723 | 1.49e-10 | 4.56e-09 | 134 |
GO:004873233 | Thyroid | ATC | gland development | 210/6293 | 436/18723 | 1.50e-10 | 4.59e-09 | 210 |
GO:006007025 | Thyroid | ATC | canonical Wnt signaling pathway | 154/6293 | 303/18723 | 3.68e-10 | 1.02e-08 | 154 |
GO:200123528 | Thyroid | ATC | positive regulation of apoptotic signaling pathway | 73/6293 | 126/18723 | 1.74e-08 | 3.47e-07 | 73 |
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 |