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DGCR8 (DGCR8, microprocessor complex subunit)

Identity

Alias_namesC22orf12
chromosome 22 open reading frame 12
DiGeorge syndrome critical region gene 8
Alias_symbol (synonym)DGCRK6
Gy1
pasha
Other alias
HGNC (Hugo) DGCR8
LocusID (NCBI) 54487
Atlas_Id 53138
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 20080232 and ends at 20111877 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CDKL5 (Xp22.13) / DGCR8 (22q11.21)DEFA1 (8p23.1) / DGCR8 (22q11.21)DGCR8 (22q11.21) / CRKL (22q11.21)
DGCR8 (22q11.21) / SGSM1 (22q11.23)WNT7B (22q13.31) / DGCR8 (22q11.21)DGCR8 22q11.21 / CRKL 22q11.21
DGCR8 22q11.21 / SGSM1 22q11.23WNT7B 22q13.31 / DGCR8 22q11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DGCR8   2847
Cards
Entrez_Gene (NCBI)DGCR8  54487  DGCR8, microprocessor complex subunit
AliasesC22orf12; DGCRK6; Gy1; pasha
GeneCards (Weizmann)DGCR8
Ensembl hg19 (Hinxton)ENSG00000128191 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128191 [Gene_View]  chr22:20080232-20111877 [Contig_View]  DGCR8 [Vega]
ICGC DataPortalENSG00000128191
TCGA cBioPortalDGCR8
AceView (NCBI)DGCR8
Genatlas (Paris)DGCR8
WikiGenes54487
SOURCE (Princeton)DGCR8
Genetics Home Reference (NIH)DGCR8
Genomic and cartography
GoldenPath hg38 (UCSC)DGCR8  -     chr22:20080232-20111877 +  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DGCR8  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblDGCR8 - 22q11.21 [CytoView hg19]  DGCR8 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIDGCR8 [Mapview hg19]  DGCR8 [Mapview hg38]
OMIM192430   609030   
Gene and transcription
Genbank (Entrez)AA737782 AF165527 AK025427 AK025539 AK025780
RefSeq transcript (Entrez)NM_001190326 NM_022720
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DGCR8
Cluster EST : UnigeneHs.713579 [ NCBI ]
CGAP (NCI)Hs.713579
Alternative Splicing GalleryENSG00000128191
Gene ExpressionDGCR8 [ NCBI-GEO ]   DGCR8 [ EBI - ARRAY_EXPRESS ]   DGCR8 [ SEEK ]   DGCR8 [ MEM ]
Gene Expression Viewer (FireBrowse)DGCR8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54487
GTEX Portal (Tissue expression)DGCR8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WYQ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WYQ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WYQ5
Splice isoforms : SwissVarQ8WYQ5
PhosPhoSitePlusQ8WYQ5
Domaine pattern : Prosite (Expaxy)DS_RBD (PS50137)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)dsRBD_dom    WW_dom   
Domain families : Pfam (Sanger)dsrm (PF00035)   
Domain families : Pfam (NCBI)pfam00035   
Domain families : Smart (EMBL)DSRM (SM00358)  WW (SM00456)  
Conserved Domain (NCBI)DGCR8
DMDM Disease mutations54487
Blocks (Seattle)DGCR8
PDB (SRS)1X47    2YT4    3LE4    5B16   
PDB (PDBSum)1X47    2YT4    3LE4    5B16   
PDB (IMB)1X47    2YT4    3LE4    5B16   
PDB (RSDB)1X47    2YT4    3LE4    5B16   
Structural Biology KnowledgeBase1X47    2YT4    3LE4    5B16   
SCOP (Structural Classification of Proteins)1X47    2YT4    3LE4    5B16   
CATH (Classification of proteins structures)1X47    2YT4    3LE4    5B16   
SuperfamilyQ8WYQ5
Human Protein AtlasENSG00000128191
Peptide AtlasQ8WYQ5
HPRD09913
IPIIPI00165970   IPI00216207   IPI00549380   IPI00953279   
Protein Interaction databases
DIP (DOE-UCLA)Q8WYQ5
IntAct (EBI)Q8WYQ5
FunCoupENSG00000128191
BioGRIDDGCR8
STRING (EMBL)DGCR8
ZODIACDGCR8
Ontologies - Pathways
QuickGOQ8WYQ5
Ontology : AmiGOdouble-stranded RNA binding  ribonuclease III activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  heme binding  gene silencing by RNA  primary miRNA processing  protein homodimerization activity  metal ion binding  microprocessor complex  primary miRNA binding  regulation of stem cell proliferation  RNA phosphodiester bond hydrolysis, endonucleolytic  
Ontology : EGO-EBIdouble-stranded RNA binding  ribonuclease III activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  heme binding  gene silencing by RNA  primary miRNA processing  protein homodimerization activity  metal ion binding  microprocessor complex  primary miRNA binding  regulation of stem cell proliferation  RNA phosphodiester bond hydrolysis, endonucleolytic  
NDEx NetworkDGCR8
Atlas of Cancer Signalling NetworkDGCR8
Wikipedia pathwaysDGCR8
Orthology - Evolution
OrthoDB54487
GeneTree (enSembl)ENSG00000128191
Phylogenetic Trees/Animal Genes : TreeFamDGCR8
HOVERGENQ8WYQ5
HOGENOMQ8WYQ5
Homologs : HomoloGeneDGCR8
Homology/Alignments : Family Browser (UCSC)DGCR8
Gene fusions - Rearrangements
Fusion : MitelmanDGCR8/CRKL [22q11.21/22q11.21]  
Fusion : MitelmanDGCR8/SGSM1 [22q11.21/22q11.23]  [t(22;22)(q11;q11)]  
Fusion : MitelmanWNT7B/DGCR8 [22q13.31/22q11.21]  [t(22;22)(q11;q13)]  
Fusion: TCGADGCR8 22q11.21 CRKL 22q11.21 LUSC
Fusion: TCGADGCR8 22q11.21 SGSM1 22q11.23 HNSC
Fusion: TCGAWNT7B 22q13.31 DGCR8 22q11.21 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDGCR8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DGCR8
dbVarDGCR8
ClinVarDGCR8
1000_GenomesDGCR8 
Exome Variant ServerDGCR8
ExAC (Exome Aggregation Consortium)DGCR8 (select the gene name)
Genetic variants : HAPMAP54487
Genomic Variants (DGV)DGCR8 [DGVbeta]
DECIPHERDGCR8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDGCR8 
Mutations
ICGC Data PortalDGCR8 
TCGA Data PortalDGCR8 
Broad Tumor PortalDGCR8
OASIS PortalDGCR8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDGCR8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDGCR8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DGCR8
DgiDB (Drug Gene Interaction Database)DGCR8
DoCM (Curated mutations)DGCR8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DGCR8 (select a term)
intoGenDGCR8
Cancer3DDGCR8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM192430    609030   
Orphanet
MedgenDGCR8
Genetic Testing Registry DGCR8
NextProtQ8WYQ5 [Medical]
TSGene54487
GENETestsDGCR8
Target ValidationDGCR8
Huge Navigator DGCR8 [HugePedia]
snp3D : Map Gene to Disease54487
BioCentury BCIQDGCR8
ClinGenDGCR8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54487
Chemical/Pharm GKB GenePA27309
Clinical trialDGCR8
Miscellaneous
canSAR (ICR)DGCR8 (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDGCR8
EVEXDGCR8
GoPubMedDGCR8
iHOPDGCR8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:31:03 CEST 2017

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