Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HAND1 (heart and neural crest derivatives expressed 1)

Identity

Alias_symbol (synonym)eHand
Thing1
Hxt
bHLHa27
Other alias
HGNC (Hugo) HAND1
LocusID (NCBI) 9421
Atlas_Id 54976
Location 5q33.2  [Link to chromosome band 5q33]
Location_base_pair Starts at 153854532 and ends at 153857824 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

 


External links

Nomenclature
HGNC (Hugo)HAND1   4807
Cards
Entrez_Gene (NCBI)HAND1  9421  heart and neural crest derivatives expressed 1
AliasesHxt; Thing1; bHLHa27; eHand
GeneCards (Weizmann)HAND1
Ensembl hg19 (Hinxton)ENSG00000113196 [Gene_View]  chr5:153854532-153857824 [Contig_View]  HAND1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000113196 [Gene_View]  chr5:153854532-153857824 [Contig_View]  HAND1 [Vega]
ICGC DataPortalENSG00000113196
TCGA cBioPortalHAND1
AceView (NCBI)HAND1
Genatlas (Paris)HAND1
WikiGenes9421
SOURCE (Princeton)HAND1
Genetics Home Reference (NIH)HAND1
Genomic and cartography
GoldenPath hg19 (UCSC)HAND1  -     chr5:153854532-153857824 -  5q33.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HAND1  -     5q33.2   [Description]    (hg38-Dec_2013)
EnsemblHAND1 - 5q33.2 [CytoView hg19]  HAND1 - 5q33.2 [CytoView hg38]
Mapping of homologs : NCBIHAND1 [Mapview hg19]  HAND1 [Mapview hg38]
OMIM602406   
Gene and transcription
Genbank (Entrez)AF061756 BC021190 EU446688
RefSeq transcript (Entrez)NM_004821
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_029289 NW_004929324
Consensus coding sequences : CCDS (NCBI)HAND1
Cluster EST : UnigeneHs.152531 [ NCBI ]
CGAP (NCI)Hs.152531
Alternative Splicing GalleryENSG00000113196
Gene ExpressionHAND1 [ NCBI-GEO ]   HAND1 [ EBI - ARRAY_EXPRESS ]   HAND1 [ SEEK ]   HAND1 [ MEM ]
Gene Expression Viewer (FireBrowse)HAND1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9421
GTEX Portal (Tissue expression)HAND1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO96004   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO96004  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO96004
Splice isoforms : SwissVarO96004
PhosPhoSitePlusO96004
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)HAND1
DMDM Disease mutations9421
Blocks (Seattle)HAND1
SuperfamilyO96004
Human Protein AtlasENSG00000113196
Peptide AtlasO96004
HPRD03871
IPIIPI00014052   
Protein Interaction databases
DIP (DOE-UCLA)O96004
IntAct (EBI)O96004
FunCoupENSG00000113196
BioGRIDHAND1
STRING (EMBL)HAND1
ZODIACHAND1
Ontologies - Pathways
QuickGOO96004
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  angiogenesis  mesoderm formation  blastocyst development  trophectodermal cell differentiation  heart looping  embryonic heart tube formation  cardiac left ventricle formation  cardiac right ventricle formation  transcription coactivator activity  transcription coactivator activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  transcription from RNA polymerase II promoter  heart development  transcription factor binding  enzyme binding  embryonic heart tube development  odontogenesis of dentin-containing tooth  identical protein binding  protein homodimerization activity  bHLH transcription factor binding  negative regulation of sequence-specific DNA binding transcription factor activity  transcription regulatory region DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  ventricular cardiac muscle tissue morphogenesis  cardiac septum morphogenesis  mesenchyme development  cartilage morphogenesis  trophoblast giant cell differentiation  RNA polymerase II transcription factor complex  negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  angiogenesis  mesoderm formation  blastocyst development  trophectodermal cell differentiation  heart looping  embryonic heart tube formation  cardiac left ventricle formation  cardiac right ventricle formation  transcription coactivator activity  transcription coactivator activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  transcription from RNA polymerase II promoter  heart development  transcription factor binding  enzyme binding  embryonic heart tube development  odontogenesis of dentin-containing tooth  identical protein binding  protein homodimerization activity  bHLH transcription factor binding  negative regulation of sequence-specific DNA binding transcription factor activity  transcription regulatory region DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  ventricular cardiac muscle tissue morphogenesis  cardiac septum morphogenesis  mesenchyme development  cartilage morphogenesis  trophoblast giant cell differentiation  RNA polymerase II transcription factor complex  negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding  
Pathways : BIOCARTANFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes]   
NDEx NetworkHAND1
Atlas of Cancer Signalling NetworkHAND1
Wikipedia pathwaysHAND1
Orthology - Evolution
OrthoDB9421
GeneTree (enSembl)ENSG00000113196
Phylogenetic Trees/Animal Genes : TreeFamHAND1
HOVERGENO96004
HOGENOMO96004
Homologs : HomoloGeneHAND1
Homology/Alignments : Family Browser (UCSC)HAND1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHAND1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HAND1
dbVarHAND1
ClinVarHAND1
1000_GenomesHAND1 
Exome Variant ServerHAND1
ExAC (Exome Aggregation Consortium)HAND1 (select the gene name)
Genetic variants : HAPMAP9421
Genomic Variants (DGV)HAND1 [DGVbeta]
DECIPHER (Syndromes)5:153854532-153857824  ENSG00000113196
CONAN: Copy Number AnalysisHAND1 
Mutations
ICGC Data PortalHAND1 
TCGA Data PortalHAND1 
Broad Tumor PortalHAND1
OASIS PortalHAND1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHAND1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHAND1
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 HAND1
DgiDB (Drug Gene Interaction Database)HAND1
DoCM (Curated mutations)HAND1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HAND1 (select a term)
intoGenHAND1
Cancer3DHAND1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602406   
Orphanet
MedgenHAND1
Genetic Testing Registry HAND1
NextProtO96004 [Medical]
TSGene9421
GENETestsHAND1
Huge Navigator HAND1 [HugePedia]
snp3D : Map Gene to Disease9421
BioCentury BCIQHAND1
ClinGenHAND1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9421
Chemical/Pharm GKB GenePA29183
Clinical trialHAND1
Miscellaneous
canSAR (ICR)HAND1 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHAND1
EVEXHAND1
GoPubMedHAND1
iHOPHAND1
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 : Thu Mar 30 15:03:22 CEST 2017

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