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/SMC6_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/SMC6_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/SMC6_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/SMC6_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/SMC6_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/SMC6_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/SMC6_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:0031331110 | Oral cavity | LP | positive regulation of cellular catabolic process | 163/4623 | 427/18723 | 3.03e-10 | 1.59e-08 | 163 |
GO:0043254110 | Oral cavity | LP | regulation of protein-containing complex assembly | 163/4623 | 428/18723 | 3.72e-10 | 1.92e-08 | 163 |
GO:1903364110 | Oral cavity | LP | positive regulation of cellular protein catabolic process | 72/4623 | 155/18723 | 2.93e-09 | 1.28e-07 | 72 |
GO:190180019 | Oral cavity | LP | positive regulation of proteasomal protein catabolic process | 57/4623 | 114/18723 | 4.56e-09 | 1.91e-07 | 57 |
GO:0031334110 | Oral cavity | LP | positive regulation of protein-containing complex assembly | 99/4623 | 237/18723 | 4.83e-09 | 2.00e-07 | 99 |
GO:190305218 | Oral cavity | LP | positive regulation of proteolysis involved in cellular protein catabolic process | 61/4623 | 133/18723 | 8.17e-08 | 2.72e-06 | 61 |
GO:000072317 | Oral cavity | LP | telomere maintenance | 59/4623 | 131/18723 | 2.88e-07 | 8.56e-06 | 59 |
GO:000756819 | Oral cavity | LP | aging | 125/4623 | 339/18723 | 3.29e-07 | 9.62e-06 | 125 |
GO:00070591 | Oral cavity | LP | chromosome segregation | 117/4623 | 346/18723 | 7.61e-05 | 9.91e-04 | 117 |
GO:009008315 | Oral cavity | LP | regulation of inclusion body assembly | 12/4623 | 17/18723 | 8.70e-05 | 1.10e-03 | 12 |
GO:003220013 | Oral cavity | LP | telomere organization | 59/4623 | 159/18723 | 3.21e-04 | 3.25e-03 | 59 |
GO:007084117 | Oral cavity | LP | inclusion body assembly | 14/4623 | 24/18723 | 4.52e-04 | 4.30e-03 | 14 |
GO:000636711 | Oral cavity | LP | transcription initiation from RNA polymerase II promoter | 31/4623 | 77/18723 | 1.83e-03 | 1.38e-02 | 31 |
GO:007089711 | Oral cavity | LP | transcription preinitiation complex assembly | 17/4623 | 36/18723 | 2.74e-03 | 1.92e-02 | 17 |
GO:20001441 | Oral cavity | LP | positive regulation of DNA-templated transcription, initiation | 15/4623 | 31/18723 | 3.59e-03 | 2.39e-02 | 15 |
GO:200014211 | Oral cavity | LP | regulation of DNA-templated transcription, initiation | 18/4623 | 40/18723 | 4.00e-03 | 2.59e-02 | 18 |
GO:000756914 | Oral cavity | LP | cell aging | 46/4623 | 132/18723 | 5.64e-03 | 3.40e-02 | 46 |
GO:000630211 | Oral cavity | LP | double-strand break repair | 80/4623 | 251/18723 | 5.81e-03 | 3.46e-02 | 80 |
GO:00063521 | Oral cavity | LP | DNA-templated transcription, initiation | 45/4623 | 130/18723 | 7.03e-03 | 3.96e-02 | 45 |
GO:006026011 | Oral cavity | LP | regulation of transcription initiation from RNA polymerase II promoter | 15/4623 | 33/18723 | 7.43e-03 | 4.13e-02 | 15 |
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 |
SMC6 | SNV | Missense_Mutation | novel | c.179N>T | p.Ser60Leu | p.S60L | Q96SB8 | protein_coding | deleterious(0.01) | possibly_damaging(0.783) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
SMC6 | SNV | Missense_Mutation | rs376248274 | c.2819N>A | p.Arg940Gln | p.R940Q | Q96SB8 | protein_coding | tolerated(0.22) | possibly_damaging(0.596) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMC6 | SNV | Missense_Mutation | rs373857118 | c.745N>T | p.Arg249Cys | p.R249C | Q96SB8 | protein_coding | deleterious(0) | benign(0.133) | TCGA-AR-A0TS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SMC6 | SNV | Missense_Mutation | novel | c.1570N>A | p.Glu524Lys | p.E524K | Q96SB8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SMC6 | SNV | Missense_Mutation | | c.2240A>G | p.Glu747Gly | p.E747G | Q96SB8 | protein_coding | deleterious(0) | possibly_damaging(0.745) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMC6 | SNV | Missense_Mutation | | c.1694C>T | p.Ser565Phe | p.S565F | Q96SB8 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-EW-A1PB-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SMC6 | SNV | Missense_Mutation | novel | c.1041N>T | p.Met347Ile | p.M347I | Q96SB8 | protein_coding | tolerated(1) | benign(0) | TCGA-S3-A6ZH-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | CR |
SMC6 | insertion | Frame_Shift_Ins | novel | c.1867_1868insATCTTCTAAGTCAT | p.Val623AspfsTer6 | p.V623Dfs*6 | Q96SB8 | protein_coding | | | TCGA-AQ-A04H-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
SMC6 | SNV | Missense_Mutation | novel | c.2837A>G | p.Asp946Gly | p.D946G | Q96SB8 | protein_coding | deleterious(0.02) | benign(0.092) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SMC6 | SNV | Missense_Mutation | novel | c.2482A>G | p.Thr828Ala | p.T828A | Q96SB8 | protein_coding | tolerated(0.45) | benign(0.05) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |