Tissue | Expression Dynamics | Abbreviation |
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/CTCF_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/CTCF_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/CTCF_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/CTCF_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/CTCF_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/CTCF_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:00310605 | Skin | AK | regulation of histone methylation | 16/1910 | 69/18723 | 1.30e-03 | 9.85e-03 | 16 |
GO:00165736 | Skin | AK | histone acetylation | 28/1910 | 152/18723 | 1.44e-03 | 1.06e-02 | 28 |
GO:00064756 | Skin | AK | internal protein amino acid acetylation | 29/1910 | 160/18723 | 1.55e-03 | 1.12e-02 | 29 |
GO:19019836 | Skin | AK | regulation of protein acetylation | 17/1910 | 77/18723 | 1.66e-03 | 1.18e-02 | 17 |
GO:00434144 | Skin | AK | macromolecule methylation | 48/1910 | 316/18723 | 3.28e-03 | 2.01e-02 | 48 |
GO:00070628 | Skin | AK | sister chromatid cohesion | 14/1910 | 62/18723 | 3.32e-03 | 2.03e-02 | 14 |
GO:0071824 | Skin | AK | protein-DNA complex subunit organization | 38/1910 | 241/18723 | 4.43e-03 | 2.57e-02 | 38 |
GO:00988134 | Skin | AK | nuclear chromosome segregation | 42/1910 | 281/18723 | 7.50e-03 | 3.82e-02 | 42 |
GO:00400296 | Skin | AK | regulation of gene expression, epigenetic | 19/1910 | 105/18723 | 9.43e-03 | 4.60e-02 | 19 |
GO:20007565 | Skin | AK | regulation of peptidyl-lysine acetylation | 13/1910 | 63/18723 | 1.01e-02 | 4.81e-02 | 13 |
GO:000081912 | Skin | cSCC | sister chromatid segregation | 110/4864 | 202/18723 | 5.56e-18 | 6.58e-16 | 110 |
GO:000705912 | Skin | cSCC | chromosome segregation | 161/4864 | 346/18723 | 8.34e-17 | 8.57e-15 | 161 |
GO:003304417 | Skin | cSCC | regulation of chromosome organization | 100/4864 | 187/18723 | 8.97e-16 | 7.70e-14 | 100 |
GO:009881311 | Skin | cSCC | nuclear chromosome segregation | 126/4864 | 281/18723 | 4.76e-12 | 2.53e-10 | 126 |
GO:001657024 | Skin | cSCC | histone modification | 179/4864 | 463/18723 | 9.65e-10 | 3.74e-08 | 179 |
GO:003105615 | Skin | cSCC | regulation of histone modification | 68/4864 | 152/18723 | 4.07e-07 | 7.93e-06 | 68 |
GO:000647314 | Skin | cSCC | protein acetylation | 84/4864 | 201/18723 | 6.94e-07 | 1.29e-05 | 84 |
GO:001839414 | Skin | cSCC | peptidyl-lysine acetylation | 72/4864 | 169/18723 | 1.81e-06 | 3.02e-05 | 72 |
GO:001820515 | Skin | cSCC | peptidyl-lysine modification | 137/4864 | 376/18723 | 4.09e-06 | 6.09e-05 | 137 |
GO:000632519 | Skin | cSCC | chromatin organization | 147/4864 | 409/18723 | 4.41e-06 | 6.52e-05 | 147 |
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 |
CTCF | SNV | Missense_Mutation | | c.2059G>A | p.Glu687Lys | p.E687K | P49711 | protein_coding | tolerated_low_confidence(0.46) | benign(0.001) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
CTCF | SNV | Missense_Mutation | | c.1132N>G | p.Pro378Ala | p.P378A | P49711 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A2-A0CQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
CTCF | SNV | Missense_Mutation | | c.850C>T | p.His284Tyr | p.H284Y | P49711 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-A8-A0AD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
CTCF | SNV | Missense_Mutation | | c.772N>G | p.Lys258Glu | p.K258E | P49711 | protein_coding | deleterious(0.05) | probably_damaging(0.971) | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CTCF | SNV | Missense_Mutation | | c.1327N>C | p.Asp443His | p.D443H | P49711 | protein_coding | tolerated(0.13) | probably_damaging(0.999) | TCGA-B6-A0WZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
CTCF | SNV | Missense_Mutation | | c.850C>A | p.His284Asn | p.H284N | P49711 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-BH-A0DH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
CTCF | SNV | Missense_Mutation | | c.1133N>T | p.Pro378Leu | p.P378L | P49711 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A0EA-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | CR |
CTCF | SNV | Missense_Mutation | | c.847N>T | p.Arg283Cys | p.R283C | P49711 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-BH-A0W4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CTCF | SNV | Missense_Mutation | | c.851N>C | p.His284Pro | p.H284P | P49711 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-BH-A0W5-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | CR |
CTCF | SNV | Missense_Mutation | rs746080386 | c.1327G>A | p.Asp443Asn | p.D443N | P49711 | protein_coding | tolerated(0.68) | probably_damaging(0.996) | TCGA-BH-A1FU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |