Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DIAPH1 (diaphanous related formin 1)

Identity

Alias_namesDFNA1
diaphanous (Drosophila, homolog) 1
diaphanous homolog 1 (Drosophila)
Alias_symbol (synonym)hDIA1
LFHL1
Other aliasDIA1
DRF1
SCBMS
HGNC (Hugo) DIAPH1
LocusID (NCBI) 1729
Atlas_Id 45842
Location 5q31.3  [Link to chromosome band 5q31]
Location_base_pair Starts at 141515021 and ends at 141619055 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)
ASL (7q11.21) / DIAPH1 (5q31.3)DIAPH1 (5q31.3) / NDFIP1 (5q31.3)HOXB8 (17q21.32) / DIAPH1 (5q31.3)
LOC146880 (17q24.1) / DIAPH1 (5q31.3)PICALM (11q14.2) / DIAPH1 (5q31.3)RPL35 (9q33.3) / DIAPH1 (5q31.3)

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)DIAPH1   2876
LRG (Locus Reference Genomic)LRG_1117
Cards
Entrez_Gene (NCBI)DIAPH1  1729  diaphanous related formin 1
AliasesDFNA1; DIA1; DRF1; LFHL1; 
SCBMS; hDIA1
GeneCards (Weizmann)DIAPH1
Ensembl hg19 (Hinxton)ENSG00000131504 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131504 [Gene_View]  ENSG00000131504 [Sequence]  chr5:141515021-141619055 [Contig_View]  DIAPH1 [Vega]
ICGC DataPortalENSG00000131504
TCGA cBioPortalDIAPH1
AceView (NCBI)DIAPH1
Genatlas (Paris)DIAPH1
WikiGenes1729
SOURCE (Princeton)DIAPH1
Genetics Home Reference (NIH)DIAPH1
Genomic and cartography
GoldenPath hg38 (UCSC)DIAPH1  -     chr5:141515021-141619055 -  5q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DIAPH1  -     5q31.3   [Description]    (hg19-Feb_2009)
GoldenPathDIAPH1 - 5q31.3 [CytoView hg19]  DIAPH1 - 5q31.3 [CytoView hg38]
ImmunoBaseENSG00000131504
Mapping of homologs : NCBIDIAPH1 [Mapview hg19]  DIAPH1 [Mapview hg38]
OMIM124900   602121   616632   
Gene and transcription
Genbank (Entrez)AB209482 AF051782 AK023345 AK057994 AK094264
RefSeq transcript (Entrez)NM_001079812 NM_001314007 NM_005219
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DIAPH1
Cluster EST : UnigeneHs.529451 [ NCBI ]
CGAP (NCI)Hs.529451
Alternative Splicing GalleryENSG00000131504
Gene ExpressionDIAPH1 [ NCBI-GEO ]   DIAPH1 [ EBI - ARRAY_EXPRESS ]   DIAPH1 [ SEEK ]   DIAPH1 [ MEM ]
Gene Expression Viewer (FireBrowse)DIAPH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1729
GTEX Portal (Tissue expression)DIAPH1
Human Protein AtlasENSG00000131504-DIAPH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60610   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60610  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60610
Splice isoforms : SwissVarO60610
PhosPhoSitePlusO60610
Domaine pattern : Prosite (Expaxy)DAD (PS51231)    FH2 (PS51444)    GBD_FH3 (PS51232)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    DAD_dom    Drf_DAD    FH2_Formin    FH3_dom    Formin_Diaph1    Formin_homology_1    GBD/FH3_dom    GTPase-bd   
Domain families : Pfam (Sanger)Drf_DAD (PF06345)    Drf_FH1 (PF06346)    Drf_FH3 (PF06367)    Drf_GBD (PF06371)    FH2 (PF02181)   
Domain families : Pfam (NCBI)pfam06345    pfam06346    pfam06367    pfam06371    pfam02181   
Domain families : Smart (EMBL)Drf_FH3 (SM01139)  Drf_GBD (SM01140)  FH2 (SM00498)  
Conserved Domain (NCBI)DIAPH1
DMDM Disease mutations1729
Blocks (Seattle)DIAPH1
SuperfamilyO60610
Human Protein Atlas [tissue]ENSG00000131504-DIAPH1 [tissue]
Peptide AtlasO60610
HPRD03670
IPIIPI00852685   IPI00884341   IPI00936881   IPI00978163   IPI00936125   IPI01009439   IPI00935307   IPI00924442   IPI00852763   IPI00978867   
Protein Interaction databases
DIP (DOE-UCLA)O60610
IntAct (EBI)O60610
FunCoupENSG00000131504
BioGRIDDIAPH1
STRING (EMBL)DIAPH1
ZODIACDIAPH1
Ontologies - Pathways
QuickGOO60610
