Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DIAPH1 (diaphanous related formin 1)

Identity

Alias (NCBI)DFNA1
DIA1
DRF1
LFHL1
SCBMS
hDIA1
mDia1
HGNC (Hugo) DIAPH1
HGNC Alias symbhDIA1
LFHL1
HGNC Previous nameDFNA1
HGNC Previous namediaphanous (Drosophila, homolog) 1
 diaphanous homolog 1 (Drosophila)
LocusID (NCBI) 1729
Atlas_Id 45842
Location 5q31.3  [Link to chromosome band 5q31]
Location_base_pair Starts at 141515021 and ends at 141619000 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    diaphanous related formin 1
AliasesDFNA1; DIA1; DRF1; LFHL1; 
SCBMS; hDIA1; mDia1
GeneCards (Weizmann)DIAPH1
Ensembl hg19 (Hinxton)ENSG00000131504 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131504 [Gene_View]  ENSG00000131504 [Sequence]  chr5:141515021-141619000 [Contig_View]  DIAPH1 [Vega]
ICGC DataPortalENSG00000131504
TCGA cBioPortalDIAPH1
AceView (NCBI)DIAPH1
Genatlas (Paris)DIAPH1
SOURCE (Princeton)DIAPH1
Genetics Home Reference (NIH)DIAPH1
Genomic and cartography
GoldenPath hg38 (UCSC)DIAPH1  -     chr5:141515021-141619000 -  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
Genome Data Viewer NCBIDIAPH1 [Mapview hg19]  
OMIM124900   602121   616632   
Gene and transcription
Genbank (Entrez)AB209482 AF051782 AK023345 AK057994 AK094264
RefSeq transcript (Entrez)NM_001079812 NM_001314007 NM_005219
Consensus coding sequences : CCDS (NCBI)DIAPH1
Gene ExpressionDIAPH1 [ NCBI-GEO ]   DIAPH1 [ EBI - ARRAY_EXPRESS ]   DIAPH1 [ SEEK ]   DIAPH1 [ MEM ]
Gene Expression Viewer (FireBrowse)DIAPH1 [ Firebrowse - Broad ]
GenevisibleExpression of DIAPH1 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
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    FH2_Formin_sf    FH3_dom    Formin_Diaph1    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)DIAPH1
SuperfamilyO60610
AlphaFold pdb e-kbO60610   
Human Protein Atlas [tissue]ENSG00000131504-DIAPH1 [tissue]
HPRD03670
Protein Interaction databases
DIP (DOE-UCLA)O60610
IntAct (EBI)O60610
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  actin cytoskeleton organization  actin filament polymerization  positive regulation of cell migration  secretory granule membrane  small GTPase binding  ruffle membrane  regulation of microtubule-based process  protein localization to microtubule  transmembrane transporter 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  
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  actin cytoskeleton organization  actin filament polymerization  positive regulation of cell migration  secretory granule membrane  small GTPase binding  ruffle membrane  regulation of microtubule-based process  protein localization to microtubule  transmembrane transporter 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  
Pathways : BIOCARTABIOCARTA_ECMPATHWAY    BIOCARTA_RHOPATHWAY    BIOCARTA_MALPATHWAY   
Pathways : KEGGKEGG_FOCAL_ADHESION    KEGG_REGULATION_OF_ACTIN_CYTOSKELETON   
NDEx NetworkDIAPH1
Atlas of Cancer Signalling NetworkDIAPH1
Wikipedia pathwaysDIAPH1
Orthology - Evolution
OrthoDB1729
GeneTree (enSembl)ENSG00000131504
Phylogenetic Trees/Animal Genes : TreeFamDIAPH1
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
MonarchDIAPH1
1000_GenomesDIAPH1 
Exome Variant ServerDIAPH1
GNOMAD BrowserENSG00000131504
Varsome BrowserDIAPH1
ACMGDIAPH1 variants
VarityO60610
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)[gene] [transcripts] [variants]
BioMutaDIAPH1
DgiDB (Drug Gene Interaction Database)DIAPH1
DoCM (Curated mutations)DIAPH1
CIViC (Clinical Interpretations of Variants in Cancer)DIAPH1
Cancer3DDIAPH1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM124900    602121    616632   
Orphanet25676    25159   
DisGeNETDIAPH1
MedgenDIAPH1
Genetic Testing Registry DIAPH1
NextProtO60610 [Medical]
GENETestsDIAPH1
Target ValidationDIAPH1
Huge Navigator DIAPH1 [HugePedia]
ClinGenDIAPH1
Clinical trials, drugs, therapy
MyCancerGenomeDIAPH1
Protein Interactions : CTDDIAPH1
Pharm GKB GenePA27333
PharosO60610
Clinical trialDIAPH1
Miscellaneous
canSAR (ICR)DIAPH1
HarmonizomeDIAPH1
ARCHS4DIAPH1
DataMed IndexDIAPH1
Probes
Litterature
PubMed154 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDIAPH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:30:33 CET 2022
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