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EGFL6 (EGF like domain multiple 6)

Identity

Alias_namesMAEG
MAM and EGF domain containing
EGF-like-domain, multiple 6
Other aliasW80
HGNC (Hugo) EGFL6
LocusID (NCBI) 25975
Atlas_Id 40418
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 13569575 and ends at 13633575 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RAB9A (Xp22.2) / EGFL6 (Xp22.2)RAB9A Xp22.2 / EGFL6 Xp22.2

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)EGFL6   3235
Cards
Entrez_Gene (NCBI)EGFL6  25975  EGF like domain multiple 6
AliasesMAEG; W80
GeneCards (Weizmann)EGFL6
Ensembl hg19 (Hinxton)ENSG00000198759 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198759 [Gene_View]  chrX:13569575-13633575 [Contig_View]  EGFL6 [Vega]
ICGC DataPortalENSG00000198759
TCGA cBioPortalEGFL6
AceView (NCBI)EGFL6
Genatlas (Paris)EGFL6
WikiGenes25975
SOURCE (Princeton)EGFL6
Genetics Home Reference (NIH)EGFL6
Genomic and cartography
GoldenPath hg38 (UCSC)EGFL6  -     chrX:13569575-13633575 +  Xp22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EGFL6  -     Xp22.2   [Description]    (hg19-Feb_2009)
EnsemblEGFL6 - Xp22.2 [CytoView hg19]  EGFL6 - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBIEGFL6 [Mapview hg19]  EGFL6 [Mapview hg38]
OMIM300239   
Gene and transcription
Genbank (Entrez)AF186084 AF193055 AJ245671 AK075214 AK300137
RefSeq transcript (Entrez)NM_001167890 NM_015507
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EGFL6
Cluster EST : UnigeneHs.12844 [ NCBI ]
CGAP (NCI)Hs.12844
Alternative Splicing GalleryENSG00000198759
Gene ExpressionEGFL6 [ NCBI-GEO ]   EGFL6 [ EBI - ARRAY_EXPRESS ]   EGFL6 [ SEEK ]   EGFL6 [ MEM ]
Gene Expression Viewer (FireBrowse)EGFL6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25975
GTEX Portal (Tissue expression)EGFL6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IUX8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IUX8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IUX8
Splice isoforms : SwissVarQ8IUX8
PhosPhoSitePlusQ8IUX8
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    MAM_2 (PS50060)   
Domains : Interpro (EBI)ConA-like_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Egfl6    GFP-like    Growth_fac_rcpt_    MAM_dom   
Domain families : Pfam (Sanger)EGF_CA (PF07645)    MAM (PF00629)   
Domain families : Pfam (NCBI)pfam07645    pfam00629   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  MAM (SM00137)  
Conserved Domain (NCBI)EGFL6
DMDM Disease mutations25975
Blocks (Seattle)EGFL6
SuperfamilyQ8IUX8
Human Protein AtlasENSG00000198759
Peptide AtlasQ8IUX8
HPRD02212
IPIIPI00513855   IPI00383825   IPI00910729   
Protein Interaction databases
DIP (DOE-UCLA)Q8IUX8
IntAct (EBI)Q8IUX8
FunCoupENSG00000198759
BioGRIDEGFL6
STRING (EMBL)EGFL6
ZODIACEGFL6
Ontologies - Pathways
QuickGOQ8IUX8
Ontology : AmiGOintegrin binding  calcium ion binding  basement membrane  extracellular space  cell cycle  cell adhesion  multicellular organism development  positive regulation of cell-substrate adhesion  membrane  cell differentiation  extracellular matrix organization  
Ontology : EGO-EBIintegrin binding  calcium ion binding  basement membrane  extracellular space  cell cycle  cell adhesion  multicellular organism development  positive regulation of cell-substrate adhesion  membrane  cell differentiation  extracellular matrix organization  
NDEx NetworkEGFL6
Atlas of Cancer Signalling NetworkEGFL6
Wikipedia pathwaysEGFL6
Orthology - Evolution
OrthoDB25975
GeneTree (enSembl)ENSG00000198759
Phylogenetic Trees/Animal Genes : TreeFamEGFL6
HOVERGENQ8IUX8
HOGENOMQ8IUX8
Homologs : HomoloGeneEGFL6
Homology/Alignments : Family Browser (UCSC)EGFL6
Gene fusions - Rearrangements
Fusion : MitelmanRAB9A/EGFL6 [Xp22.2/Xp22.2]  [t(X;X)(p22;p22)]  
Fusion: TCGARAB9A Xp22.2 EGFL6 Xp22.2 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEGFL6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EGFL6
dbVarEGFL6
ClinVarEGFL6
1000_GenomesEGFL6 
Exome Variant ServerEGFL6
ExAC (Exome Aggregation Consortium)EGFL6 (select the gene name)
Genetic variants : HAPMAP25975
Genomic Variants (DGV)EGFL6 [DGVbeta]
DECIPHEREGFL6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEGFL6 
Mutations
ICGC Data PortalEGFL6 
TCGA Data PortalEGFL6 
Broad Tumor PortalEGFL6
OASIS PortalEGFL6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEGFL6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEGFL6
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)X-chromosome gene database
BioMutasearch EGFL6
DgiDB (Drug Gene Interaction Database)EGFL6
DoCM (Curated mutations)EGFL6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EGFL6 (select a term)
intoGenEGFL6
Cancer3DEGFL6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300239   
Orphanet
MedgenEGFL6
Genetic Testing Registry EGFL6
NextProtQ8IUX8 [Medical]
TSGene25975
GENETestsEGFL6
Target ValidationEGFL6
Huge Navigator EGFL6 [HugePedia]
snp3D : Map Gene to Disease25975
BioCentury BCIQEGFL6
ClinGenEGFL6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25975
Chemical/Pharm GKB GenePA27668
Clinical trialEGFL6
Miscellaneous
canSAR (ICR)EGFL6 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEGFL6
EVEXEGFL6
GoPubMedEGFL6
iHOPEGFL6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:32:13 CEST 2017

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