Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/SMC4_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/SMC4_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/SMC4_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/SMC4_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/SMC4_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/SMC4_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/SMC4_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:190336419 | Prostate | Tumor | positive regulation of cellular protein catabolic process | 56/3246 | 155/18723 | 1.51e-08 | 5.43e-07 | 56 |
GO:000170115 | Prostate | Tumor | in utero embryonic development | 106/3246 | 367/18723 | 2.37e-08 | 8.09e-07 | 106 |
GO:190305216 | Prostate | Tumor | positive regulation of proteolysis involved in cellular protein catabolic process | 47/3246 | 133/18723 | 4.46e-07 | 9.77e-06 | 47 |
GO:190180017 | Prostate | Tumor | positive regulation of proteasomal protein catabolic process | 42/3246 | 114/18723 | 4.99e-07 | 1.08e-05 | 42 |
GO:00070594 | Skin | AK | chromosome segregation | 60/1910 | 346/18723 | 2.88e-05 | 4.98e-04 | 60 |
GO:00008195 | Skin | AK | sister chromatid segregation | 37/1910 | 202/18723 | 3.10e-04 | 3.19e-03 | 37 |
GO:0071103 | Skin | AK | DNA conformation change | 47/1910 | 290/18723 | 9.43e-04 | 7.61e-03 | 47 |
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:001049828 | Skin | cSCC | proteasomal protein catabolic process | 243/4864 | 490/18723 | 7.85e-30 | 4.10e-27 | 243 |
GO:004217629 | Skin | cSCC | regulation of protein catabolic process | 198/4864 | 391/18723 | 6.03e-26 | 1.89e-23 | 198 |
GO:004316128 | Skin | cSCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 205/4864 | 412/18723 | 1.46e-25 | 4.16e-23 | 205 |
GO:190336229 | Skin | cSCC | regulation of cellular protein catabolic process | 139/4864 | 255/18723 | 2.06e-22 | 4.17e-20 | 139 |
GO:014001415 | Skin | cSCC | mitotic nuclear division | 149/4864 | 287/18723 | 3.59e-21 | 6.43e-19 | 149 |
GO:190305029 | Skin | cSCC | regulation of proteolysis involved in cellular protein catabolic process | 121/4864 | 221/18723 | 6.75e-20 | 1.01e-17 | 121 |
GO:006113629 | Skin | cSCC | regulation of proteasomal protein catabolic process | 106/4864 | 187/18723 | 4.31e-19 | 5.87e-17 | 106 |
GO:000081912 | Skin | cSCC | sister chromatid segregation | 110/4864 | 202/18723 | 5.56e-18 | 6.58e-16 | 110 |
GO:000007012 | Skin | cSCC | mitotic sister chromatid segregation | 96/4864 | 168/18723 | 9.55e-18 | 1.05e-15 | 96 |
GO:000705912 | Skin | cSCC | chromosome segregation | 161/4864 | 346/18723 | 8.34e-17 | 8.57e-15 | 161 |
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 |
SMC4 | SNV | Missense_Mutation | | c.160N>C | p.Asp54His | p.D54H | Q9NTJ3 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A8-A094-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMC4 | SNV | Missense_Mutation | novel | c.1980N>C | p.Arg660Ser | p.R660S | Q9NTJ3 | protein_coding | tolerated(0.21) | benign(0.079) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMC4 | SNV | Missense_Mutation | rs753147258 | c.641N>A | p.Arg214Gln | p.R214Q | Q9NTJ3 | protein_coding | deleterious(0) | benign(0.315) | TCGA-BH-A18P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
SMC4 | SNV | Missense_Mutation | | c.2726N>G | p.Ile909Arg | p.I909R | Q9NTJ3 | protein_coding | deleterious(0) | probably_damaging(0.917) | TCGA-C8-A12W-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SMC4 | SNV | Missense_Mutation | rs748833024 | c.2083N>C | p.Asp695His | p.D695H | Q9NTJ3 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A1JC-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
SMC4 | SNV | Missense_Mutation | | c.1189N>A | p.Asp397Asn | p.D397N | Q9NTJ3 | protein_coding | deleterious(0.03) | possibly_damaging(0.658) | TCGA-JL-A3YW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMC4 | SNV | Missense_Mutation | | c.3253N>A | p.Glu1085Lys | p.E1085K | Q9NTJ3 | protein_coding | tolerated(0.29) | benign(0.009) | TCGA-C5-A1MK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
SMC4 | SNV | Missense_Mutation | novel | c.606N>C | p.Lys202Asn | p.K202N | Q9NTJ3 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
SMC4 | SNV | Missense_Mutation | novel | c.2188C>G | p.Gln730Glu | p.Q730E | Q9NTJ3 | protein_coding | tolerated(0.31) | benign(0.009) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
SMC4 | SNV | Missense_Mutation | | c.3676N>C | p.Asp1226His | p.D1226H | Q9NTJ3 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |