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IRF6 (interferon regulatory factor 6)

Identity

Alias_namesVWS
LPS
Van der Woude syndrome
Alias_symbol (synonym)OFC6
VWS1
HGNC (Hugo) IRF6
LocusID (NCBI) 3664
Atlas_Id 52118
Location 1q32.2  [Link to chromosome band 1q32]
Location_base_pair Starts at 209958968 and ends at 209979520 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
IRF6 (1q32.2) / C1orf74 (1q32.2)IRF6 (1q32.2) / IRF6 (1q32.2)IRF6 (1q32.2) / JUP (17q21.2)

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)IRF6   6121
Cards
Entrez_Gene (NCBI)IRF6  3664  interferon regulatory factor 6
AliasesLPS; OFC6; PIT; PPS; 
PPS1; VWS; VWS1
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
TCGA cBioPortalIRF6
AceView (NCBI)IRF6
Genatlas (Paris)IRF6
WikiGenes3664
SOURCE (Princeton)IRF6
Genetics Home Reference (NIH)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)NC_000001 NC_018912 NG_007081 NT_004487 NW_004929294
Consensus coding sequences : CCDS (NCBI)IRF6
Cluster EST : UnigeneHs.591415 [ NCBI ]
CGAP (NCI)Hs.591415
Alternative Splicing GalleryENSG00000117595
Gene ExpressionIRF6 [ NCBI-GEO ]   IRF6 [ EBI - ARRAY_EXPRESS ]   IRF6 [ SEEK ]   IRF6 [ MEM ]
Gene Expression Viewer (FireBrowse)IRF6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3664
GTEX Portal (Tissue expression)IRF6
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14896   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14896  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14896
Splice isoforms : SwissVarO14896
PhosPhoSitePlusO14896
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   
Domain families : Pfam (Sanger)IRF (PF00605)    IRF-3 (PF10401)   
Domain families : Pfam (NCBI)pfam00605    pfam10401   
Domain families : Smart (EMBL)IRF (SM00348)  
Conserved Domain (NCBI)IRF6
DMDM Disease mutations3664
Blocks (Seattle)IRF6
SuperfamilyO14896
Human Protein AtlasENSG00000117595
Peptide AtlasO14896
HPRD06227
IPIIPI00024290   IPI01012366   IPI00645422   
Protein Interaction databases
DIP (DOE-UCLA)O14896
IntAct (EBI)O14896
FunCoupENSG00000117595
BioGRIDIRF6
STRING (EMBL)IRF6
ZODIACIRF6
Ontologies - Pathways
QuickGOO14896
Ontology : AmiGOregulatory region DNA binding  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  cytoplasm  cytosol  transcription, DNA-templated  cell cycle arrest  negative regulation of cell proliferation  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 exosome  
Ontology : EGO-EBIregulatory region DNA binding  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  cytoplasm  cytosol  transcription, DNA-templated  cell cycle arrest  negative regulation of cell proliferation  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 exosome  
NDEx NetworkIRF6
Atlas of Cancer Signalling NetworkIRF6
Wikipedia pathwaysIRF6
Orthology - Evolution
OrthoDB3664
GeneTree (enSembl)ENSG00000117595
Phylogenetic Trees/Animal Genes : TreeFamIRF6
HOVERGENO14896
HOGENOMO14896
Homologs : HomoloGeneIRF6
Homology/Alignments : Family Browser (UCSC)IRF6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIRF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IRF6
dbVarIRF6
ClinVarIRF6
1000_GenomesIRF6 
Exome Variant ServerIRF6
ExAC (Exome Aggregation Consortium)IRF6 (select the gene name)
Genetic variants : HAPMAP3664
Genomic Variants (DGV)IRF6 [DGVbeta]
DECIPHER (Syndromes)1:209958968-209979520  ENSG00000117595
CONAN: Copy Number AnalysisIRF6 
Mutations
ICGC Data PortalIRF6 
TCGA Data PortalIRF6 
Broad Tumor PortalIRF6
OASIS PortalIRF6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIRF6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIRF6
intOGen PortalIRF6
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 IRF6
DgiDB (Drug Gene Interaction Database)IRF6
DoCM (Curated mutations)IRF6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IRF6 (select a term)
intoGenIRF6
Cancer3DIRF6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM119300    119500    607199    608864   
Orphanet967    1534    14371   
MedgenIRF6
Genetic Testing Registry IRF6
NextProtO14896 [Medical]
TSGene3664
GENETestsIRF6
Huge Navigator IRF6 [HugePedia]
snp3D : Map Gene to Disease3664
BioCentury BCIQIRF6
ClinGenIRF6 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3664
Chemical/Pharm GKB GenePA29920
Clinical trialIRF6
Miscellaneous
canSAR (ICR)IRF6 (select the gene name)
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIRF6
EVEXIRF6
GoPubMedIRF6
iHOPIRF6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:40:39 CET 2016

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