Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HAX1 (HCLS1 associated protein X-1)

Identity

Other namesHCLSBP1
HS1BP1
SCN3
HGNC (Hugo) HAX1
LocusID (NCBI) 10456
Atlas_Id 50953
Location 1q21.3
Location_base_pair Starts at 154245039 and ends at 154248355 bp from pter ( according to hg19-Feb_2009)

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

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
  Congenital neutropenia Familial Myeloproliferative Disorders

External links

Nomenclature
HGNC (Hugo)HAX1   16915
Cards
Entrez_Gene (NCBI)HAX1  10456  HCLS1 associated protein X-1
GeneCards (Weizmann)HAX1
Ensembl hg19 (Hinxton)ENSG00000143575 [Gene_View]  chr1:154245039-154248355 [Contig_View]  HAX1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000143575 [Gene_View]  chr1:154245039-154248355 [Contig_View]  HAX1 [Vega]
ICGC DataPortalENSG00000143575
TCGA cBioPortalHAX1
AceView (NCBI)HAX1
Genatlas (Paris)HAX1
WikiGenes10456
SOURCE (Princeton)HAX1
Genomic and cartography
GoldenPath hg19 (UCSC)HAX1  -     chr1:154245039-154248355 +  1q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HAX1  -     1q21.3   [Description]    (hg38-Dec_2013)
EnsemblHAX1 - 1q21.3 [CytoView hg19]  HAX1 - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBIHAX1 [Mapview hg19]  HAX1 [Mapview hg38]
OMIM605998   610738   
Gene and transcription
Genbank (Entrez)AK290626 AK294298 AK300676 AK310000 AK311450
RefSeq transcript (Entrez)NM_001018837 NM_006118
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_007369 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)HAX1
Cluster EST : UnigeneHs.199625 [ NCBI ]
CGAP (NCI)Hs.199625
Alternative Splicing : Fast-db (Paris)GSHG0001004
Alternative Splicing GalleryENSG00000143575
Gene ExpressionHAX1 [ NCBI-GEO ]   HAX1 [ EBI - ARRAY_EXPRESS ]   HAX1 [ SEEK ]   HAX1 [ MEM ]
Gene Expression Viewer (FireBrowse)HAX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)10456
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00165 (Uniprot)
NextProtO00165  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00165
Splice isoforms : SwissVarO00165 (Swissvar)
PhosPhoSitePlusO00165
Domains : Interpro (EBI)HAX-1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations10456
Blocks (Seattle)HAX1
SuperfamilyO00165
Human Protein AtlasENSG00000143575
Peptide AtlasO00165
HPRD12075
IPIIPI00010440   IPI00641973   IPI00954512   IPI00878396   IPI00604587   IPI00954523   IPI00479876   IPI00981100   
Protein Interaction databases
DIP (DOE-UCLA)O00165
IntAct (EBI)O00165
FunCoupENSG00000143575
BioGRIDHAX1
STRING (EMBL)HAX1
ZODIACHAX1
Ontologies - Pathways
QuickGOO00165
Ontology : AmiGOprotein binding  nuclear envelope  transcription factor complex  mitochondrion  mitochondrial outer membrane  mitochondrial intermembrane space  endoplasmic reticulum  mitochondrion organization  positive regulation of phosphatidylinositol 3-kinase signaling  actin cytoskeleton  cytoplasmic, membrane-bounded vesicle  sarcoplasmic reticulum  interleukin-1 binding  lamellipodium  regulation of actin filament polymerization  positive regulation of granulocyte differentiation  nuclear membrane  positive regulation of peptidyl-serine phosphorylation  regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of protein kinase B signaling  cellular response to cytokine stimulus  regulation of mitophagy  regulation of protein targeting to mitochondrion  positive regulation of actin cytoskeleton reorganization  
Ontology : EGO-EBIprotein binding  nuclear envelope  transcription factor complex  mitochondrion  mitochondrial outer membrane  mitochondrial intermembrane space  endoplasmic reticulum  mitochondrion organization  positive regulation of phosphatidylinositol 3-kinase signaling  actin cytoskeleton  cytoplasmic, membrane-bounded vesicle  sarcoplasmic reticulum  interleukin-1 binding  lamellipodium  regulation of actin filament polymerization  positive regulation of granulocyte differentiation  nuclear membrane  positive regulation of peptidyl-serine phosphorylation  regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of protein kinase B signaling  cellular response to cytokine stimulus  regulation of mitophagy  regulation of protein targeting to mitochondrion  positive regulation of actin cytoskeleton reorganization  
NDEx Network
Atlas of Cancer Signalling NetworkHAX1
Wikipedia pathwaysHAX1
Orthology - Evolution
OrthoDB10456
GeneTree (enSembl)ENSG00000143575
Phylogenetic Trees/Animal Genes : TreeFamHAX1
Homologs : HomoloGeneHAX1
Homology/Alignments : Family Browser (UCSC)HAX1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerHAX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HAX1
dbVarHAX1
ClinVarHAX1
1000_GenomesHAX1 
Exome Variant ServerHAX1
ExAC (Exome Aggregation Consortium)HAX1 (select the gene name)
SNP (GeneSNP Utah)HAX1
SNP : HGBaseHAX1
Genetic variants : HAPMAPHAX1
Genomic Variants (DGV)HAX1 [DGVbeta]
Mutations
ICGC Data PortalHAX1 
TCGA Data PortalHAX1 
Broad Tumor PortalHAX1
OASIS PortalHAX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHAX1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HAX1
DgiDB (Drug Gene Interaction Database)HAX1
DoCM (Curated mutations)HAX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HAX1 (select a term)
intoGenHAX1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:154245039-154248355
CONAN: Copy Number AnalysisHAX1 
Mutations and Diseases : HGMDHAX1
OMIM605998    610738   
MedgenHAX1
Genetic Testing Registry HAX1
NextProtO00165 [Medical]
TSGene10456
GENETestsHAX1
Huge Navigator HAX1 [HugePedia]  HAX1 [HugeCancerGEM]
snp3D : Map Gene to Disease10456
BioCentury BCIQHAX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10456
Chemical/Pharm GKB GenePA142671700
Clinical trialHAX1
Miscellaneous
canSAR (ICR)HAX1 (select the gene name)
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHAX1
GoPubMedHAX1
iHOPHAX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 16 17:47:07 CEST 2016

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