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HS1BP3 (HCLS1 binding protein 3)

Identity

Alias_symbol (synonym)HS1-BP3
FLJ14249
Other aliasETM2
HGNC (Hugo) HS1BP3
LocusID (NCBI) 64342
Atlas_Id 64425
Location 2p24.1  [Link to chromosome band 2p24]
Location_base_pair Starts at 20617804 and ends at 20651104 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)
MALAT1 (11q13.1) / HS1BP3 (2p24.1)MTMR1 (Xq28) / HS1BP3 (2p24.1)PUM2 (2p24.1) / HS1BP3 (2p24.1)
TACC2 (10q26.13) / HS1BP3 (2p24.1)PUM2 HS1BP3MTMR1 HS1BP3
TACC2 HS1BP3

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

Splice isoforms : SwissVar
Nomenclature
HGNC (Hugo)HS1BP3   24979
Cards
Entrez_Gene (NCBI)HS1BP3  64342  HCLS1 binding protein 3
AliasesETM2; HS1-BP3
GeneCards (Weizmann)HS1BP3
Ensembl hg19 (Hinxton)ENSG00000118960 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118960 [Gene_View]  chr2:20617804-20651104 [Contig_View]  HS1BP3 [Vega]
ICGC DataPortalENSG00000118960
TCGA cBioPortalHS1BP3
AceView (NCBI)HS1BP3
Genatlas (Paris)HS1BP3
WikiGenes64342
SOURCE (Princeton)HS1BP3
Genetics Home Reference (NIH)HS1BP3
Genomic and cartography
GoldenPath hg38 (UCSC)HS1BP3  -     chr2:20617804-20651104 -  2p24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HS1BP3  -     2p24.1   [Description]    (hg19-Feb_2009)
EnsemblHS1BP3 - 2p24.1 [CytoView hg19]  HS1BP3 - 2p24.1 [CytoView hg38]
Mapping of homologs : NCBIHS1BP3 [Mapview hg19]  HS1BP3 [Mapview hg38]
OMIM609359   
Gene and transcription
Genbank (Entrez)AK024311 AK123411 AK314383 BC027947 BC038847
RefSeq transcript (Entrez)NM_022460
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HS1BP3
Cluster EST : UnigeneHs.531785 [ NCBI ]
CGAP (NCI)Hs.531785
Alternative Splicing GalleryENSG00000118960
Gene ExpressionHS1BP3 [ NCBI-GEO ]   HS1BP3 [ EBI - ARRAY_EXPRESS ]   HS1BP3 [ SEEK ]   HS1BP3 [ MEM ]
Gene Expression Viewer (FireBrowse)HS1BP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64342
GTEX Portal (Tissue expression)HS1BP3
Human Protein AtlasENSG00000118960-HS1BP3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ53T59   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ53T59  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ53T59
Q53T59
PhosPhoSitePlusQ53T59
Domaine pattern : Prosite (Expaxy)PX (PS50195)   
Domains : Interpro (EBI)Phox   
Domain families : Pfam (Sanger)PX (PF00787)   
Domain families : Pfam (NCBI)pfam00787   
Domain families : Smart (EMBL)PX (SM00312)  
Conserved Domain (NCBI)HS1BP3
DMDM Disease mutations64342
Blocks (Seattle)HS1BP3
SuperfamilyQ53T59
Human Protein Atlas [tissue]ENSG00000118960-HS1BP3 [tissue]
Peptide AtlasQ53T59
HPRD13357
IPIIPI00328868   IPI00008253   IPI00893408   IPI00893247   IPI00893652   IPI00894051   IPI00893740   
Protein Interaction databases
DIP (DOE-UCLA)Q53T59
IntAct (EBI)Q53T59
FunCoupENSG00000118960
BioGRIDHS1BP3
STRING (EMBL)HS1BP3
ZODIACHS1BP3
Ontologies - Pathways
QuickGOQ53T59
Ontology : AmiGOmitochondrion  endoplasmic reticulum  phosphatidylinositol binding  regulation of apoptotic process  
Ontology : EGO-EBImitochondrion  endoplasmic reticulum  phosphatidylinositol binding  regulation of apoptotic process  
NDEx NetworkHS1BP3
Atlas of Cancer Signalling NetworkHS1BP3
Wikipedia pathwaysHS1BP3
Orthology - Evolution
OrthoDB64342
GeneTree (enSembl)ENSG00000118960
Phylogenetic Trees/Animal Genes : TreeFamHS1BP3
HOVERGENQ53T59
HOGENOMQ53T59
Homologs : HomoloGeneHS1BP3
Homology/Alignments : Family Browser (UCSC)HS1BP3
Gene fusions - Rearrangements
Fusion: TCGA_MDACCPUM2 HS1BP3
Fusion: TCGA_MDACCMTMR1 HS1BP3
Fusion: TCGA_MDACCTACC2 HS1BP3
Tumor Fusion PortalHS1BP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHS1BP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HS1BP3
dbVarHS1BP3
ClinVarHS1BP3
1000_GenomesHS1BP3 
Exome Variant ServerHS1BP3
ExAC (Exome Aggregation Consortium)ENSG00000118960
GNOMAD BrowserENSG00000118960
Genetic variants : HAPMAP64342
Genomic Variants (DGV)HS1BP3 [DGVbeta]
DECIPHERHS1BP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHS1BP3 
Mutations
ICGC Data PortalHS1BP3 
TCGA Data PortalHS1BP3 
Broad Tumor PortalHS1BP3
OASIS PortalHS1BP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHS1BP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHS1BP3
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 HS1BP3
DgiDB (Drug Gene Interaction Database)HS1BP3
DoCM (Curated mutations)HS1BP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HS1BP3 (select a term)
intoGenHS1BP3
Cancer3DHS1BP3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609359   
Orphanet
DisGeNETHS1BP3
MedgenHS1BP3
Genetic Testing Registry HS1BP3
NextProtQ53T59 [Medical]
TSGene64342
GENETestsHS1BP3
Target ValidationHS1BP3
Huge Navigator HS1BP3 [HugePedia]
snp3D : Map Gene to Disease64342
BioCentury BCIQHS1BP3
ClinGenHS1BP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64342
Chemical/Pharm GKB GenePA162391602
Clinical trialHS1BP3
Miscellaneous
canSAR (ICR)HS1BP3 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHS1BP3
EVEXHS1BP3
GoPubMedHS1BP3
iHOPHS1BP3
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 : Tue Nov 21 13:04:42 CET 2017

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