Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

DGCR14 (DiGeorge syndrome critical region gene 14)

Identity

Alias_namesDGCR13
DiGeorge syndrome critical region gene 13
Alias_symbol (synonym)DGSI
Es2el
ES2
DGS-H
Other aliasDGS-I
DGSH
ESS-2
bis1
HGNC (Hugo) DGCR14
LocusID (NCBI) 8220
Atlas_Id 62450
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19130279 and ends at 19144677 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CLTCL1 (22q11.21) / DGCR14 (22q11.21)DGCR14 (22q11.21) / CLTCL1 (22q11.21)PLCB3 (11q13.1) / DGCR14 (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)DGCR14   16817
Cards
Entrez_Gene (NCBI)DGCR14  8220  DiGeorge syndrome critical region gene 14
AliasesDGCR13; DGS-H; DGS-I; DGSH; 
DGSI; ES2; ESS-2; Es2el; bis1
GeneCards (Weizmann)DGCR14
Ensembl hg19 (Hinxton)ENSG00000100056 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100056 [Gene_View]  chr22:19130279-19144677 [Contig_View]  DGCR14 [Vega]
ICGC DataPortalENSG00000100056
TCGA cBioPortalDGCR14
AceView (NCBI)DGCR14
Genatlas (Paris)DGCR14
WikiGenes8220
SOURCE (Princeton)DGCR14
Genetics Home Reference (NIH)DGCR14
Genomic and cartography
GoldenPath hg38 (UCSC)DGCR14  -     chr22:19130279-19144677 -  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DGCR14  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblDGCR14 - 22q11.21 [CytoView hg19]  DGCR14 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIDGCR14 [Mapview hg19]  DGCR14 [Mapview hg38]
OMIM192430   601755   
Gene and transcription
Genbank (Entrez)AK095932 BC003015 BC006542 BC037829 BC069275
RefSeq transcript (Entrez)NM_022719
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DGCR14
Cluster EST : UnigeneHs.741535 [ NCBI ]
CGAP (NCI)Hs.741535
Alternative Splicing GalleryENSG00000100056
Gene ExpressionDGCR14 [ NCBI-GEO ]   DGCR14 [ EBI - ARRAY_EXPRESS ]   DGCR14 [ SEEK ]   DGCR14 [ MEM ]
Gene Expression Viewer (FireBrowse)DGCR14 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8220
GTEX Portal (Tissue expression)DGCR14
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96DF8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96DF8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96DF8
Splice isoforms : SwissVarQ96DF8
PhosPhoSitePlusQ96DF8
Domains : Interpro (EBI)Nuclear_protein_DGCR14   
Domain families : Pfam (Sanger)Es2 (PF09751)   
Domain families : Pfam (NCBI)pfam09751   
Conserved Domain (NCBI)DGCR14
DMDM Disease mutations8220
Blocks (Seattle)DGCR14
SuperfamilyQ96DF8
Human Protein AtlasENSG00000100056
Peptide AtlasQ96DF8
HPRD03452
IPIIPI00165171   IPI00853467   
Protein Interaction databases
DIP (DOE-UCLA)Q96DF8
IntAct (EBI)Q96DF8
FunCoupENSG00000100056
BioGRIDDGCR14
STRING (EMBL)DGCR14
ZODIACDGCR14
Ontologies - Pathways
QuickGOQ96DF8
Ontology : AmiGOmRNA splicing, via spliceosome  molecular_function  protein binding  nucleus  nervous system development  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  molecular_function  protein binding  nucleus  nervous system development  catalytic step 2 spliceosome  
NDEx NetworkDGCR14
Atlas of Cancer Signalling NetworkDGCR14
Wikipedia pathwaysDGCR14
Orthology - Evolution
OrthoDB8220
GeneTree (enSembl)ENSG00000100056
Phylogenetic Trees/Animal Genes : TreeFamDGCR14
HOVERGENQ96DF8
HOGENOMQ96DF8
Homologs : HomoloGeneDGCR14
Homology/Alignments : Family Browser (UCSC)DGCR14
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDGCR14 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DGCR14
dbVarDGCR14
ClinVarDGCR14
1000_GenomesDGCR14 
Exome Variant ServerDGCR14
ExAC (Exome Aggregation Consortium)DGCR14 (select the gene name)
Genetic variants : HAPMAP8220
Genomic Variants (DGV)DGCR14 [DGVbeta]
DECIPHERDGCR14 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDGCR14 
Mutations
ICGC Data PortalDGCR14 
TCGA Data PortalDGCR14 
Broad Tumor PortalDGCR14
OASIS PortalDGCR14 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDGCR14  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDGCR14
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DGCR14
DgiDB (Drug Gene Interaction Database)DGCR14
DoCM (Curated mutations)DGCR14 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DGCR14 (select a term)
intoGenDGCR14
Cancer3DDGCR14(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM192430    601755   
Orphanet
MedgenDGCR14
Genetic Testing Registry DGCR14
NextProtQ96DF8 [Medical]
TSGene8220
GENETestsDGCR14
Target ValidationDGCR14
Huge Navigator DGCR14 [HugePedia]
snp3D : Map Gene to Disease8220
BioCentury BCIQDGCR14
ClinGenDGCR14
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8220
Chemical/Pharm GKB GenePA134913100
Clinical trialDGCR14
Miscellaneous
canSAR (ICR)DGCR14 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDGCR14
EVEXDGCR14
GoPubMedDGCR14
iHOPDGCR14
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:06:12 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.