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HHLA1 (HERV-H LTR-associating 1)

Identity

Other namesPLA2L
HGNC (Hugo) HHLA1
LocusID (NCBI) 10086
Atlas_Id 40818
Location 8q24.22
Location_base_pair Starts at 133073733 and ends at 133117512 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
HAS2 8q24.13 / HHLA1 8q24.22TMEM64 8q21.3 / HHLA1 8q24.22

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)HHLA1   4904
Cards
Entrez_Gene (NCBI)HHLA1  10086  HERV-H LTR-associating 1
GeneCards (Weizmann)HHLA1
Ensembl hg19 (Hinxton)ENSG00000132297 [Gene_View]  chr8:133073733-133117512 [Contig_View]  HHLA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000132297 [Gene_View]  chr8:133073733-133117512 [Contig_View]  HHLA1 [Vega]
ICGC DataPortalENSG00000132297
TCGA cBioPortalHHLA1
AceView (NCBI)HHLA1
Genatlas (Paris)HHLA1
WikiGenes10086
SOURCE (Princeton)HHLA1
Genomic and cartography
GoldenPath hg19 (UCSC)HHLA1  -     chr8:133073733-133117512 -  8q24.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HHLA1  -     8q24.22   [Description]    (hg38-Dec_2013)
EnsemblHHLA1 - 8q24.22 [CytoView hg19]  HHLA1 - 8q24.22 [CytoView hg38]
Mapping of homologs : NCBIHHLA1 [Mapview hg19]  HHLA1 [Mapview hg38]
OMIM604109   
Gene and transcription
Genbank (Entrez)AK022619
RefSeq transcript (Entrez)NM_001145095 NM_005712
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)HHLA1
Cluster EST : UnigeneHs.285026 [ NCBI ]
CGAP (NCI)Hs.285026
Alternative Splicing : Fast-db (Paris)GSHG0029868
Alternative Splicing GalleryENSG00000132297
Gene ExpressionHHLA1 [ NCBI-GEO ]     HHLA1 [ SEEK ]   HHLA1 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)10086
Protein : pattern, domain, 3D structure
UniProt/SwissProtC9JL84 (Uniprot)
NextProtC9JL84  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProC9JL84
Splice isoforms : SwissVarC9JL84 (Swissvar)
PhosPhoSitePlusC9JL84
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations10086
Blocks (Seattle)HHLA1
Human Protein AtlasENSG00000132297
Peptide AtlasC9JL84
HPRD06823
IPIIPI00793585   IPI00024700   
Protein Interaction databases
DIP (DOE-UCLA)C9JL84
IntAct (EBI)C9JL84
FunCoupENSG00000132297
BioGRIDHHLA1
IntegromeDBHHLA1
STRING (EMBL)HHLA1
ZODIACHHLA1
Ontologies - Pathways
QuickGOC9JL84
Ontology : AmiGOextracellular region  
Ontology : EGO-EBIextracellular region  
Protein Interaction DatabaseHHLA1
Atlas of Cancer Signalling NetworkHHLA1
Wikipedia pathwaysHHLA1
Orthology - Evolution
OrthoDB10086
GeneTree (enSembl)ENSG00000132297
Phylogenetic Trees/Animal Genes : TreeFamHHLA1
Homologs : HomoloGeneHHLA1
Homology/Alignments : Family Browser (UCSC)HHLA1
Gene fusions - Rearrangements
Fusion: TCGAHAS2 8q24.13 HHLA1 8q24.22 LUAD
Fusion: TCGATMEM64 8q21.3 HHLA1 8q24.22 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerHHLA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HHLA1
dbVarHHLA1
ClinVarHHLA1
1000_GenomesHHLA1 
Exome Variant ServerHHLA1
Exome Aggregation Consortium (ExAC)ENSG00000132297
SNP (GeneSNP Utah)HHLA1
SNP : HGBaseHHLA1
Genetic variants : HAPMAPHHLA1
Genomic Variants (DGV)HHLA1 [DGVbeta]
Mutations
ICGC Data PortalHHLA1 
TCGA Data PortalHHLA1 
Tumor PortalHHLA1
TCGA Copy Number PortalHHLA1
Somatic Mutations in Cancer : COSMICHHLA1 
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 HHLA1
DgiDB (Drug Gene Interaction Database)HHLA1
DoCM (Curated mutations)HHLA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HHLA1 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:133073733-133117512
CONAN: Copy Number AnalysisHHLA1 
Mutations and Diseases : HGMDHHLA1
OMIM604109   
MedgenHHLA1
NextProtC9JL84 [Medical]
TSGene10086
GENETestsHHLA1
Huge Navigator HHLA1 [HugePedia]  HHLA1 [HugeCancerGEM]
snp3D : Map Gene to Disease10086
BioCentury BCIQHHLA1
General knowledge
Chemical/Protein Interactions : CTD10086
Chemical/Pharm GKB GenePA29277
Clinical trialHHLA1
Other databases
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHHLA1
GoPubMedHHLA1
iHOPHHLA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jan 16 18:45:50 CET 2016

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