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LHFPL5 (LHFPL tetraspan subfamily member 5)

Identity

Alias (NCBI)DFNB67
TMHS
dJ510O8.8
HGNC (Hugo) LHFPL5
HGNC Alias symbMGC33835
dJ510O8.8
Tmhs
HGNC Alias nametetraspan membrane protein of hair cell stereocilia
HGNC Previous nameDFNB67
HGNC Previous namedeafness, autosomal recessive 67
 lipoma HMGIC fusion partner-like 5
LocusID (NCBI) 222662
Atlas_Id 56500
Location 6p21.31  [Link to chromosome band 6p21]
Location_base_pair Starts at 35805352 and ends at 35824069 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)
LHFPL5 (6p21.31) / NUFIP2 (17q11.2)

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)LHFPL5   21253
Cards
Entrez_Gene (NCBI)LHFPL5  222662  LHFPL tetraspan subfamily member 5
AliasesDFNB67; TMHS; dJ510O8.8
GeneCards (Weizmann)LHFPL5
Ensembl hg19 (Hinxton)ENSG00000197753 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197753 [Gene_View]  ENSG00000197753 [Sequence]  chr6:35805352-35824069 [Contig_View]  LHFPL5 [Vega]
ICGC DataPortalENSG00000197753
TCGA cBioPortalLHFPL5
AceView (NCBI)LHFPL5
Genatlas (Paris)LHFPL5
WikiGenes222662
SOURCE (Princeton)LHFPL5
Genetics Home Reference (NIH)LHFPL5
Genomic and cartography
GoldenPath hg38 (UCSC)LHFPL5  -     chr6:35805352-35824069 +  6p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LHFPL5  -     6p21.31   [Description]    (hg19-Feb_2009)
GoldenPathLHFPL5 - 6p21.31 [CytoView hg19]  LHFPL5 - 6p21.31 [CytoView hg38]
ImmunoBaseENSG00000197753
genome Data Viewer NCBILHFPL5 [Mapview hg19]  
OMIM609427   610265   
Gene and transcription
Genbank (Entrez)AK126841 BC028630
RefSeq transcript (Entrez)NM_182548
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LHFPL5
Alternative Splicing GalleryENSG00000197753
Gene ExpressionLHFPL5 [ NCBI-GEO ]   LHFPL5 [ EBI - ARRAY_EXPRESS ]   LHFPL5 [ SEEK ]   LHFPL5 [ MEM ]
Gene Expression Viewer (FireBrowse)LHFPL5 [ Firebrowse - Broad ]
GenevisibleExpression of LHFPL5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)222662
GTEX Portal (Tissue expression)LHFPL5
Human Protein AtlasENSG00000197753-LHFPL5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TAF8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TAF8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TAF8
Splice isoforms : SwissVarQ8TAF8
PhosPhoSitePlusQ8TAF8
Domains : Interpro (EBI)LHFPL   
Domain families : Pfam (Sanger)L_HMGIC_fpl (PF10242)   
Domain families : Pfam (NCBI)pfam10242   
Conserved Domain (NCBI)LHFPL5
DMDM Disease mutations222662
Blocks (Seattle)LHFPL5
SuperfamilyQ8TAF8
Human Protein Atlas [tissue]ENSG00000197753-LHFPL5 [tissue]
Peptide AtlasQ8TAF8
HPRD13989
IPIIPI00290403   
Protein Interaction databases
DIP (DOE-UCLA)Q8TAF8
IntAct (EBI)Q8TAF8
FunCoupENSG00000197753
BioGRIDLHFPL5
STRING (EMBL)LHFPL5
ZODIACLHFPL5
Ontologies - Pathways
QuickGOQ8TAF8
Ontology : AmiGOprotein binding  plasma membrane  ion transport  sensory perception of sound  membrane  integral component of membrane  apical plasma membrane  stereocilium tip  detection of mechanical stimulus involved in sensory perception of sound  detection of mechanical stimulus involved in sensory perception  auditory receptor cell stereocilium organization  
Ontology : EGO-EBIprotein binding  plasma membrane  ion transport  sensory perception of sound  membrane  integral component of membrane  apical plasma membrane  stereocilium tip  detection of mechanical stimulus involved in sensory perception of sound  detection of mechanical stimulus involved in sensory perception  auditory receptor cell stereocilium organization  
NDEx NetworkLHFPL5
Atlas of Cancer Signalling NetworkLHFPL5
Wikipedia pathwaysLHFPL5
Orthology - Evolution
OrthoDB222662
GeneTree (enSembl)ENSG00000197753
Phylogenetic Trees/Animal Genes : TreeFamLHFPL5
HOGENOMQ8TAF8
Homologs : HomoloGeneLHFPL5
Homology/Alignments : Family Browser (UCSC)LHFPL5
Gene fusions - Rearrangements
Fusion : QuiverLHFPL5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLHFPL5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LHFPL5
dbVarLHFPL5
ClinVarLHFPL5
1000_GenomesLHFPL5 
Exome Variant ServerLHFPL5
GNOMAD BrowserENSG00000197753
Varsome BrowserLHFPL5
Genetic variants : HAPMAP222662
Genomic Variants (DGV)LHFPL5 [DGVbeta]
DECIPHERLHFPL5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLHFPL5 
Mutations
ICGC Data PortalLHFPL5 
TCGA Data PortalLHFPL5 
Broad Tumor PortalLHFPL5
OASIS PortalLHFPL5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLHFPL5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DLHFPL5
Mutations and Diseases : HGMDLHFPL5
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch LHFPL5
DgiDB (Drug Gene Interaction Database)LHFPL5
DoCM (Curated mutations)LHFPL5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LHFPL5 (select a term)
intoGenLHFPL5
Cancer3DLHFPL5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609427    610265   
Orphanet12047   
DisGeNETLHFPL5
MedgenLHFPL5
Genetic Testing Registry LHFPL5
NextProtQ8TAF8 [Medical]
TSGene222662
GENETestsLHFPL5
Target ValidationLHFPL5
Huge Navigator LHFPL5 [HugePedia]
snp3D : Map Gene to Disease222662
BioCentury BCIQLHFPL5
ClinGenLHFPL5
Clinical trials, drugs, therapy
Protein Interactions : CTD222662
Pharm GKB GenePA134943389
Clinical trialLHFPL5
Miscellaneous
canSAR (ICR)LHFPL5 (select the gene name)
HarmonizomeLHFPL5
DataMed IndexLHFPL5
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLHFPL5
EVEXLHFPL5
GoPubMedLHFPL5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:20:11 CEST 2020

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