Ontology : AmiGORNA binding  actin binding  signaling receptor binding  protein binding  nucleus  cytoplasm  microtubule organizing center  cytosol  plasma membrane  cytoskeleton organization  cytoskeleton organization  sensory perception of sound  regulation of cell shape  Rho GTPase binding  actin cytoskeleton organization  actin filament polymerization  positive regulation of cell migration  secretory granule membrane  ruffle membrane  regulation of microtubule-based process  protein localization to microtubule  neutrophil degranulation  ion channel binding  regulation of release of sequestered calcium ion into cytosol  regulation of cytoskeleton organization  cellular response to histamine  mitotic spindle  ficolin-1-rich granule membrane  regulation of cell motility  
Ontology : EGO-EBIRNA binding  actin binding  signaling receptor binding  protein binding  nucleus  cytoplasm  microtubule organizing center  cytosol  plasma membrane  cytoskeleton organization  cytoskeleton organization  sensory perception of sound  regulation of cell shape  Rho GTPase binding  actin cytoskeleton organization  actin filament polymerization  positive regulation of cell migration  secretory granule membrane  ruffle membrane  regulation of microtubule-based process  protein localization to microtubule  neutrophil degranulation  ion channel binding  regulation of release of sequestered calcium ion into cytosol  regulation of cytoskeleton organization  cellular response to histamine  mitotic spindle  ficolin-1-rich granule membrane  regulation of cell motility  
Pathways : KEGGFocal adhesion    Regulation of actin cytoskeleton    Shigellosis   
NDEx NetworkDIAPH1
Atlas of Cancer Signalling NetworkDIAPH1
Wikipedia pathwaysDIAPH1
Orthology - Evolution
OrthoDB1729
GeneTree (enSembl)ENSG00000131504
Phylogenetic Trees/Animal Genes : TreeFamDIAPH1
HOGENOMO60610
Homologs : HomoloGeneDIAPH1
Homology/Alignments : Family Browser (UCSC)DIAPH1
Gene fusions - Rearrangements
Fusion : QuiverDIAPH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDIAPH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DIAPH1
dbVarDIAPH1
ClinVarDIAPH1
1000_GenomesDIAPH1 
Exome Variant ServerDIAPH1
ExAC (Exome Aggregation Consortium)ENSG00000131504
GNOMAD BrowserENSG00000131504
Varsome BrowserDIAPH1
Genetic variants : HAPMAP1729
Genomic Variants (DGV)DIAPH1 [DGVbeta]
DECIPHERDIAPH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDIAPH1 
Mutations
ICGC Data PortalDIAPH1 
TCGA Data PortalDIAPH1 
Broad Tumor PortalDIAPH1
OASIS PortalDIAPH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDIAPH1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDIAPH1
Mutations and Diseases : HGMDDIAPH1
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 DIAPH1
DgiDB (Drug Gene Interaction Database)DIAPH1
DoCM (Curated mutations)DIAPH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DIAPH1 (select a term)
intoGenDIAPH1
Cancer3DDIAPH1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM124900    602121    616632   
Orphanet12046   
DisGeNETDIAPH1
MedgenDIAPH1
Genetic Testing Registry DIAPH1
NextProtO60610 [Medical]
TSGene1729
GENETestsDIAPH1
Target ValidationDIAPH1
Huge Navigator DIAPH1 [HugePedia]
snp3D : Map Gene to Disease1729
BioCentury BCIQDIAPH1
ClinGenDIAPH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1729
Chemical/Pharm GKB GenePA27333
Clinical trialDIAPH1
Miscellaneous
canSAR (ICR)DIAPH1 (select the gene name)
DataMed IndexDIAPH1
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDIAPH1
EVEXDIAPH1
GoPubMedDIAPH1
iHOPDIAPH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:40:23 CET 2019
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