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:19030503 | Colorectum | MSI-H | regulation of proteolysis involved in cellular protein catabolic process | 43/1319 | 221/18723 | 9.16e-10 | 1.27e-07 | 43 |
GO:00104983 | Colorectum | MSI-H | proteasomal protein catabolic process | 71/1319 | 490/18723 | 4.67e-09 | 6.03e-07 | 71 |
GO:00611363 | Colorectum | MSI-H | regulation of proteasomal protein catabolic process | 34/1319 | 187/18723 | 2.84e-07 | 2.25e-05 | 34 |
GO:00098963 | Colorectum | MSI-H | positive regulation of catabolic process | 64/1319 | 492/18723 | 1.39e-06 | 9.16e-05 | 64 |
GO:00313313 | Colorectum | MSI-H | positive regulation of cellular catabolic process | 56/1319 | 427/18723 | 4.89e-06 | 2.54e-04 | 56 |
GO:00431613 | Colorectum | MSI-H | proteasome-mediated ubiquitin-dependent protein catabolic process | 53/1319 | 412/18723 | 1.51e-05 | 6.62e-04 | 53 |
GO:00458623 | Colorectum | MSI-H | positive regulation of proteolysis | 49/1319 | 372/18723 | 1.67e-05 | 7.15e-04 | 49 |
GO:00457323 | Colorectum | MSI-H | positive regulation of protein catabolic process | 34/1319 | 231/18723 | 3.46e-05 | 1.33e-03 | 34 |
GO:19033643 | Colorectum | MSI-H | positive regulation of cellular protein catabolic process | 25/1319 | 155/18723 | 8.26e-05 | 2.72e-03 | 25 |
GO:19030523 | Colorectum | MSI-H | positive regulation of proteolysis involved in cellular protein catabolic process | 21/1319 | 133/18723 | 3.99e-04 | 8.98e-03 | 21 |
GO:19018003 | Colorectum | MSI-H | positive regulation of proteasomal protein catabolic process | 18/1319 | 114/18723 | 1.01e-03 | 1.73e-02 | 18 |
GO:004217627 | Esophagus | HGIN | regulation of protein catabolic process | 119/2587 | 391/18723 | 8.09e-18 | 2.43e-15 | 119 |
GO:001049826 | Esophagus | HGIN | proteasomal protein catabolic process | 139/2587 | 490/18723 | 1.20e-17 | 3.41e-15 | 139 |
GO:004586227 | Esophagus | HGIN | positive regulation of proteolysis | 107/2587 | 372/18723 | 2.61e-14 | 4.60e-12 | 107 |
GO:004316126 | Esophagus | HGIN | proteasome-mediated ubiquitin-dependent protein catabolic process | 114/2587 | 412/18723 | 7.00e-14 | 1.20e-11 | 114 |
GO:190336227 | Esophagus | HGIN | regulation of cellular protein catabolic process | 81/2587 | 255/18723 | 1.16e-13 | 1.93e-11 | 81 |
GO:000989626 | Esophagus | HGIN | positive regulation of catabolic process | 126/2587 | 492/18723 | 1.46e-12 | 2.09e-10 | 126 |
GO:003133126 | Esophagus | HGIN | positive regulation of cellular catabolic process | 112/2587 | 427/18723 | 5.15e-12 | 6.72e-10 | 112 |
GO:190305027 | Esophagus | HGIN | regulation of proteolysis involved in cellular protein catabolic process | 70/2587 | 221/18723 | 6.21e-12 | 7.76e-10 | 70 |
GO:006113627 | Esophagus | HGIN | regulation of proteasomal protein catabolic process | 60/2587 | 187/18723 | 1.10e-10 | 1.12e-08 | 60 |
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 |