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DEAF1 (DEAF1, transcription factor)

Identity

Alias_namesdeformed epidermal autoregulatory factor 1 (Drosophila)
Alias_symbol (synonym)NUDR
SPN
ZMYND5
Other aliasMRD24
HGNC (Hugo) DEAF1
LocusID (NCBI) 10522
Atlas_Id 40292
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 644220 and ends at 695754 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ANO9 (11p15.5) / DEAF1 (11p15.5)DEAF1 (11p15.5) / PDDC1 (11p15.5)RNH1 (11p15.5) / DEAF1 (11p15.5)
ANO9 11p15.5 / DEAF1 11p15.5DEAF1 11p15.5 / PDDC1 11p15.5RNH1 11p15.5 / DEAF1 11p15.5

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)DEAF1   14677
Cards
Entrez_Gene (NCBI)DEAF1  10522  DEAF1, transcription factor
AliasesMRD24; NUDR; SPN; ZMYND5
GeneCards (Weizmann)DEAF1
Ensembl hg19 (Hinxton)ENSG00000177030 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177030 [Gene_View]  chr11:644220-695754 [Contig_View]  DEAF1 [Vega]
ICGC DataPortalENSG00000177030
TCGA cBioPortalDEAF1
AceView (NCBI)DEAF1
Genatlas (Paris)DEAF1
WikiGenes10522
SOURCE (Princeton)DEAF1
Genetics Home Reference (NIH)DEAF1
Genomic and cartography
GoldenPath hg38 (UCSC)DEAF1  -     chr11:644220-695754 -  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEAF1  -     11p15.5   [Description]    (hg19-Feb_2009)
EnsemblDEAF1 - 11p15.5 [CytoView hg19]  DEAF1 - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBIDEAF1 [Mapview hg19]  DEAF1 [Mapview hg38]
OMIM602635   615828   617171   
Gene and transcription
Genbank (Entrez)AB209831 AF007165 AF049459 AF049460 AF068892
RefSeq transcript (Entrez)NM_001293634 NM_021008
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_034156 NT_187586
Consensus coding sequences : CCDS (NCBI)DEAF1
Cluster EST : UnigeneHs.243994 [ NCBI ]
CGAP (NCI)Hs.243994
Alternative Splicing GalleryENSG00000177030
Gene ExpressionDEAF1 [ NCBI-GEO ]   DEAF1 [ EBI - ARRAY_EXPRESS ]   DEAF1 [ SEEK ]   DEAF1 [ MEM ]
Gene Expression Viewer (FireBrowse)DEAF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10522
GTEX Portal (Tissue expression)DEAF1
Human Protein AtlasENSG00000177030-DEAF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75398   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75398  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75398
Splice isoforms : SwissVarO75398
PhosPhoSitePlusO75398
Domaine pattern : Prosite (Expaxy)SAND (PS50864)    ZF_MYND_1 (PS01360)    ZF_MYND_2 (PS50865)   
Domains : Interpro (EBI)SAND_dom    SAND_dom-like    TF_DEAF-1    Znf_MYND   
Domain families : Pfam (Sanger)SAND (PF01342)    zf-MYND (PF01753)   
Domain families : Pfam (NCBI)pfam01342    pfam01753   
Domain families : Smart (EMBL)SAND (SM00258)  
Conserved Domain (NCBI)DEAF1
DMDM Disease mutations10522
Blocks (Seattle)DEAF1
PDB (SRS)2JW6    4A24   
PDB (PDBSum)2JW6    4A24   
PDB (IMB)2JW6    4A24   
PDB (RSDB)2JW6    4A24   
Structural Biology KnowledgeBase2JW6    4A24   
SCOP (Structural Classification of Proteins)2JW6    4A24   
CATH (Classification of proteins structures)2JW6    4A24   
SuperfamilyO75398
Human Protein Atlas [tissue]ENSG00000177030-DEAF1 [tissue]
Peptide AtlasO75398
HPRD04027
IPIIPI00216889   IPI00784235   IPI00742784   IPI00954833   IPI00783411   IPI00978688   
Protein Interaction databases
DIP (DOE-UCLA)O75398
IntAct (EBI)O75398
FunCoupENSG00000177030
BioGRIDDEAF1
STRING (EMBL)DEAF1
