Tissue | Expression Dynamics | Abbreviation |
Breast | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Breast/SMARCA4_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Becker/SMARCA4_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Chen/SMARCA4_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Endometrium/SMARCA4_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/SMARCA4_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/SMARCA4_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/SMARCA4_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/SMARCA4_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/SMARCA4_pca_on_diff_genes.png) | 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:00303086 | Skin | AK | negative regulation of cell growth | 32/1910 | 188/18723 | 2.63e-03 | 1.69e-02 | 32 |
GO:00439234 | Skin | AK | positive regulation by host of viral transcription | 6/1910 | 16/18723 | 3.63e-03 | 2.17e-02 | 6 |
GO:00190835 | Skin | AK | viral transcription | 12/1910 | 50/18723 | 3.74e-03 | 2.22e-02 | 12 |
GO:0071824 | Skin | AK | protein-DNA complex subunit organization | 38/1910 | 241/18723 | 4.43e-03 | 2.57e-02 | 38 |
GO:00459268 | Skin | AK | negative regulation of growth | 39/1910 | 249/18723 | 4.46e-03 | 2.58e-02 | 39 |
GO:00510919 | Skin | AK | positive regulation of DNA-binding transcription factor activity | 40/1910 | 260/18723 | 5.49e-03 | 3.03e-02 | 40 |
GO:00063524 | Skin | AK | DNA-templated transcription, initiation | 23/1910 | 130/18723 | 6.10e-03 | 3.29e-02 | 23 |
GO:001603229 | Skin | cSCC | viral process | 211/4864 | 415/18723 | 7.04e-28 | 2.76e-25 | 211 |
GO:0022411112 | Skin | cSCC | cellular component disassembly | 201/4864 | 443/18723 | 4.09e-19 | 5.69e-17 | 201 |
GO:004440328 | Skin | cSCC | biological process involved in symbiotic interaction | 126/4864 | 290/18723 | 6.39e-11 | 2.97e-09 | 126 |
GO:003298418 | Skin | cSCC | protein-containing complex disassembly | 98/4864 | 224/18723 | 5.31e-09 | 1.77e-07 | 98 |
GO:004854529 | Skin | cSCC | response to steroid hormone | 135/4864 | 339/18723 | 1.34e-08 | 4.09e-07 | 135 |
GO:001908019 | Skin | cSCC | viral gene expression | 50/4864 | 94/18723 | 1.68e-08 | 5.04e-07 | 50 |
GO:003052227 | Skin | cSCC | intracellular receptor signaling pathway | 108/4864 | 265/18723 | 9.21e-08 | 2.21e-06 | 108 |
GO:0030518110 | Skin | cSCC | intracellular steroid hormone receptor signaling pathway | 56/4864 | 116/18723 | 1.97e-07 | 4.28e-06 | 56 |
GO:001604925 | Skin | cSCC | cell growth | 173/4864 | 482/18723 | 7.21e-07 | 1.34e-05 | 173 |
GO:0071383111 | Skin | cSCC | cellular response to steroid hormone stimulus | 84/4864 | 204/18723 | 1.44e-06 | 2.48e-05 | 84 |
GO:00063565 | Skin | cSCC | regulation of transcription by RNA polymerase I | 22/4864 | 34/18723 | 2.33e-06 | 3.77e-05 | 22 |
GO:0043401110 | Skin | cSCC | steroid hormone mediated signaling pathway | 60/4864 | 136/18723 | 3.33e-06 | 5.10e-05 | 60 |
GO:001605524 | Skin | cSCC | Wnt signaling pathway | 158/4864 | 444/18723 | 3.80e-06 | 5.70e-05 | 158 |
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 |