Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0048545210 | Thyroid | ATC | response to steroid hormone | 168/6293 | 339/18723 | 7.21e-10 | 1.88e-08 | 168 |
GO:0030522112 | Thyroid | ATC | intracellular receptor signaling pathway | 134/6293 | 265/18723 | 7.58e-09 | 1.63e-07 | 134 |
GO:0030177110 | Thyroid | ATC | positive regulation of Wnt signaling pathway | 80/6293 | 140/18723 | 8.75e-09 | 1.86e-07 | 80 |
GO:0006325110 | Thyroid | ATC | chromatin organization | 189/6293 | 409/18723 | 6.40e-08 | 1.13e-06 | 189 |
GO:005181721 | Thyroid | ATC | modulation of process of other organism involved in symbiotic interaction | 50/6293 | 81/18723 | 2.01e-07 | 3.17e-06 | 50 |
GO:007138328 | Thyroid | ATC | cellular response to steroid hormone stimulus | 103/6293 | 204/18723 | 4.32e-07 | 6.30e-06 | 103 |
GO:003051826 | Thyroid | ATC | intracellular steroid hormone receptor signaling pathway | 65/6293 | 116/18723 | 5.58e-07 | 7.93e-06 | 65 |
GO:001908322 | Thyroid | ATC | viral transcription | 33/6293 | 50/18723 | 2.83e-06 | 3.26e-05 | 33 |
GO:0043401111 | Thyroid | ATC | steroid hormone mediated signaling pathway | 71/6293 | 136/18723 | 5.72e-06 | 6.07e-05 | 71 |
GO:005185121 | Thyroid | ATC | modulation by host of symbiont process | 37/6293 | 60/18723 | 7.87e-06 | 8.04e-05 | 37 |
GO:003314316 | Thyroid | ATC | regulation of intracellular steroid hormone receptor signaling pathway | 43/6293 | 74/18723 | 1.30e-05 | 1.25e-04 | 43 |
GO:005109022 | Thyroid | ATC | regulation of DNA-binding transcription factor activity | 190/6293 | 440/18723 | 1.49e-05 | 1.39e-04 | 190 |
GO:004592622 | Thyroid | ATC | negative regulation of growth | 115/6293 | 249/18723 | 2.34e-05 | 2.06e-04 | 115 |
GO:003030813 | Thyroid | ATC | negative regulation of cell growth | 90/6293 | 188/18723 | 3.35e-05 | 2.78e-04 | 90 |
GO:003582121 | Thyroid | ATC | modulation of process of other organism | 55/6293 | 106/18723 | 7.71e-05 | 5.82e-04 | 55 |
GO:000974333 | Thyroid | ATC | response to carbohydrate | 114/6293 | 253/18723 | 9.26e-05 | 6.81e-04 | 114 |
GO:003052124 | Thyroid | ATC | androgen receptor signaling pathway | 27/6293 | 44/18723 | 1.49e-04 | 1.03e-03 | 27 |
GO:000635213 | Thyroid | ATC | DNA-templated transcription, initiation | 64/6293 | 130/18723 | 1.60e-04 | 1.10e-03 | 64 |
GO:003298619 | Thyroid | ATC | protein-DNA complex disassembly | 15/6293 | 20/18723 | 1.85e-04 | 1.25e-03 | 15 |
GO:003428432 | Thyroid | ATC | response to monosaccharide | 100/6293 | 225/18723 | 4.39e-04 | 2.62e-03 | 100 |
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 |
SMARCA4 | SNV | Missense_Mutation | | c.538N>T | p.Leu180Phe | p.L180F | P51532 | protein_coding | deleterious(0.02) | probably_damaging(0.992) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SMARCA4 | SNV | Missense_Mutation | | c.2402N>T | p.Arg801Leu | p.R801L | P51532 | protein_coding | deleterious(0.03) | possibly_damaging(0.9) | TCGA-A7-A26I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
SMARCA4 | SNV | Missense_Mutation | | c.4838G>A | p.Arg1613Gln | p.R1613Q | P51532 | protein_coding | tolerated_low_confidence(0.13) | benign(0.056) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SMARCA4 | SNV | Missense_Mutation | | c.2900G>A | p.Arg967His | p.R967H | P51532 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SMARCA4 | SNV | Missense_Mutation | rs751542188 | c.254N>T | p.Ser85Leu | p.S85L | P51532 | protein_coding | tolerated_low_confidence(0.3) | benign(0.001) | TCGA-B6-A0X5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
SMARCA4 | SNV | Missense_Mutation | | c.2644N>A | p.Glu882Lys | p.E882K | P51532 | protein_coding | deleterious(0.02) | possibly_damaging(0.881) | TCGA-C8-A12O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMARCA4 | SNV | Missense_Mutation | | c.3426N>A | p.Phe1142Leu | p.F1142L | P51532 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
SMARCA4 | SNV | Missense_Mutation | | c.4702G>A | p.Asp1568Asn | p.D1568N | P51532 | protein_coding | tolerated(0.3) | benign(0) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
SMARCA4 | SNV | Missense_Mutation | | c.3575G>A | p.Arg1192His | p.R1192H | P51532 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E9-A228-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SMARCA4 | insertion | Nonsense_Mutation | novel | c.3261_3262insTTGTATTTTTAGTAGAG | p.Ile1088LeufsTer4 | p.I1088Lfs*4 | P51532 | protein_coding | | | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
6597 | SMARCA4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR BINDING | inhibitor | 249565598 | | |
6597 | SMARCA4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR BINDING | | PALBOCICLIB | PALBOCICLIB | 30718512,30718506 |
6597 | SMARCA4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR BINDING | | TOZASERTIB | TOZASERTIB | 28102363 |
6597 | SMARCA4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR BINDING | | ABEMACICLIB | ABEMACICLIB | 30718512,30718506 |
6597 | SMARCA4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR BINDING | | TAZEMETOSTAT | TAZEMETOSTAT | 29650362 |
6597 | SMARCA4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR BINDING | | VINORELBINE | VINORELBINE | 26671993 |
6597 | SMARCA4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR BINDING | | RETINOIC ACID | | 9315656 |
6597 | SMARCA4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR BINDING | | RIBOCICLIB | RIBOCICLIB | 30718512 |
6597 | SMARCA4 | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR BINDING | | CISPLATIN | CISPLATIN | 26671993 |