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:009008311 | Liver | HCC | regulation of inclusion body assembly | 14/7958 | 17/18723 | 9.39e-04 | 5.47e-03 | 14 |
GO:00708971 | Liver | HCC | transcription preinitiation complex assembly | 25/7958 | 36/18723 | 9.87e-04 | 5.71e-03 | 25 |
GO:00063021 | Liver | HCC | double-strand break repair | 131/7958 | 251/18723 | 1.17e-03 | 6.54e-03 | 131 |
GO:00075691 | Liver | HCC | cell aging | 73/7958 | 132/18723 | 2.00e-03 | 1.01e-02 | 73 |
GO:00322001 | Liver | HCC | telomere organization | 86/7958 | 159/18723 | 2.06e-03 | 1.04e-02 | 86 |
GO:2000144 | Liver | HCC | positive regulation of DNA-templated transcription, initiation | 21/7958 | 31/18723 | 4.01e-03 | 1.76e-02 | 21 |
GO:00511231 | Liver | HCC | RNA polymerase II preinitiation complex assembly | 17/7958 | 24/18723 | 4.72e-03 | 2.02e-02 | 17 |
GO:0051984 | Liver | HCC | positive regulation of chromosome segregation | 11/7958 | 14/18723 | 6.81e-03 | 2.73e-02 | 11 |
GO:0060261 | Liver | HCC | positive regulation of transcription initiation from RNA polymerase II promoter | 17/7958 | 25/18723 | 8.94e-03 | 3.45e-02 | 17 |
GO:001049820 | Oral cavity | OSCC | proteasomal protein catabolic process | 336/7305 | 490/18723 | 5.45e-41 | 8.63e-38 | 336 |
GO:004316120 | Oral cavity | OSCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 285/7305 | 412/18723 | 5.68e-36 | 5.99e-33 | 285 |
GO:000989620 | Oral cavity | OSCC | positive regulation of catabolic process | 307/7305 | 492/18723 | 2.29e-26 | 7.64e-24 | 307 |
GO:003133120 | Oral cavity | OSCC | positive regulation of cellular catabolic process | 273/7305 | 427/18723 | 6.39e-26 | 2.02e-23 | 273 |
GO:004217620 | Oral cavity | OSCC | regulation of protein catabolic process | 254/7305 | 391/18723 | 1.07e-25 | 3.22e-23 | 254 |
GO:003497620 | Oral cavity | OSCC | response to endoplasmic reticulum stress | 178/7305 | 256/18723 | 2.59e-23 | 6.06e-21 | 178 |
GO:004586220 | Oral cavity | OSCC | positive regulation of proteolysis | 236/7305 | 372/18723 | 6.53e-22 | 1.38e-19 | 236 |
GO:190336220 | Oral cavity | OSCC | regulation of cellular protein catabolic process | 174/7305 | 255/18723 | 2.04e-21 | 3.70e-19 | 174 |
GO:190305020 | Oral cavity | OSCC | regulation of proteolysis involved in cellular protein catabolic process | 152/7305 | 221/18723 | 2.16e-19 | 3.15e-17 | 152 |
GO:006113620 | Oral cavity | OSCC | regulation of proteasomal protein catabolic process | 132/7305 | 187/18723 | 1.57e-18 | 1.81e-16 | 132 |
GO:004325420 | Oral cavity | OSCC | regulation of protein-containing complex assembly | 255/7305 | 428/18723 | 2.94e-18 | 3.15e-16 | 255 |
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 |