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DIAPH3 (diaphanous related formin 3)

Identity

Alias_namesAUNA1
diaphanous (Drosophila, homolog) 3
auditory neuropathy, autosomal dominant 1
diaphanous homolog 3 (Drosophila)
Alias_symbol (synonym)DRF3
FLJ34705
AN
NSDAN
Other aliasDIA2
diap3
mDia2
HGNC (Hugo) DIAPH3
LocusID (NCBI) 81624
Atlas_Id 53110
Location 13q21.2  [Link to chromosome band 13q21]
Location_base_pair Starts at 59665589 and ends at 60163985 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DIAPH3 (13q21.2) / DIAPH3 (13q21.2)DIAPH3 (13q21.2) / GPA33 (1q24.1)DIAPH3 (13q21.2) / KIAA1324L (7q21.12)
DIAPH3 (13q21.2) / TDRD3 (13q21.2)PARD6B (20q13.13) / DIAPH3 (13q21.2)PCCA (13q32.3) / DIAPH3 (13q21.2)
R3HDML (20q13.12) / DIAPH3 (13q21.2)RPS6KB1 (17q23.1) / DIAPH3 (13q21.2)TDRD3 (13q21.2) / DIAPH3 (13q21.2)
TXN2 (22q12.3) / DIAPH3 (13q21.2)DIAPH3 13q21.2 / TDRD3 13q21.2PCCA 13q32.3 / DIAPH3 13q21.2
TDRD3 13q21.2 / DIAPH3 13q21.2

