Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/SMARCC1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/SMARCC1_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/SMARCC1_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/SMARCC1_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/SMARCC1_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/SMARCC1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/SMARCC1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/SMARCC1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/SMARCC1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/SMARCC1_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/SMARCC1_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:200005933 | Oral cavity | NEOLP | negative regulation of ubiquitin-dependent protein catabolic process | 14/2005 | 48/18723 | 3.56e-04 | 3.41e-03 | 14 |
GO:004217732 | Oral cavity | NEOLP | negative regulation of protein catabolic process | 25/2005 | 121/18723 | 9.29e-04 | 7.20e-03 | 25 |
GO:003085021 | Oral cavity | NEOLP | prostate gland development | 12/2005 | 45/18723 | 2.17e-03 | 1.42e-02 | 12 |
GO:000828622 | Oral cavity | NEOLP | insulin receptor signaling pathway | 23/2005 | 116/18723 | 2.56e-03 | 1.61e-02 | 23 |
GO:190305132 | Oral cavity | NEOLP | negative regulation of proteolysis involved in cellular protein catabolic process | 15/2005 | 64/18723 | 2.63e-03 | 1.65e-02 | 15 |
GO:190336332 | Oral cavity | NEOLP | negative regulation of cellular protein catabolic process | 16/2005 | 75/18723 | 5.24e-03 | 2.81e-02 | 16 |
GO:003243522 | Oral cavity | NEOLP | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 9/2005 | 35/18723 | 9.72e-03 | 4.55e-02 | 9 |
GO:004217618 | Prostate | BPH | regulation of protein catabolic process | 139/3107 | 391/18723 | 3.71e-20 | 3.28e-17 | 139 |
GO:001049818 | Prostate | BPH | proteasomal protein catabolic process | 153/3107 | 490/18723 | 4.13e-16 | 7.51e-14 | 153 |
GO:190336218 | Prostate | BPH | regulation of cellular protein catabolic process | 93/3107 | 255/18723 | 1.06e-14 | 1.40e-12 | 93 |
GO:004316118 | Prostate | BPH | proteasome-mediated ubiquitin-dependent protein catabolic process | 127/3107 | 412/18723 | 3.84e-13 | 3.60e-11 | 127 |
GO:200005818 | Prostate | BPH | regulation of ubiquitin-dependent protein catabolic process | 66/3107 | 164/18723 | 4.20e-13 | 3.88e-11 | 66 |
GO:190305018 | Prostate | BPH | regulation of proteolysis involved in cellular protein catabolic process | 80/3107 | 221/18723 | 1.20e-12 | 1.02e-10 | 80 |
GO:006145810 | Prostate | BPH | reproductive system development | 126/3107 | 427/18723 | 1.35e-11 | 9.95e-10 | 126 |
GO:004860810 | Prostate | BPH | reproductive structure development | 124/3107 | 424/18723 | 3.76e-11 | 2.43e-09 | 124 |
GO:003243418 | Prostate | BPH | regulation of proteasomal ubiquitin-dependent protein catabolic process | 54/3107 | 134/18723 | 5.22e-11 | 3.29e-09 | 54 |
GO:006113618 | Prostate | BPH | regulation of proteasomal protein catabolic process | 67/3107 | 187/18723 | 1.34e-10 | 7.74e-09 | 67 |
GO:004873218 | Prostate | BPH | gland development | 122/3107 | 436/18723 | 1.13e-09 | 5.01e-08 | 122 |
GO:190165310 | Prostate | BPH | cellular response to peptide | 104/3107 | 359/18723 | 2.51e-09 | 1.00e-07 | 104 |
GO:002241117 | Prostate | BPH | cellular component disassembly | 121/3107 | 443/18723 | 6.34e-09 | 2.25e-07 | 121 |
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 |
SMARCC1 | SNV | Missense_Mutation | novel | c.2650N>A | p.Leu884Met | p.L884M | Q92922 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
SMARCC1 | SNV | Missense_Mutation | rs746452222 | c.2171N>A | p.Arg724Gln | p.R724Q | Q92922 | protein_coding | tolerated(0.09) | benign(0.428) | TCGA-A7-A5ZX-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR |
SMARCC1 | SNV | Missense_Mutation | novel | c.2489N>T | p.Ser830Leu | p.S830L | Q92922 | protein_coding | tolerated(0.22) | benign(0.065) | TCGA-AC-A3W6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SMARCC1 | SNV | Missense_Mutation | | c.2023N>A | p.Asp675Asn | p.D675N | Q92922 | protein_coding | tolerated(0.21) | benign(0.054) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SMARCC1 | SNV | Missense_Mutation | novel | c.1446N>C | p.Lys482Asn | p.K482N | Q92922 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMARCC1 | SNV | Missense_Mutation | | c.2332N>C | p.Glu778Gln | p.E778Q | Q92922 | protein_coding | tolerated(0.2) | benign(0.022) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
SMARCC1 | SNV | Missense_Mutation | rs779824613 | c.2602A>C | p.Thr868Pro | p.T868P | Q92922 | protein_coding | deleterious(0) | possibly_damaging(0.905) | TCGA-BH-A0HU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
SMARCC1 | SNV | Missense_Mutation | | c.1561G>T | p.Ala521Ser | p.A521S | Q92922 | protein_coding | tolerated(0.11) | possibly_damaging(0.895) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
SMARCC1 | SNV | Missense_Mutation | | c.2506N>A | p.Glu836Lys | p.E836K | Q92922 | protein_coding | tolerated(0.21) | benign(0.015) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMARCC1 | SNV | Missense_Mutation | novel | c.3277N>G | p.Pro1093Ala | p.P1093A | Q92922 | protein_coding | tolerated_low_confidence(0.09) | benign(0.068) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |