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:007137511 | Liver | Cirrhotic | cellular response to peptide hormone stimulus | 110/4634 | 290/18723 | 3.73e-07 | 8.82e-06 | 110 |
GO:004873212 | Liver | Cirrhotic | gland development | 154/4634 | 436/18723 | 4.03e-07 | 9.42e-06 | 154 |
GO:003133012 | Liver | Cirrhotic | negative regulation of cellular catabolic process | 101/4634 | 262/18723 | 4.57e-07 | 1.05e-05 | 101 |
GO:190165311 | Liver | Cirrhotic | cellular response to peptide | 129/4634 | 359/18723 | 1.23e-06 | 2.49e-05 | 129 |
GO:003286911 | Liver | Cirrhotic | cellular response to insulin stimulus | 80/4634 | 203/18723 | 2.55e-06 | 4.63e-05 | 80 |
GO:004217712 | Liver | Cirrhotic | negative regulation of protein catabolic process | 51/4634 | 121/18723 | 1.93e-05 | 2.57e-04 | 51 |
GO:003286811 | Liver | Cirrhotic | response to insulin | 95/4634 | 264/18723 | 2.77e-05 | 3.54e-04 | 95 |
GO:00329846 | Liver | Cirrhotic | protein-containing complex disassembly | 82/4634 | 224/18723 | 4.78e-05 | 5.54e-04 | 82 |
GO:200005912 | Liver | Cirrhotic | negative regulation of ubiquitin-dependent protein catabolic process | 23/4634 | 48/18723 | 4.19e-04 | 3.45e-03 | 23 |
GO:00329864 | Liver | Cirrhotic | protein-DNA complex disassembly | 12/4634 | 20/18723 | 8.43e-04 | 6.12e-03 | 12 |
GO:000828611 | Liver | Cirrhotic | insulin receptor signaling pathway | 44/4634 | 116/18723 | 1.09e-03 | 7.59e-03 | 44 |
GO:190336311 | Liver | Cirrhotic | negative regulation of cellular protein catabolic process | 31/4634 | 75/18723 | 1.15e-03 | 7.84e-03 | 31 |
GO:00614585 | Liver | Cirrhotic | reproductive system development | 132/4634 | 427/18723 | 2.07e-03 | 1.28e-02 | 132 |
GO:00486085 | Liver | Cirrhotic | reproductive structure development | 131/4634 | 424/18723 | 2.19e-03 | 1.34e-02 | 131 |
GO:190305111 | Liver | Cirrhotic | negative regulation of proteolysis involved in cellular protein catabolic process | 26/4634 | 64/18723 | 3.69e-03 | 2.03e-02 | 26 |
GO:00063372 | Liver | Cirrhotic | nucleosome disassembly | 10/4634 | 18/18723 | 5.00e-03 | 2.59e-02 | 10 |
GO:003243511 | Liver | Cirrhotic | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 16/4634 | 35/18723 | 5.53e-03 | 2.80e-02 | 16 |
GO:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
GO:004316122 | Liver | HCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 299/7958 | 412/18723 | 7.82e-36 | 8.27e-33 | 299 |
GO:004217622 | Liver | HCC | regulation of protein catabolic process | 267/7958 | 391/18723 | 2.45e-25 | 7.38e-23 | 267 |
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 |