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:00485459 | Breast | Precancer | response to steroid hormone | 53/1080 | 339/18723 | 3.07e-11 | 3.66e-09 | 53 |
GO:00160329 | Breast | Precancer | viral process | 58/1080 | 415/18723 | 3.42e-10 | 3.16e-08 | 58 |
GO:00444039 | Breast | Precancer | biological process involved in symbiotic interaction | 42/1080 | 290/18723 | 3.40e-08 | 2.11e-06 | 42 |
GO:00713838 | Breast | Precancer | cellular response to steroid hormone stimulus | 28/1080 | 204/18723 | 1.78e-05 | 4.26e-04 | 28 |
GO:00342849 | Breast | Precancer | response to monosaccharide | 29/1080 | 225/18723 | 4.19e-05 | 9.00e-04 | 29 |
GO:00097439 | Breast | Precancer | response to carbohydrate | 31/1080 | 253/18723 | 6.15e-05 | 1.25e-03 | 31 |
GO:00425938 | Breast | Precancer | glucose homeostasis | 31/1080 | 258/18723 | 8.89e-05 | 1.69e-03 | 31 |
GO:00335008 | Breast | Precancer | carbohydrate homeostasis | 31/1080 | 259/18723 | 9.56e-05 | 1.79e-03 | 31 |
GO:00305217 | Breast | Precancer | androgen receptor signaling pathway | 10/1080 | 44/18723 | 1.61e-04 | 2.69e-03 | 10 |
GO:00097469 | Breast | Precancer | response to hexose | 27/1080 | 219/18723 | 1.61e-04 | 2.69e-03 | 27 |
GO:00224119 | Breast | Precancer | cellular component disassembly | 44/1080 | 443/18723 | 3.17e-04 | 4.51e-03 | 44 |
GO:00097498 | Breast | Precancer | response to glucose | 25/1080 | 212/18723 | 5.46e-04 | 7.00e-03 | 25 |
GO:00160497 | Breast | Precancer | cell growth | 46/1080 | 482/18723 | 5.63e-04 | 7.16e-03 | 46 |
GO:00329865 | Breast | Precancer | protein-DNA complex disassembly | 6/1080 | 20/18723 | 6.99e-04 | 8.43e-03 | 6 |
GO:00016787 | Breast | Precancer | cellular glucose homeostasis | 21/1080 | 172/18723 | 9.38e-04 | 1.06e-02 | 21 |
GO:00305187 | Breast | Precancer | intracellular steroid hormone receptor signaling pathway | 16/1080 | 116/18723 | 1.01e-03 | 1.13e-02 | 16 |
GO:00713337 | Breast | Precancer | cellular response to glucose stimulus | 19/1080 | 151/18723 | 1.12e-03 | 1.23e-02 | 19 |
GO:00713228 | Breast | Precancer | cellular response to carbohydrate stimulus | 20/1080 | 163/18723 | 1.15e-03 | 1.26e-02 | 20 |
GO:00713317 | Breast | Precancer | cellular response to hexose stimulus | 19/1080 | 153/18723 | 1.31e-03 | 1.39e-02 | 19 |
GO:00713267 | Breast | Precancer | cellular response to monosaccharide stimulus | 19/1080 | 154/18723 | 1.42e-03 | 1.48e-02 | 19 |
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.2402N>A | p.Arg801His | p.R801H | P51532 | protein_coding | tolerated(0.06) | probably_damaging(0.963) | TCGA-AP-A0LT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMARCA4 | SNV | Missense_Mutation | novel | c.1397G>A | p.Arg466His | p.R466H | P51532 | protein_coding | deleterious(0.04) | probably_damaging(0.996) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMARCA4 | SNV | Missense_Mutation | novel | c.2055G>T | p.Glu685Asp | p.E685D | P51532 | protein_coding | tolerated(0.12) | benign(0.003) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMARCA4 | SNV | Missense_Mutation | | c.2758G>A | p.Glu920Lys | p.E920K | P51532 | protein_coding | deleterious(0.01) | probably_damaging(0.988) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMARCA4 | SNV | Missense_Mutation | rs763586264 | c.4098G>A | p.Met1366Ile | p.M1366I | P51532 | protein_coding | tolerated(0.82) | benign(0.003) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMARCA4 | SNV | Missense_Mutation | novel | c.4544N>A | p.Arg1515His | p.R1515H | P51532 | protein_coding | deleterious(0.03) | benign(0.185) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMARCA4 | SNV | Missense_Mutation | rs749059769 | c.1142N>A | p.Arg381Gln | p.R381Q | P51532 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
SMARCA4 | SNV | Missense_Mutation | novel | c.266N>A | p.Arg89His | p.R89H | P51532 | protein_coding | tolerated_low_confidence(0.56) | probably_damaging(0.964) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMARCA4 | SNV | Missense_Mutation | rs370466670 | c.3356N>A | p.Arg1119His | p.R1119H | P51532 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMARCA4 | SNV | Missense_Mutation | | c.4606N>A | p.Ala1536Thr | p.A1536T | P51532 | protein_coding | deleterious(0.04) | probably_damaging(0.912) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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 |