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:003017724 | Skin | cSCC | positive regulation of Wnt signaling pathway | 55/4864 | 140/18723 | 3.72e-04 | 2.92e-03 | 55 |
GO:006076514 | Skin | cSCC | regulation of androgen receptor signaling pathway | 16/4864 | 28/18723 | 4.60e-04 | 3.50e-03 | 16 |
GO:003582115 | Skin | cSCC | modulation of process of other organism | 43/4864 | 106/18723 | 7.14e-04 | 5.03e-03 | 43 |
GO:005170216 | Skin | cSCC | biological process involved in interaction with symbiont | 39/4864 | 94/18723 | 7.37e-04 | 5.15e-03 | 39 |
GO:000974328 | Skin | cSCC | response to carbohydrate | 88/4864 | 253/18723 | 1.11e-03 | 7.31e-03 | 88 |
GO:003314413 | Skin | cSCC | negative regulation of intracellular steroid hormone receptor signaling pathway | 19/4864 | 38/18723 | 1.28e-03 | 8.22e-03 | 19 |
GO:003428427 | Skin | cSCC | response to monosaccharide | 79/4864 | 225/18723 | 1.43e-03 | 9.02e-03 | 79 |
GO:00427903 | Skin | cSCC | nucleolar large rRNA transcription by RNA polymerase I | 11/4864 | 18/18723 | 1.74e-03 | 1.06e-02 | 11 |
GO:001908313 | Skin | cSCC | viral transcription | 23/4864 | 50/18723 | 1.75e-03 | 1.06e-02 | 23 |
GO:19018382 | Skin | cSCC | positive regulation of transcription of nucleolar large rRNA by RNA polymerase I | 7/4864 | 10/18723 | 4.43e-03 | 2.29e-02 | 7 |
GO:19018362 | Skin | cSCC | regulation of transcription of nucleolar large rRNA by RNA polymerase I | 9/4864 | 15/18723 | 5.52e-03 | 2.73e-02 | 9 |
GO:0009746111 | Skin | cSCC | response to hexose | 74/4864 | 219/18723 | 5.94e-03 | 2.93e-02 | 74 |
GO:0061614110 | Skin | cSCC | pri-miRNA transcription by RNA polymerase II | 23/4864 | 55/18723 | 7.54e-03 | 3.53e-02 | 23 |
GO:0009749110 | Skin | cSCC | response to glucose | 71/4864 | 212/18723 | 8.71e-03 | 4.01e-02 | 71 |
GO:004392312 | Skin | cSCC | positive regulation by host of viral transcription | 9/4864 | 16/18723 | 9.73e-03 | 4.31e-02 | 9 |
GO:0016032113 | Thyroid | PTC | viral process | 236/5968 | 415/18723 | 2.48e-26 | 8.24e-24 | 236 |
GO:0022411113 | Thyroid | PTC | cellular component disassembly | 232/5968 | 443/18723 | 1.36e-19 | 1.75e-17 | 232 |
GO:0016055110 | Thyroid | PTC | Wnt signaling pathway | 217/5968 | 444/18723 | 3.71e-14 | 2.30e-12 | 217 |
GO:0198738110 | Thyroid | PTC | cell-cell signaling by wnt | 217/5968 | 446/18723 | 6.68e-14 | 3.73e-12 | 217 |
GO:0019080110 | Thyroid | PTC | viral gene expression | 65/5968 | 94/18723 | 1.25e-13 | 6.69e-12 | 65 |
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 |