Atlas of Genetics and Cytogenetics in Oncology and Haematology


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LOXHD1 (lipoxygenase homology domains 1)

Identity

Alias_namesDFNB77
deafness, autosomal recessive 77
Alias_symbol (synonym)FLJ32670
LH2D1
Other alias
HGNC (Hugo) LOXHD1
LocusID (NCBI) 125336
Atlas_Id 68555
Location 18q21.1  [Link to chromosome band 18q21]
Location_base_pair Starts at 44056935 and ends at 44139270 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C11orf71 (11q23.2) / LOXHD1 (18q21.1)LOXHD1 (18q21.1) / OLFM4 (13q14.3)LOXHD1 (18q21.1) / S100A6 (1q21.3)

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)LOXHD1   26521
Cards
Entrez_Gene (NCBI)LOXHD1  125336  lipoxygenase homology domains 1
AliasesDFNB77; LH2D1
GeneCards (Weizmann)LOXHD1
Ensembl hg19 (Hinxton)ENSG00000167210 [Gene_View]  chr18:44056935-44139270 [Contig_View]  LOXHD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167210 [Gene_View]  chr18:44056935-44139270 [Contig_View]  LOXHD1 [Vega]
ICGC DataPortalENSG00000167210
TCGA cBioPortalLOXHD1
AceView (NCBI)LOXHD1
Genatlas (Paris)LOXHD1
WikiGenes125336
SOURCE (Princeton)LOXHD1
Genetics Home Reference (NIH)LOXHD1
Genomic and cartography
GoldenPath hg19 (UCSC)LOXHD1  -     chr18:44056935-44139270 -  18q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LOXHD1  -     18q21.1   [Description]    (hg38-Dec_2013)
EnsemblLOXHD1 - 18q21.1 [CytoView hg19]  LOXHD1 - 18q21.1 [CytoView hg38]
Mapping of homologs : NCBILOXHD1 [Mapview hg19]  LOXHD1 [Mapview hg38]
OMIM613072   613079   
Gene and transcription
Genbank (Entrez)AK057232 AK127869 AK302484 AK302848 BC041860
RefSeq transcript (Entrez)NM_001145472 NM_001145473 NM_001173129 NM_001308013 NM_144612
RefSeq genomic (Entrez)NC_000018 NC_018929 NG_016646 NT_010966 NW_004929410
Consensus coding sequences : CCDS (NCBI)LOXHD1
Cluster EST : UnigeneHs.345877 [ NCBI ]
CGAP (NCI)Hs.345877
Alternative Splicing GalleryENSG00000167210
Gene ExpressionLOXHD1 [ NCBI-GEO ]   LOXHD1 [ EBI - ARRAY_EXPRESS ]   LOXHD1 [ SEEK ]   LOXHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)LOXHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)125336
GTEX Portal (Tissue expression)LOXHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IVV2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IVV2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IVV2
Splice isoforms : SwissVarQ8IVV2
PhosPhoSitePlusQ8IVV2
Domaine pattern : Prosite (Expaxy)PLAT (PS50095)   
Domains : Interpro (EBI)Lipase_LipOase    PLAT/LH2_dom   
Domain families : Pfam (Sanger)PLAT (PF01477)   
Domain families : Pfam (NCBI)pfam01477   
Domain families : Smart (EMBL)LH2 (SM00308)  
Conserved Domain (NCBI)LOXHD1
DMDM Disease mutations125336
Blocks (Seattle)LOXHD1
SuperfamilyQ8IVV2
Human Protein AtlasENSG00000167210
Peptide AtlasQ8IVV2
HPRD08316
IPIIPI01009573   IPI00790612   IPI00412603   IPI00477676   IPI00878273   IPI01009679   IPI00788666   IPI00878868   IPI00923542   IPI00877746   IPI00877660   
Protein Interaction databases
DIP (DOE-UCLA)Q8IVV2
IntAct (EBI)Q8IVV2
FunCoupENSG00000167210
BioGRIDLOXHD1
STRING (EMBL)LOXHD1
ZODIACLOXHD1
Ontologies - Pathways
QuickGOQ8IVV2
Ontology : AmiGOcalcium channel activity  sensory perception of sound  membrane  stereocilium  detection of mechanical stimulus  calcium ion transmembrane transport  
Ontology : EGO-EBIcalcium channel activity  sensory perception of sound  membrane  stereocilium  detection of mechanical stimulus  calcium ion transmembrane transport  
NDEx NetworkLOXHD1
Atlas of Cancer Signalling NetworkLOXHD1
Wikipedia pathwaysLOXHD1
Orthology - Evolution
OrthoDB125336
GeneTree (enSembl)ENSG00000167210
Phylogenetic Trees/Animal Genes : TreeFamLOXHD1
HOVERGENQ8IVV2
HOGENOMQ8IVV2
Homologs : HomoloGeneLOXHD1
Homology/Alignments : Family Browser (UCSC)LOXHD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLOXHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LOXHD1
dbVarLOXHD1
ClinVarLOXHD1
1000_GenomesLOXHD1 
Exome Variant ServerLOXHD1
ExAC (Exome Aggregation Consortium)LOXHD1 (select the gene name)
Genetic variants : HAPMAP125336
Genomic Variants (DGV)LOXHD1 [DGVbeta]
DECIPHER (Syndromes)18:44056935-44139270  ENSG00000167210
CONAN: Copy Number AnalysisLOXHD1 
Mutations
ICGC Data PortalLOXHD1 
TCGA Data PortalLOXHD1 
Broad Tumor PortalLOXHD1
OASIS PortalLOXHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLOXHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLOXHD1
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 LOXHD1
DgiDB (Drug Gene Interaction Database)LOXHD1
DoCM (Curated mutations)LOXHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LOXHD1 (select a term)
intoGenLOXHD1
Cancer3DLOXHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613072    613079   
Orphanet12047   
MedgenLOXHD1
Genetic Testing Registry LOXHD1
NextProtQ8IVV2 [Medical]
TSGene125336
GENETestsLOXHD1
Huge Navigator LOXHD1 [HugePedia]
snp3D : Map Gene to Disease125336
BioCentury BCIQLOXHD1
ClinGenLOXHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD125336
Chemical/Pharm GKB GenePA134878065
Clinical trialLOXHD1
Miscellaneous
canSAR (ICR)LOXHD1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLOXHD1
EVEXLOXHD1
GoPubMedLOXHD1
iHOPLOXHD1
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 12:26:52 CET 2017

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