Tissue | Expression Dynamics | Abbreviation |
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/SMC1A_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/SMC1A_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/SMC1A_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/SMC1A_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/SMC1A_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/SMC1A_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/SMC1A_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:190285021 | Oral cavity | NEOLP | microtubule cytoskeleton organization involved in mitosis | 27/2005 | 147/18723 | 3.60e-03 | 2.11e-02 | 27 |
GO:000705131 | Oral cavity | NEOLP | spindle organization | 32/2005 | 184/18723 | 3.95e-03 | 2.26e-02 | 32 |
GO:000706221 | Oral cavity | NEOLP | sister chromatid cohesion | 14/2005 | 62/18723 | 5.15e-03 | 2.78e-02 | 14 |
GO:000706421 | Oral cavity | NEOLP | mitotic sister chromatid cohesion | 8/2005 | 28/18723 | 7.44e-03 | 3.73e-02 | 8 |
GO:000705221 | Oral cavity | NEOLP | mitotic spindle organization | 22/2005 | 120/18723 | 8.23e-03 | 4.04e-02 | 22 |
GO:00198278 | Skin | AK | stem cell population maintenance | 37/1910 | 131/18723 | 5.65e-09 | 4.03e-07 | 37 |
GO:00987279 | Skin | AK | maintenance of cell number | 37/1910 | 134/18723 | 1.10e-08 | 7.11e-07 | 37 |
GO:000931420 | Skin | AK | response to radiation | 78/1910 | 456/18723 | 3.32e-06 | 8.59e-05 | 78 |
GO:00070594 | Skin | AK | chromosome segregation | 60/1910 | 346/18723 | 2.88e-05 | 4.98e-04 | 60 |
GO:00070519 | Skin | AK | spindle organization | 37/1910 | 184/18723 | 4.21e-05 | 6.70e-04 | 37 |
GO:00008195 | Skin | AK | sister chromatid segregation | 37/1910 | 202/18723 | 3.10e-04 | 3.19e-03 | 37 |
GO:00903078 | Skin | AK | mitotic spindle assembly | 16/1910 | 65/18723 | 6.54e-04 | 5.64e-03 | 16 |
GO:00512257 | Skin | AK | spindle assembly | 24/1910 | 117/18723 | 6.54e-04 | 5.64e-03 | 24 |
GO:19028508 | Skin | AK | microtubule cytoskeleton organization involved in mitosis | 28/1910 | 147/18723 | 8.48e-04 | 7.02e-03 | 28 |
GO:00070528 | Skin | AK | mitotic spindle organization | 24/1910 | 120/18723 | 9.53e-04 | 7.64e-03 | 24 |
GO:00070628 | Skin | AK | sister chromatid cohesion | 14/1910 | 62/18723 | 3.32e-03 | 2.03e-02 | 14 |
GO:01400147 | Skin | AK | mitotic nuclear division | 44/1910 | 287/18723 | 3.98e-03 | 2.34e-02 | 44 |
GO:00000704 | Skin | AK | mitotic sister chromatid segregation | 28/1910 | 168/18723 | 6.30e-03 | 3.38e-02 | 28 |
GO:00988134 | Skin | AK | nuclear chromosome segregation | 42/1910 | 281/18723 | 7.50e-03 | 3.82e-02 | 42 |
GO:014001415 | Skin | cSCC | mitotic nuclear division | 149/4864 | 287/18723 | 3.59e-21 | 6.43e-19 | 149 |
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 |
SMC1A | SNV | Missense_Mutation | | c.868N>C | p.Glu290Gln | p.E290Q | Q14683 | protein_coding | tolerated(0.36) | possibly_damaging(0.796) | TCGA-A8-A0A9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
SMC1A | SNV | Missense_Mutation | novel | c.1260G>T | p.Lys420Asn | p.K420N | Q14683 | protein_coding | tolerated(0.94) | benign(0.247) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMC1A | SNV | Missense_Mutation | novel | c.1142N>T | p.Glu381Val | p.E381V | Q14683 | protein_coding | tolerated(0.08) | benign(0.377) | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMC1A | SNV | Missense_Mutation | | c.2795N>A | p.Ala932Asp | p.A932D | Q14683 | protein_coding | tolerated(1) | benign(0.079) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
SMC1A | SNV | Missense_Mutation | novel | c.2174G>A | p.Arg725Gln | p.R725Q | Q14683 | protein_coding | tolerated(0.12) | benign(0.024) | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMC1A | SNV | Missense_Mutation | | c.2714T>A | p.Met905Lys | p.M905K | Q14683 | protein_coding | deleterious(0) | benign(0.03) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMC1A | SNV | Missense_Mutation | | c.884N>A | p.Arg295Gln | p.R295Q | Q14683 | protein_coding | deleterious(0.03) | benign(0.031) | TCGA-E2-A154-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SMC1A | SNV | Missense_Mutation | rs782175064 | c.3592G>A | p.Glu1198Lys | p.E1198K | Q14683 | protein_coding | deleterious(0) | benign(0.022) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
SMC1A | SNV | Missense_Mutation | novel | c.1248G>C | p.Glu416Asp | p.E416D | Q14683 | protein_coding | tolerated(0.1) | benign(0.166) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
SMC1A | insertion | Nonsense_Mutation | novel | c.1339_1340insTCGGAGAGGTTTAAAAAAGCACCGCTTCTAAGAG | p.Gln447LeufsTer5 | p.Q447Lfs*5 | Q14683 | protein_coding | | | TCGA-A8-A08Z-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |