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:00322043 | Colorectum | MSI-H | regulation of telomere maintenance | 15/1319 | 80/18723 | 4.14e-04 | 9.09e-03 | 15 |
GO:00346553 | Colorectum | MSI-H | nucleobase-containing compound catabolic process | 47/1319 | 407/18723 | 5.69e-04 | 1.14e-02 | 47 |
GO:19023692 | Colorectum | MSI-H | negative regulation of RNA catabolic process | 14/1319 | 75/18723 | 6.68e-04 | 1.28e-02 | 14 |
GO:00467003 | Colorectum | MSI-H | heterocycle catabolic process | 50/1319 | 445/18723 | 7.21e-04 | 1.37e-02 | 50 |
GO:19043583 | Colorectum | MSI-H | positive regulation of telomere maintenance via telomere lengthening | 9/1319 | 37/18723 | 8.53e-04 | 1.55e-02 | 9 |
GO:00434873 | Colorectum | MSI-H | regulation of RNA stability | 24/1319 | 170/18723 | 8.57e-04 | 1.55e-02 | 24 |
GO:00702023 | Colorectum | MSI-H | regulation of establishment of protein localization to chromosome | 5/1319 | 12/18723 | 8.97e-04 | 1.58e-02 | 5 |
GO:00070042 | Colorectum | MSI-H | telomere maintenance via telomerase | 13/1319 | 69/18723 | 9.39e-04 | 1.64e-02 | 13 |
GO:0034660 | Colorectum | MSI-H | ncRNA metabolic process | 53/1319 | 485/18723 | 9.66e-04 | 1.68e-02 | 53 |
GO:0032200 | Colorectum | MSI-H | telomere organization | 22/1319 | 159/18723 | 1.79e-03 | 2.59e-02 | 22 |
GO:00194393 | Colorectum | MSI-H | aromatic compound catabolic process | 50/1319 | 467/18723 | 2.04e-03 | 2.85e-02 | 50 |
GO:00322123 | Colorectum | MSI-H | positive regulation of telomere maintenance via telomerase | 8/1319 | 34/18723 | 2.07e-03 | 2.86e-02 | 8 |
GO:00519732 | Colorectum | MSI-H | positive regulation of telomerase activity | 8/1319 | 34/18723 | 2.07e-03 | 2.86e-02 | 8 |
GO:00062782 | Colorectum | MSI-H | RNA-dependent DNA biosynthetic process | 13/1319 | 75/18723 | 2.08e-03 | 2.86e-02 | 13 |
GO:19048513 | Colorectum | MSI-H | positive regulation of establishment of protein localization to telomere | 4/1319 | 10/18723 | 3.65e-03 | 4.28e-02 | 4 |
GO:19013613 | Colorectum | MSI-H | organic cyclic compound catabolic process | 51/1319 | 495/18723 | 4.07e-03 | 4.67e-02 | 51 |
GO:002261327 | Esophagus | HGIN | ribonucleoprotein complex biogenesis | 158/2587 | 463/18723 | 2.61e-29 | 5.23e-26 | 158 |
GO:004225426 | Esophagus | HGIN | ribosome biogenesis | 101/2587 | 299/18723 | 8.74e-19 | 4.03e-16 | 101 |
GO:007259420 | Esophagus | HGIN | establishment of protein localization to organelle | 120/2587 | 422/18723 | 1.73e-15 | 4.00e-13 | 120 |
GO:000640320 | Esophagus | HGIN | RNA localization | 66/2587 | 201/18723 | 4.06e-12 | 5.41e-10 | 66 |
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 |