Atlas of Genetics and Cytogenetics in Oncology and Haematology


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IRF6 (interferon regulatory factor 6)

Identity

Other namesLPS
OFC6
PIT
PPS
PPS1
VWS
VWS1
HGNC (Hugo) IRF6
LocusID (NCBI) 3664
Location 1q32.2
Location_base_pair Starts at 209958968 and ends at 209979520 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)IRF6   6121
Cards
Entrez_Gene (NCBI)IRF6  3664  interferon regulatory factor 6
GeneCards (Weizmann)IRF6
Ensembl hg19 (Hinxton)ENSG00000117595 [Gene_View]  chr1:209958968-209979520 [Contig_View]  IRF6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000117595 [Gene_View]  chr1:209958968-209979520 [Contig_View]  IRF6 [Vega]
ICGC DataPortalENSG00000117595
cBioPortalIRF6
AceView (NCBI)IRF6
Genatlas (Paris)IRF6
WikiGenes3664
SOURCE (Princeton)IRF6
Genomic and cartography
GoldenPath hg19 (UCSC)IRF6  -     chr1:209958968-209979520 -  1q32.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IRF6  -     1q32.2   [Description]    (hg38-Dec_2013)
EnsemblIRF6 - 1q32.2 [CytoView hg19]  IRF6 - 1q32.2 [CytoView hg38]
Mapping of homologs : NCBIIRF6 [Mapview hg19]  IRF6 [Mapview hg38]
OMIM119300   119500   607199   608864   
Gene and transcription
Genbank (Entrez)AF027292 AK296960 AK312857 BC014852 BI770148
RefSeq transcript (Entrez)NM_001206696 NM_006147
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_007081 NT_004487 NW_001838537 NW_004929294
Consensus coding sequences : CCDS (NCBI)IRF6
Cluster EST : UnigeneHs.591415 [ NCBI ]
CGAP (NCI)Hs.591415
Alternative Splicing : Fast-db (Paris)GSHG0002930
Alternative Splicing GalleryENSG00000117595
Gene ExpressionIRF6 [ NCBI-GEO ]     IRF6 [ SEEK ]   IRF6 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14896 (Uniprot)
NextProtO14896  [Medical]
With graphics : InterProO14896
Splice isoforms : SwissVarO14896 (Swissvar)
Domaine pattern : Prosite (Expaxy)IRF_1 (PS00601)    IRF_2 (PS51507)   
Domains : Interpro (EBI)Interferon_reg_fac_CS    Interferon_reg_fact_DNA-bd_dom    Interferon_reg_factor-3    SMAD_dom-like    SMAD_FHA_domain    WHTH_DNA-bd_dom   
Related proteins : CluSTrO14896
Domain families : Pfam (Sanger)IRF (PF00605)    IRF-3 (PF10401)   
Domain families : Pfam (NCBI)pfam00605    pfam10401   
Domain families : Smart (EMBL)IRF (SM00348)  
DMDM Disease mutations3664
Blocks (Seattle)O14896
Human Protein AtlasENSG00000117595
Peptide AtlasO14896
HPRD06227
IPIIPI00024290   IPI01012366   IPI00645422   
Protein Interaction databases
DIP (DOE-UCLA)O14896
IntAct (EBI)O14896
FunCoupENSG00000117595
BioGRIDIRF6
IntegromeDBIRF6
STRING (EMBL)IRF6
Ontologies - Pathways
QuickGOO14896
Ontology : AmiGOregulatory region DNA binding  DNA binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  cytoplasm  cytosol  transcription, DNA-templated  cell cycle arrest  negative regulation of cell proliferation  cytokine-mediated signaling pathway  keratinocyte differentiation  keratinocyte proliferation  positive regulation of transcription, DNA-templated  cell development  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  mammary gland epithelial cell differentiation  extracellular vesicular exosome  
Ontology : EGO-EBIregulatory region DNA binding  DNA binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  cytoplasm  cytosol  transcription, DNA-templated  cell cycle arrest  negative regulation of cell proliferation  cytokine-mediated signaling pathway  keratinocyte differentiation  keratinocyte proliferation  positive regulation of transcription, DNA-templated  cell development  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  mammary gland epithelial cell differentiation  extracellular vesicular exosome  
Protein Interaction DatabaseIRF6
DoCM (Curated mutations)IRF6
Wikipedia pathwaysIRF6
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerIRF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IRF6
dbVarIRF6
ClinVarIRF6
1000_GenomesIRF6 
Exome Variant ServerIRF6
SNP (GeneSNP Utah)IRF6
SNP : HGBaseIRF6
Genetic variants : HAPMAPIRF6
Genomic VariantsIRF6  IRF6 [DGVbeta]
Mutations
ICGC Data PortalENSG00000117595 
Somatic Mutations in Cancer : COSMICIRF6 
CONAN: Copy Number AnalysisIRF6 
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
LOVD (Leiden Open Variation Database)Cleft Lip and Palate Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:209958968-209979520
Mutations and Diseases : HGMDIRF6
OMIM119300    119500    607199    608864   
MedgenIRF6
NextProtO14896 [Medical]
GENETestsIRF6
Disease Genetic AssociationIRF6
Huge Navigator IRF6 [HugePedia]  IRF6 [HugeCancerGEM]
snp3D : Map Gene to Disease3664
DGIdb (Drug Gene Interaction db)IRF6
General knowledge
Homologs : HomoloGeneIRF6
Homology/Alignments : Family Browser (UCSC)IRF6
Phylogenetic Trees/Animal Genes : TreeFamIRF6
Chemical/Protein Interactions : CTD3664
Chemical/Pharm GKB GenePA29920
Clinical trialIRF6
Cancer Resource (Charite)ENSG00000117595
Other databases
Probes
Litterature
PubMed109 Pubmed reference(s) in Entrez
CoreMineIRF6
GoPubMedIRF6
iHOPIRF6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 22:11:57 CET 2014

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