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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for DGUOK |
Basic gene info. | Gene symbol | DGUOK |
Gene name | deoxyguanosine kinase | |
Synonyms | MTDPS3|dGK | |
Cytomap | UCSC genome browser: 2p13 | |
Genomic location | chr2 :74153952-74186088 | |
Type of gene | protein-coding | |
RefGenes | NM_080916.2, NM_080918.2,NM_001929.2,NM_080915.1,NM_080917.1, | |
Ensembl id | ENSG00000114956 | |
Description | deoxyguanosine kinase, mitochondrial | |
Modification date | 20141219 | |
dbXrefs | MIM : 601465 | |
HGNC : HGNC | ||
Ensembl : ENSG00000114956 | ||
HPRD : 03273 | ||
Vega : OTTHUMG00000129819 | ||
Protein | UniProt: Q16854 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DGUOK | |
BioGPS: 1716 | ||
Gene Expression Atlas: ENSG00000114956 | ||
The Human Protein Atlas: ENSG00000114956 | ||
Pathway | NCI Pathway Interaction Database: DGUOK | |
KEGG: DGUOK | ||
REACTOME: DGUOK | ||
ConsensusPathDB | ||
Pathway Commons: DGUOK | ||
Metabolism | MetaCyc: DGUOK | |
HUMANCyc: DGUOK | ||
Regulation | Ensembl's Regulation: ENSG00000114956 | |
miRBase: chr2 :74,153,952-74,186,088 | ||
TargetScan: NM_080916 | ||
cisRED: ENSG00000114956 | ||
Context | iHOP: DGUOK | |
cancer metabolism search in PubMed: DGUOK | ||
UCL Cancer Institute: DGUOK | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of DGUOK in cancer cell metabolism | 1. Shigemi H, Yamauchi T, Tanaka Y, Ueda T (2013) Novel leukemic cell lines resistant to clofarabine by mechanisms of decreased active metabolite and increased antiapoptosis. Cancer Sci 104: 732-739. doi: 10.1111/cas.12131. go to article 2. Yamauchi T, Uzui K, Nishi R, Shigemi H, Ueda T (2014) Reduced drug incorporation into DNA and antiapoptosis as the crucial mechanisms of resistance in a novel nelarabine-resistant cell line. BMC Cancer 14: 547. doi: 10.1186/1471-2407-14-547. pmid: 4122765. go to article 3. Curbo S, Johansson M, Balzarini J, Lewis LD, Karlsson A (2009) Acute cytotoxicity of arabinofuranosyl nucleoside analogs is not dependent on mitochondrial DNA. Exp Cell Res 315: 2539-2543. doi: 10.1016/j.yexcr.2009.05.021. go to article |
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Phenotypic Information for DGUOK(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: DGUOK |
Familial Cancer Database: DGUOK |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
KEGG_PURINE_METABOLISM REACTOME_METABOLISM_OF_NUCLEOTIDES REACTOME_PURINE_METABOLISM |
Others | |
OMIM | 251880; phenotype. 601465; gene. |
Orphanet | 279934; Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency. 329314; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency. |
Disease | KEGG Disease: DGUOK |
MedGen: DGUOK (Human Medical Genetics with Condition) | |
ClinVar: DGUOK | |
Phenotype | MGI: DGUOK (International Mouse Phenotyping Consortium) |
PhenomicDB: DGUOK |
Mutations for DGUOK |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
There's no inter-chromosomal structural variation. |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | DGUOK | chr2 | 74174764 | 74174784 | DGUOK | chr2 | 74174845 | 74174865 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows DGUOK related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
AI351551 | DGUOK | 9 | 132 | 2 | 74185950 | 74186073 | CFLAR | 127 | 513 | 2 | 201994640 | 202000746 | |
BM750642 | DGUOK | 1 | 259 | 2 | 74153953 | 74185304 | PRKD2 | 260 | 598 | 19 | 47197249 | 47201109 | |
AW936940 | OLFM4 | 17 | 279 | 13 | 53625570 | 53625831 | DGUOK | 272 | 641 | 2 | 74160102 | 74160471 | |
BF926421 | UBE2A | 33 | 149 | X | 118715045 | 118715161 | DGUOK | 146 | 412 | 2 | 74177042 | 74177308 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   |   |   |   |   |   |   |   | 1 |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   | 1 |   |   |   |   |   |   |   |   | |||
LOSS (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=14) | (# total SNVs=4) |
(# total SNVs=1) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr2:74174018-74174018 | p.S143Y | 2 |
chr2:74173969-74173969 | p.P127S | 2 |
chr2:74184306-74184306 | p.L216L | 1 |
chr2:74154164-74154164 | p.I43F | 1 |
chr2:74185316-74185316 | p.D251N | 1 |
chr2:74154181-74154181 | p.? | 1 |
chr2:74177731-74177731 | p.L155V | 1 |
chr2:74185335-74185335 | p.S257fs*4 | 1 |
chr2:74166064-74166064 | p.L57S | 1 |
chr2:74177737-74177737 | p.E157Q | 1 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample |   | 1 | 1 | 1 |   |   |   |   | 1 |   |   | 4 | 1 |   |   |   | 6 | 2 |   | 1 |
# mutation |   | 1 | 1 | 1 |   |   |   |   | 1 |   |   | 4 | 1 |   |   |   | 6 | 2 |   | 1 |
nonsynonymous SNV |   | 1 | 1 | 1 |   |   |   |   |   |   |   | 2 |   |   |   |   | 4 | 1 |   |   |
synonymous SNV |   |   |   |   |   |   |   |   | 1 |   |   | 2 | 1 |   |   |   | 2 | 1 |   | 1 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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Top 10 SNVs Having the Most Samples in TCGA data |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr2:74173931 | p.E157Q | 1 |
chr2:74184306 | p.L176F | 1 |
chr2:74173969 | p.S182R | 1 |
chr2:74185845 | p.I190M | 1 |
chr2:74177718 | p.A194A | 1 |
chr2:74177737 | p.P196P | 1 |
chr2:74177794 | p.Q197K | 1 |
chr2:74177814 | p.I214L | 1 |
chr2:74154045 | p.A3V,DGUOK | 1 |
chr2:74177838 | p.L216L | 1 |
Other DBs for Point Mutations |
Copy Number for DGUOK in TCGA |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for DGUOK |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
ATP5J2,BOLA3,BUD31,C19orf43,COX5B,CSNK2B,DGUOK, FAM96B,LSM7,NDUFS3,NUTF2,OST4,PCGF1,POLR2J, PSMG3,RPP21,SHFM1,SNRPA,SNRPG,TMSB10,USMG5 | C17orf49,CNFN,BLOC1S4,CUTA,DGUOK,DIABLO,DPM2, DYRK4,ETHE1,EEF2KMT,HDAC3,CERS5,LSM2,PDCD6, PPIH,RAB34,SF3B4,SNRPF,SSR2,TSEN34,UXT |
ACP1,ARF5,BUD31,ATRAID,DGUOK,DPY30,METTL5, MRPL18,MRPL53,NUTF2,OST4,PCGF1,POLR2J,PSMB1, RNF181,SF3B14,SHFM1,SNRPG,SSNA1,SUMO1,PAM16 | ATP5J2,ATPIF1,C14orf2,CHCHD1,COX16,COX7A2,DGUOK, FAM96A,HINT1,MRPL14,MRPL48,MRPS36,NDUFA2,NDUFC2, PDCD6,PDZD11,PPCS,SDHAF2,SPCS1,UQCR10,VPS25 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for DGUOK |
There's no related Drug. |
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Cross referenced IDs for DGUOK |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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