ZODIACDEAF1
Ontologies - Pathways
QuickGOO75398
Ontology : AmiGOfibrillar center  behavioral fear response  neural tube closure  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  extracellular region  nucleus  nucleus  transcription factor complex  cytoplasm  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  germ cell development  visual learning  anatomical structure morphogenesis  regulation of mammary gland epithelial cell proliferation  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  metal ion binding  embryonic skeletal system development  
Ontology : EGO-EBIfibrillar center  behavioral fear response  neural tube closure  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  extracellular region  nucleus  nucleus  transcription factor complex  cytoplasm  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  germ cell development  visual learning  anatomical structure morphogenesis  regulation of mammary gland epithelial cell proliferation  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  metal ion binding  embryonic skeletal system development  
NDEx NetworkDEAF1
Atlas of Cancer Signalling NetworkDEAF1
Wikipedia pathwaysDEAF1
Orthology - Evolution
OrthoDB10522
GeneTree (enSembl)ENSG00000177030
Phylogenetic Trees/Animal Genes : TreeFamDEAF1
HOVERGENO75398
HOGENOMO75398
Homologs : HomoloGeneDEAF1
Homology/Alignments : Family Browser (UCSC)DEAF1
Gene fusions - Rearrangements
Fusion : MitelmanANO9/DEAF1 [11p15.5/11p15.5]  [t(11;11)(p15;p15)]  
Fusion : MitelmanDEAF1/PDDC1 [11p15.5/11p15.5]  [t(11;11)(p15;p15)]  
Fusion : MitelmanRNH1/DEAF1 [11p15.5/11p15.5]  [t(11;11)(p15;p15)]  
Fusion: TCGA_MDACCANO9 11p15.5 DEAF1 11p15.5 BRCA
Fusion: TCGA_MDACCDEAF1 11p15.5 PDDC1 11p15.5 BRCA
Fusion: TCGA_MDACCRNH1 11p15.5 DEAF1 11p15.5 BRCA
Tumor Fusion PortalDEAF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEAF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEAF1
dbVarDEAF1
ClinVarDEAF1
1000_GenomesDEAF1 
Exome Variant ServerDEAF1
ExAC (Exome Aggregation Consortium)ENSG00000177030
GNOMAD BrowserENSG00000177030
Genetic variants : HAPMAP10522
Genomic Variants (DGV)DEAF1 [DGVbeta]
DECIPHERDEAF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEAF1 
Mutations
ICGC Data PortalDEAF1 
TCGA Data PortalDEAF1 
Broad Tumor PortalDEAF1
OASIS PortalDEAF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEAF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEAF1
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 DEAF1
DgiDB (Drug Gene Interaction Database)DEAF1
DoCM (Curated mutations)DEAF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEAF1 (select a term)
intoGenDEAF1
Cancer3DDEAF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602635    615828    617171   
Orphanet18028   
DisGeNETDEAF1
MedgenDEAF1
Genetic Testing Registry DEAF1
NextProtO75398 [Medical]
TSGene10522
GENETestsDEAF1
Target ValidationDEAF1
Huge Navigator DEAF1 [HugePedia]
snp3D : Map Gene to Disease10522
BioCentury BCIQDEAF1
ClinGenDEAF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10522
Chemical/Pharm GKB GenePA27234
Clinical trialDEAF1
Miscellaneous
canSAR (ICR)DEAF1 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEAF1
EVEXDEAF1
GoPubMedDEAF1
iHOPDEAF1
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 : Tue Nov 21 14:10:18 CET 2017

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