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:00345042 | Colorectum | MSS | protein localization to nucleus | 92/3467 | 290/18723 | 3.66e-08 | 1.98e-06 | 92 |
GO:00510522 | Colorectum | MSS | regulation of DNA metabolic process | 108/3467 | 359/18723 | 5.86e-08 | 3.10e-06 | 108 |
GO:00064032 | Colorectum | MSS | RNA localization | 69/3467 | 201/18723 | 6.33e-08 | 3.26e-06 | 69 |
GO:00510542 | Colorectum | MSS | positive regulation of DNA metabolic process | 69/3467 | 201/18723 | 6.33e-08 | 3.26e-06 | 69 |
GO:19001822 | Colorectum | MSS | positive regulation of protein localization to nucleus | 37/3467 | 87/18723 | 1.88e-07 | 8.26e-06 | 37 |
GO:19023691 | Colorectum | MSS | negative regulation of RNA catabolic process | 32/3467 | 75/18723 | 1.14e-06 | 3.87e-05 | 32 |
GO:20012522 | Colorectum | MSS | positive regulation of chromosome organization | 33/3467 | 82/18723 | 3.72e-06 | 1.07e-04 | 33 |
GO:00519722 | Colorectum | MSS | regulation of telomerase activity | 21/3467 | 47/18723 | 3.36e-05 | 6.56e-04 | 21 |
GO:00434891 | Colorectum | MSS | RNA stabilization | 26/3467 | 65/18723 | 4.39e-05 | 8.17e-04 | 26 |
GO:20002782 | Colorectum | MSS | regulation of DNA biosynthetic process | 37/3467 | 106/18723 | 4.48e-05 | 8.28e-04 | 37 |
GO:20005732 | Colorectum | MSS | positive regulation of DNA biosynthetic process | 26/3467 | 66/18723 | 5.97e-05 | 1.04e-03 | 26 |
GO:00322042 | Colorectum | MSS | regulation of telomere maintenance | 29/3467 | 80/18723 | 1.35e-04 | 2.04e-03 | 29 |
GO:00519731 | Colorectum | MSS | positive regulation of telomerase activity | 16/3467 | 34/18723 | 1.36e-04 | 2.04e-03 | 16 |
GO:00330441 | Colorectum | MSS | regulation of chromosome organization | 55/3467 | 187/18723 | 1.86e-04 | 2.63e-03 | 55 |
GO:00322062 | Colorectum | MSS | positive regulation of telomere maintenance | 21/3467 | 52/18723 | 1.98e-04 | 2.78e-03 | 21 |
GO:00422542 | Colorectum | MSS | ribosome biogenesis | 79/3467 | 299/18723 | 4.32e-04 | 5.23e-03 | 79 |
GO:00108332 | Colorectum | MSS | telomere maintenance via telomere lengthening | 28/3467 | 81/18723 | 4.34e-04 | 5.23e-03 | 28 |
GO:19043582 | Colorectum | MSS | positive regulation of telomere maintenance via telomere lengthening | 16/3467 | 37/18723 | 4.51e-04 | 5.38e-03 | 16 |
GO:00322122 | Colorectum | MSS | positive regulation of telomere maintenance via telomerase | 15/3467 | 34/18723 | 5.22e-04 | 5.99e-03 | 15 |
GO:00007232 | Colorectum | MSS | telomere maintenance | 40/3467 | 131/18723 | 5.86e-04 | 6.49e-03 | 40 |
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 |