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)DIAPH3   15480
Cards
Entrez_Gene (NCBI)DIAPH3  81624  diaphanous related formin 3
AliasesAN; AUNA1; DIA2; DRF3; 
NSDAN; diap3; mDia2
GeneCards (Weizmann)DIAPH3
Ensembl hg19 (Hinxton)ENSG00000139734 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139734 [Gene_View]  chr13:59665589-60163985 [Contig_View]  DIAPH3 [Vega]
ICGC DataPortalENSG00000139734
TCGA cBioPortalDIAPH3
AceView (NCBI)DIAPH3
Genatlas (Paris)DIAPH3
WikiGenes81624
SOURCE (Princeton)DIAPH3
Genetics Home Reference (NIH)DIAPH3
Genomic and cartography
GoldenPath hg38 (UCSC)DIAPH3  -     chr13:59665589-60163985 -  13q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DIAPH3  -     13q21.2   [Description]    (hg19-Feb_2009)
EnsemblDIAPH3 - 13q21.2 [CytoView hg19]  DIAPH3 - 13q21.2 [CytoView hg38]
Mapping of homologs : NCBIDIAPH3 [Mapview hg19]  DIAPH3 [Mapview hg38]
OMIM609129   614567   
Gene and transcription
Genbank (Entrez)AB244756 AB244757 AB244758 AK092024 AK298509
RefSeq transcript (Entrez)NM_001042517 NM_001258366 NM_001258367 NM_001258368 NM_001258369 NM_001258370 NM_030932
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DIAPH3
Cluster EST : UnigeneHs.283127 [ NCBI ]
CGAP (NCI)Hs.283127
Alternative Splicing GalleryENSG00000139734
Gene ExpressionDIAPH3 [ NCBI-GEO ]   DIAPH3 [ EBI - ARRAY_EXPRESS ]   DIAPH3 [ SEEK ]   DIAPH3 [ MEM ]
Gene Expression Viewer (FireBrowse)DIAPH3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81624
GTEX Portal (Tissue expression)DIAPH3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NSV4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NSV4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NSV4
Splice isoforms : SwissVarQ9NSV4
PhosPhoSitePlusQ9NSV4
Domaine pattern : Prosite (Expaxy)DAD (PS51231)    FH2 (PS51444)    GBD_FH3 (PS51232)   
Domains : Interpro (EBI)ARM-type_fold    DAD_dom    Drf_DAD    FH2_Formin    FH3_dom    Formin_DIAPH3    GBD/FH3_dom    GTPase-bd   
Domain families : Pfam (Sanger)Drf_DAD (PF06345)    Drf_FH3 (PF06367)    Drf_GBD (PF06371)    FH2 (PF02181)   
Domain families : Pfam (NCBI)pfam06345    pfam06367    pfam06371    pfam02181   
Domain families : Smart (EMBL)Drf_FH3 (SM01139)  Drf_GBD (SM01140)  FH2 (SM00498)  
Conserved Domain (NCBI)DIAPH3
DMDM Disease mutations81624
Blocks (Seattle)DIAPH3
SuperfamilyQ9NSV4
Human Protein AtlasENSG00000139734
Peptide AtlasQ9NSV4
HPRD10884
IPIIPI00747250   IPI00655865   IPI00789805   IPI00794752   IPI00791213   IPI00791794   IPI00855715   IPI00942390   IPI00936715   
Protein Interaction databases
DIP (DOE-UCLA)Q9NSV4
IntAct (EBI)Q9NSV4
FunCoupENSG00000139734
BioGRIDDIAPH3
STRING (EMBL)DIAPH3
ZODIACDIAPH3
Ontologies - Pathways
QuickGOQ9NSV4
Ontology : AmiGOactin binding  nucleus  cytosol  spermatogenesis  Rho GTPase binding  actin cytoskeleton organization  cadherin binding  
Ontology : EGO-EBIactin binding  nucleus  cytosol  spermatogenesis  Rho GTPase binding  actin cytoskeleton organization  cadherin binding  
Pathways : KEGGRegulation of actin cytoskeleton   
NDEx NetworkDIAPH3
Atlas of Cancer Signalling NetworkDIAPH3
Wikipedia pathwaysDIAPH3
Orthology - Evolution
OrthoDB81624
GeneTree (enSembl)ENSG00000139734
Phylogenetic Trees/Animal Genes : TreeFamDIAPH3
HOVERGENQ9NSV4
HOGENOMQ9NSV4
Homologs : HomoloGeneDIAPH3
Homology/Alignments : Family Browser (UCSC)DIAPH3
Gene fusions - Rearrangements
Fusion : MitelmanDIAPH3/TDRD3 [13q21.2/13q21.2]  
Fusion : MitelmanPCCA/DIAPH3 [13q32.3/13q21.2]  [t(13;13)(q21;q32)]  
Fusion : MitelmanRPS6KB1/DIAPH3 [17q23.1/13q21.2]  [t(13;17)(q21;q23)]  
Fusion : MitelmanTDRD3/DIAPH3 [13q21.2/13q21.2]  [t(13;13)(q21;q21)]  
Fusion: TCGADIAPH3 13q21.2 TDRD3 13q21.2 BRCA
Fusion: TCGAPCCA 13q32.3 DIAPH3 13q21.2 KIRC
Fusion: TCGATDRD3 13q21.2 DIAPH3 13q21.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDIAPH3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DIAPH3
dbVarDIAPH3
ClinVarDIAPH3
1000_GenomesDIAPH3 
Exome Variant ServerDIAPH3
ExAC (Exome Aggregation Consortium)DIAPH3 (select the gene name)
Genetic variants : HAPMAP81624
Genomic Variants (DGV)DIAPH3 [DGVbeta]
DECIPHERDIAPH3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDIAPH3 
Mutations
ICGC Data PortalDIAPH3 
TCGA Data PortalDIAPH3 
Broad Tumor PortalDIAPH3
OASIS PortalDIAPH3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDIAPH3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDIAPH3
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 DIAPH3
DgiDB (Drug Gene Interaction Database)DIAPH3
DoCM (Curated mutations)DIAPH3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DIAPH3 (select a term)
intoGenDIAPH3
Cancer3DDIAPH3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609129    614567   
Orphanet12046   
MedgenDIAPH3
Genetic Testing Registry DIAPH3
NextProtQ9NSV4 [Medical]
TSGene81624
GENETestsDIAPH3
Target ValidationDIAPH3
Huge Navigator DIAPH3 [HugePedia]
snp3D : Map Gene to Disease81624
BioCentury BCIQDIAPH3
ClinGenDIAPH3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81624
Chemical/Pharm GKB GenePA27335
Clinical trialDIAPH3
Miscellaneous
canSAR (ICR)DIAPH3 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDIAPH3
EVEXDIAPH3
GoPubMedDIAPH3
iHOPDIAPH3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 1 16:59:33 CEST 2017

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