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DEF6 (DEF6, guanine nucleotide exchange factor)

Identity

Alias_namesdifferentially expressed in FDCP (mouse homolog) 6
differentially expressed in FDCP 6 homolog (mouse)
Alias_symbol (synonym)IBP
SLAT
SWAP70L
Other alias
HGNC (Hugo) DEF6
LocusID (NCBI) 50619
Atlas_Id 43226
Location 6p21.31  [Link to chromosome band 6p21]
Location_base_pair Starts at 35297818 and ends at 35321771 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)
C16orf82 (16p12.1) / DEF6 (6p21.31)DEF6 (6p21.31) / PPARD (6p21.31)DEF6 (6p21.31) / ZP3 (7q11.23)

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)DEF6   2760
Cards
Entrez_Gene (NCBI)DEF6  50619  DEF6, guanine nucleotide exchange factor
AliasesIBP; SLAT; SWAP70L
GeneCards (Weizmann)DEF6
Ensembl hg19 (Hinxton)ENSG00000023892 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000023892 [Gene_View]  ENSG00000023892 [Sequence]  chr6:35297818-35321771 [Contig_View]  DEF6 [Vega]
ICGC DataPortalENSG00000023892
TCGA cBioPortalDEF6
AceView (NCBI)DEF6
Genatlas (Paris)DEF6
WikiGenes50619
SOURCE (Princeton)DEF6
Genetics Home Reference (NIH)DEF6
Genomic and cartography
GoldenPath hg38 (UCSC)DEF6  -     chr6:35297818-35321771 +  6p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DEF6  -     6p21.31   [Description]    (hg19-Feb_2009)
EnsemblDEF6 - 6p21.31 [CytoView hg19]  DEF6 - 6p21.31 [CytoView hg38]
Mapping of homologs : NCBIDEF6 [Mapview hg19]  DEF6 [Mapview hg38]
OMIM610094   
Gene and transcription
Genbank (Entrez)AJ276095 AK093613 AK314756 AL110182 AY241694
RefSeq transcript (Entrez)NM_022047
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DEF6
Cluster EST : UnigeneHs.15476 [ NCBI ]
CGAP (NCI)Hs.15476
Alternative Splicing GalleryENSG00000023892
Gene ExpressionDEF6 [ NCBI-GEO ]   DEF6 [ EBI - ARRAY_EXPRESS ]   DEF6 [ SEEK ]   DEF6 [ MEM ]
Gene Expression Viewer (FireBrowse)DEF6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50619
GTEX Portal (Tissue expression)DEF6
Human Protein AtlasENSG00000023892-DEF6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H4E7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H4E7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H4E7
Splice isoforms : SwissVarQ9H4E7
PhosPhoSitePlusQ9H4E7
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)EF-hand-dom_pair    PH-like_dom_sf    PH_domain   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)DEF6
DMDM Disease mutations50619
Blocks (Seattle)DEF6
SuperfamilyQ9H4E7
Human Protein Atlas [tissue]ENSG00000023892-DEF6 [tissue]
Peptide AtlasQ9H4E7
HPRD10869
IPIIPI00004924   IPI01012442   IPI00514498   
Protein Interaction databases
DIP (DOE-UCLA)Q9H4E7
IntAct (EBI)Q9H4E7
FunCoupENSG00000023892
BioGRIDDEF6
STRING (EMBL)DEF6
ZODIACDEF6
Ontologies - Pathways
QuickGOQ9H4E7
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  cytoplasm  cytosol  cytoskeleton  plasma membrane  membrane  filopodium  perinuclear region of cytoplasm  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  cytoplasm  cytosol  cytoskeleton  plasma membrane  membrane  filopodium  perinuclear region of cytoplasm  
NDEx NetworkDEF6
Atlas of Cancer Signalling NetworkDEF6
Wikipedia pathwaysDEF6
Orthology - Evolution
OrthoDB50619
GeneTree (enSembl)ENSG00000023892
Phylogenetic Trees/Animal Genes : TreeFamDEF6
HOVERGENQ9H4E7
HOGENOMQ9H4E7
Homologs : HomoloGeneDEF6
Homology/Alignments : Family Browser (UCSC)DEF6
Gene fusions - Rearrangements
Fusion : QuiverDEF6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDEF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DEF6
dbVarDEF6
ClinVarDEF6
1000_GenomesDEF6 
Exome Variant ServerDEF6
ExAC (Exome Aggregation Consortium)ENSG00000023892
GNOMAD BrowserENSG00000023892
Varsome BrowserDEF6
Genetic variants : HAPMAP50619
Genomic Variants (DGV)DEF6 [DGVbeta]
DECIPHERDEF6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDEF6 
Mutations
ICGC Data PortalDEF6 
TCGA Data PortalDEF6 
Broad Tumor PortalDEF6
OASIS PortalDEF6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDEF6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDEF6
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 DEF6
DgiDB (Drug Gene Interaction Database)DEF6
DoCM (Curated mutations)DEF6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DEF6 (select a term)
intoGenDEF6
Cancer3DDEF6(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610094   
Orphanet
DisGeNETDEF6
MedgenDEF6
Genetic Testing Registry DEF6
NextProtQ9H4E7 [Medical]
TSGene50619
GENETestsDEF6
Target ValidationDEF6
Huge Navigator DEF6 [HugePedia]
snp3D : Map Gene to Disease50619
BioCentury BCIQDEF6
ClinGenDEF6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50619
Chemical/Pharm GKB GenePA27237
Clinical trialDEF6
Miscellaneous
canSAR (ICR)DEF6 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDEF6
EVEXDEF6
GoPubMedDEF6
iHOPDEF6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:02:05 CET 2018

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