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HHLA3 (HERV-H LTR-associating 3)

Identity

Other alias-
HGNC (Hugo) HHLA3
LocusID (NCBI) 11147
Atlas_Id 64258
Location 1p31.1  [Link to chromosome band 1p31]
Location_base_pair Starts at 70354810 and ends at 70368022 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)
ANKRD13C (1p31.1) / HHLA3 (1p31.1)

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)HHLA3   4906
Cards
Entrez_Gene (NCBI)HHLA3  11147  HERV-H LTR-associating 3
Aliases
GeneCards (Weizmann)HHLA3
Ensembl hg19 (Hinxton)ENSG00000197568 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197568 [Gene_View]  ENSG00000197568 [Sequence]  chr1:70354810-70368022 [Contig_View]  HHLA3 [Vega]
ICGC DataPortalENSG00000197568
TCGA cBioPortalHHLA3
AceView (NCBI)HHLA3
Genatlas (Paris)HHLA3
WikiGenes11147
SOURCE (Princeton)HHLA3
Genetics Home Reference (NIH)HHLA3
Genomic and cartography
GoldenPath hg38 (UCSC)HHLA3  -     chr1:70354810-70368022 +  1p31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HHLA3  -     1p31.1   [Description]    (hg19-Feb_2009)
GoldenPathHHLA3 - 1p31.1 [CytoView hg19]  HHLA3 - 1p31.1 [CytoView hg38]
ImmunoBaseENSG00000197568
Mapping of homologs : NCBIHHLA3 [Mapview hg19]  HHLA3 [Mapview hg38]
OMIM604372   
Gene and transcription
Genbank (Entrez)AF126163 AF126164 BC010922 BG773961 BI868263
RefSeq transcript (Entrez)NM_001031693 NM_001036645 NM_001036646 NM_007071
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HHLA3
Alternative Splicing GalleryENSG00000197568
Gene ExpressionHHLA3 [ NCBI-GEO ]   HHLA3 [ EBI - ARRAY_EXPRESS ]   HHLA3 [ SEEK ]   HHLA3 [ MEM ]
Gene Expression Viewer (FireBrowse)HHLA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11147
GTEX Portal (Tissue expression)HHLA3
Human Protein AtlasENSG00000197568-HHLA3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9XRX5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9XRX5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9XRX5
Splice isoforms : SwissVarQ9XRX5
PhosPhoSitePlusQ9XRX5
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)HHLA3
DMDM Disease mutations11147
Blocks (Seattle)HHLA3
SuperfamilyQ9XRX5
Human Protein Atlas [tissue]ENSG00000197568-HHLA3 [tissue]
Peptide AtlasQ9XRX5
HPRD05083
IPIIPI00386644   IPI00513880   IPI00479633   IPI00795648   IPI00981094   
Protein Interaction databases
DIP (DOE-UCLA)Q9XRX5
IntAct (EBI)Q9XRX5
FunCoupENSG00000197568
BioGRIDHHLA3
STRING (EMBL)HHLA3
ZODIACHHLA3
Ontologies - Pathways
QuickGOQ9XRX5
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkHHLA3
Atlas of Cancer Signalling NetworkHHLA3
Wikipedia pathwaysHHLA3
Orthology - Evolution
OrthoDB11147
GeneTree (enSembl)ENSG00000197568
Phylogenetic Trees/Animal Genes : TreeFamHHLA3
HOGENOMQ9XRX5
Homologs : HomoloGeneHHLA3
Homology/Alignments : Family Browser (UCSC)HHLA3
Gene fusions - Rearrangements
Fusion : QuiverHHLA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHHLA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HHLA3
dbVarHHLA3
ClinVarHHLA3
1000_GenomesHHLA3 
Exome Variant ServerHHLA3
ExAC (Exome Aggregation Consortium)ENSG00000197568
GNOMAD BrowserENSG00000197568
Varsome BrowserHHLA3
Genetic variants : HAPMAP11147
Genomic Variants (DGV)HHLA3 [DGVbeta]
DECIPHERHHLA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHHLA3 
Mutations
ICGC Data PortalHHLA3 
TCGA Data PortalHHLA3 
Broad Tumor PortalHHLA3
OASIS PortalHHLA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHHLA3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHHLA3
Mutations and Diseases : HGMDHHLA3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HHLA3
DgiDB (Drug Gene Interaction Database)HHLA3
DoCM (Curated mutations)HHLA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HHLA3 (select a term)
intoGenHHLA3
Cancer3DHHLA3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604372   
Orphanet
DisGeNETHHLA3
MedgenHHLA3
Genetic Testing Registry HHLA3
NextProtQ9XRX5 [Medical]
TSGene11147
GENETestsHHLA3
Target ValidationHHLA3
Huge Navigator HHLA3 [HugePedia]
snp3D : Map Gene to Disease11147
BioCentury BCIQHHLA3
ClinGenHHLA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11147
Chemical/Pharm GKB GenePA29279
Clinical trialHHLA3
Miscellaneous
canSAR (ICR)HHLA3 (select the gene name)
HarmonizomeHHLA3
DataMed IndexHHLA3
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHHLA3
EVEXHHLA3
GoPubMedHHLA3
iHOPHHLA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Mar 11 19:56:31 CET 2020
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