Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![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/Colorectum/Becker/DKC1_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/DKC1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/DKC1_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/DKC1_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/DKC1_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/DKC1_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/DKC1_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:19001803 | Colorectum | MSI-H | regulation of protein localization to nucleus | 26/1319 | 136/18723 | 2.64e-06 | 1.53e-04 | 26 |
GO:00098953 | Colorectum | MSI-H | negative regulation of catabolic process | 46/1319 | 320/18723 | 3.00e-06 | 1.68e-04 | 46 |
GO:19038293 | Colorectum | MSI-H | positive regulation of cellular protein localization | 41/1319 | 276/18723 | 4.49e-06 | 2.37e-04 | 41 |
GO:19049513 | Colorectum | MSI-H | positive regulation of establishment of protein localization | 44/1319 | 319/18723 | 1.42e-05 | 6.31e-04 | 44 |
GO:00064033 | Colorectum | MSI-H | RNA localization | 31/1319 | 201/18723 | 3.04e-05 | 1.20e-03 | 31 |
GO:00345043 | Colorectum | MSI-H | protein localization to nucleus | 40/1319 | 290/18723 | 3.43e-05 | 1.33e-03 | 40 |
GO:00108333 | Colorectum | MSI-H | telomere maintenance via telomere lengthening | 17/1319 | 81/18723 | 4.01e-05 | 1.51e-03 | 17 |
GO:00322063 | Colorectum | MSI-H | positive regulation of telomere maintenance | 13/1319 | 52/18723 | 4.72e-05 | 1.69e-03 | 13 |
GO:20012523 | Colorectum | MSI-H | positive regulation of chromosome organization | 17/1319 | 82/18723 | 4.73e-05 | 1.69e-03 | 17 |
GO:00007233 | Colorectum | MSI-H | telomere maintenance | 22/1319 | 131/18723 | 1.18e-04 | 3.52e-03 | 22 |
GO:00510523 | Colorectum | MSI-H | regulation of DNA metabolic process | 45/1319 | 359/18723 | 1.20e-04 | 3.56e-03 | 45 |
GO:20002783 | Colorectum | MSI-H | regulation of DNA biosynthetic process | 19/1319 | 106/18723 | 1.40e-04 | 4.11e-03 | 19 |
GO:00434892 | Colorectum | MSI-H | RNA stabilization | 14/1319 | 65/18723 | 1.41e-04 | 4.11e-03 | 14 |
GO:0034470 | Colorectum | MSI-H | ncRNA processing | 48/1319 | 395/18723 | 1.54e-04 | 4.47e-03 | 48 |
GO:20005733 | Colorectum | MSI-H | positive regulation of DNA biosynthetic process | 14/1319 | 66/18723 | 1.67e-04 | 4.69e-03 | 14 |
GO:19043563 | Colorectum | MSI-H | regulation of telomere maintenance via telomere lengthening | 13/1319 | 61/18723 | 2.70e-04 | 6.81e-03 | 13 |
GO:00064013 | Colorectum | MSI-H | RNA catabolic process | 36/1319 | 278/18723 | 2.95e-04 | 7.25e-03 | 36 |
GO:00442703 | Colorectum | MSI-H | cellular nitrogen compound catabolic process | 52/1319 | 451/18723 | 3.09e-04 | 7.50e-03 | 52 |
GO:00519723 | Colorectum | MSI-H | regulation of telomerase activity | 11/1319 | 47/18723 | 3.34e-04 | 7.91e-03 | 11 |
GO:00718973 | Colorectum | MSI-H | DNA biosynthetic process | 26/1319 | 180/18723 | 3.73e-04 | 8.56e-03 | 26 |
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 |
DKC1 | SNV | Missense_Mutation | novel | c.601G>A | p.Glu201Lys | p.E201K | O60832 | protein_coding | deleterious(0.03) | benign(0.094) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DKC1 | SNV | Missense_Mutation | | c.58N>G | p.Lys20Glu | p.K20E | O60832 | protein_coding | deleterious_low_confidence(0.02) | benign(0.196) | TCGA-AR-A0TW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | PD |
DKC1 | SNV | Missense_Mutation | | c.39N>G | p.His13Gln | p.H13Q | O60832 | protein_coding | tolerated_low_confidence(0.12) | benign(0.048) | TCGA-AR-A24H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
DKC1 | insertion | Frame_Shift_Ins | novel | c.558_559insCTACTCGGGAGGCTGAGGCAGGAGA | p.Ile187LeufsTer28 | p.I187Lfs*28 | O60832 | protein_coding | | | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
DKC1 | SNV | Missense_Mutation | | c.1378N>T | p.Pro460Ser | p.P460S | O60832 | protein_coding | tolerated_low_confidence(0.11) | benign(0) | TCGA-C5-A1BJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
DKC1 | SNV | Missense_Mutation | novel | c.89N>C | p.Ile30Thr | p.I30T | O60832 | protein_coding | tolerated(0.14) | benign(0.017) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
DKC1 | SNV | Missense_Mutation | | c.763N>G | p.Ser255Gly | p.S255G | O60832 | protein_coding | tolerated(0.61) | benign(0.009) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
DKC1 | SNV | Missense_Mutation | | c.1106T>C | p.Val369Ala | p.V369A | O60832 | protein_coding | deleterious(0.01) | probably_damaging(0.942) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
DKC1 | SNV | Missense_Mutation | rs782117503 | c.1334N>T | p.Ala445Val | p.A445V | O60832 | protein_coding | tolerated(0.46) | benign(0) | TCGA-CM-5861-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
DKC1 | SNV | Missense_Mutation | rs782010351 | c.55N>T | p.Arg19Trp | p.R19W | O60832 | protein_coding | deleterious_low_confidence(0) | benign(0.249) | TCGA-CM-6171-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |