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EHBP1L1 (EH domain binding protein 1-like 1)

Identity

Alias_symbol (synonym)DKFZp762C186
TANGERIN
Other alias-
HGNC (Hugo) EHBP1L1
LocusID (NCBI) 254102
Atlas_Id 62762
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 65343509 and ends at 65360116 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CUX1 (7q22.1) / EHBP1L1 (11q13.1)EHBP1L1 (11q13.1) / FCHSD2 (11q13.4)ITPK1 (14q32.12) / EHBP1L1 (11q13.1)
PLEC (8q24.3) / EHBP1L1 (11q13.1)

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)EHBP1L1   30682
Cards
Entrez_Gene (NCBI)EHBP1L1  254102  EH domain binding protein 1-like 1
Aliases
GeneCards (Weizmann)EHBP1L1
Ensembl hg19 (Hinxton)ENSG00000173442 [Gene_View]  chr11:65343509-65360116 [Contig_View]  EHBP1L1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000173442 [Gene_View]  chr11:65343509-65360116 [Contig_View]  EHBP1L1 [Vega]
ICGC DataPortalENSG00000173442
TCGA cBioPortalEHBP1L1
AceView (NCBI)EHBP1L1
Genatlas (Paris)EHBP1L1
WikiGenes254102
SOURCE (Princeton)EHBP1L1
Genetics Home Reference (NIH)EHBP1L1
Genomic and cartography
GoldenPath hg19 (UCSC)EHBP1L1  -     chr11:65343509-65360116 +  11q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EHBP1L1  -     11q13.1   [Description]    (hg38-Dec_2013)
EnsemblEHBP1L1 - 11q13.1 [CytoView hg19]  EHBP1L1 - 11q13.1 [CytoView hg38]
Mapping of homologs : NCBIEHBP1L1 [Mapview hg19]  EHBP1L1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK024451 AK092750 AL713799 AL834433 BC024207
RefSeq transcript (Entrez)NM_001099409
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)EHBP1L1
Cluster EST : UnigeneHs.502867 [ NCBI ]
CGAP (NCI)Hs.502867
Alternative Splicing GalleryENSG00000173442
Gene ExpressionEHBP1L1 [ NCBI-GEO ]   EHBP1L1 [ EBI - ARRAY_EXPRESS ]   EHBP1L1 [ SEEK ]   EHBP1L1 [ MEM ]
Gene Expression Viewer (FireBrowse)EHBP1L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)254102
GTEX Portal (Tissue expression)EHBP1L1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N3D4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N3D4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N3D4
Splice isoforms : SwissVarQ8N3D4
PhosPhoSitePlusQ8N3D4
Domaine pattern : Prosite (Expaxy)CH (PS50021)   
Domains : Interpro (EBI)CH-domain    DUF3585    Ehbp1l1    NT-C2   
Domain families : Pfam (Sanger)CH (PF00307)    DUF3585 (PF12130)    NT-C2 (PF10358)   
Domain families : Pfam (NCBI)pfam00307    pfam12130    pfam10358   
Domain families : Smart (EMBL)CH (SM00033)  
Conserved Domain (NCBI)EHBP1L1
DMDM Disease mutations254102
Blocks (Seattle)EHBP1L1
SuperfamilyQ8N3D4
Human Protein AtlasENSG00000173442
Peptide AtlasQ8N3D4
IPIIPI00296421   IPI00984544   IPI00985190   IPI00975630   
Protein Interaction databases
DIP (DOE-UCLA)Q8N3D4
IntAct (EBI)Q8N3D4
FunCoupENSG00000173442
BioGRIDEHBP1L1
STRING (EMBL)EHBP1L1
ZODIACEHBP1L1
Ontologies - Pathways
QuickGOQ8N3D4
Ontology : AmiGOmolecular_function  biological_process  membrane  
Ontology : EGO-EBImolecular_function  biological_process  membrane  
NDEx NetworkEHBP1L1
Atlas of Cancer Signalling NetworkEHBP1L1
Wikipedia pathwaysEHBP1L1
Orthology - Evolution
OrthoDB254102
GeneTree (enSembl)ENSG00000173442
Phylogenetic Trees/Animal Genes : TreeFamEHBP1L1
HOVERGENQ8N3D4
HOGENOMQ8N3D4
Homologs : HomoloGeneEHBP1L1
Homology/Alignments : Family Browser (UCSC)EHBP1L1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEHBP1L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EHBP1L1
dbVarEHBP1L1
ClinVarEHBP1L1
1000_GenomesEHBP1L1 
Exome Variant ServerEHBP1L1
ExAC (Exome Aggregation Consortium)EHBP1L1 (select the gene name)
Genetic variants : HAPMAP254102
Genomic Variants (DGV)EHBP1L1 [DGVbeta]
DECIPHER (Syndromes)11:65343509-65360116  ENSG00000173442
CONAN: Copy Number AnalysisEHBP1L1 
Mutations
ICGC Data PortalEHBP1L1 
TCGA Data PortalEHBP1L1 
Broad Tumor PortalEHBP1L1
OASIS PortalEHBP1L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEHBP1L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEHBP1L1
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 EHBP1L1
DgiDB (Drug Gene Interaction Database)EHBP1L1
DoCM (Curated mutations)EHBP1L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EHBP1L1 (select a term)
intoGenEHBP1L1
Cancer3DEHBP1L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenEHBP1L1
Genetic Testing Registry EHBP1L1
NextProtQ8N3D4 [Medical]
TSGene254102
GENETestsEHBP1L1
Huge Navigator EHBP1L1 [HugePedia]
snp3D : Map Gene to Disease254102
BioCentury BCIQEHBP1L1
ClinGenEHBP1L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD254102
Chemical/Pharm GKB GenePA134871712
Clinical trialEHBP1L1
Miscellaneous
canSAR (ICR)EHBP1L1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEHBP1L1
EVEXEHBP1L1
GoPubMedEHBP1L1
iHOPEHBP1L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:02:38 CET 2017

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