Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HEG1 (heart development protein with EGF like domains 1)

Identity

Alias_namesHEG homolog 1 (zebrafish)
heart development protein with EGF-like domains 1
Alias_symbol (synonym)KIAA1237
HEG
Other aliasMST112
MSTP112
HGNC (Hugo) HEG1
LocusID (NCBI) 57493
Atlas_Id 64231
Location 3q21.2  [Link to chromosome band 3q21]
Location_base_pair Starts at 124965710 and ends at 125055958 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)
HEG1 (3q21.2) / AKAP8L (19p13.12)HEG1 (3q21.2) / CLSTN2 (3q23)HEG1 (3q21.2) / GNAS (20q13.32)
MUC13 (3q21.2) / HEG1 (3q21.2)

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)HEG1   29227
Cards
Entrez_Gene (NCBI)HEG1  57493  heart development protein with EGF like domains 1
AliasesHEG; MST112; MSTP112
GeneCards (Weizmann)HEG1
Ensembl hg19 (Hinxton)ENSG00000173706 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173706 [Gene_View]  chr3:124965710-125055958 [Contig_View]  HEG1 [Vega]
ICGC DataPortalENSG00000173706
TCGA cBioPortalHEG1
AceView (NCBI)HEG1
Genatlas (Paris)HEG1
WikiGenes57493
SOURCE (Princeton)HEG1
Genetics Home Reference (NIH)HEG1
Genomic and cartography
GoldenPath hg38 (UCSC)HEG1  -     chr3:124965710-125055958 -  3q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HEG1  -     3q21.2   [Description]    (hg19-Feb_2009)
EnsemblHEG1 - 3q21.2 [CytoView hg19]  HEG1 - 3q21.2 [CytoView hg38]
Mapping of homologs : NCBIHEG1 [Mapview hg19]  HEG1 [Mapview hg38]
OMIM614182   
Gene and transcription
Genbank (Entrez)AB033063 AF173887 AK074987 BC004539 BC014053
RefSeq transcript (Entrez)NM_020733
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HEG1
Cluster EST : UnigeneHs.477420 [ NCBI ]
CGAP (NCI)Hs.477420
Alternative Splicing GalleryENSG00000173706
Gene ExpressionHEG1 [ NCBI-GEO ]   HEG1 [ EBI - ARRAY_EXPRESS ]   HEG1 [ SEEK ]   HEG1 [ MEM ]
Gene Expression Viewer (FireBrowse)HEG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57493
GTEX Portal (Tissue expression)HEG1
Human Protein AtlasENSG00000173706-HEG1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULI3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULI3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULI3
Splice isoforms : SwissVarQ9ULI3
PhosPhoSitePlusQ9ULI3
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)   
Domains : Interpro (EBI)EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    HEG   
Domain families : Pfam (Sanger)EGF (PF00008)    EGF_CA (PF07645)   
Domain families : Pfam (NCBI)pfam00008    pfam07645   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)HEG1
DMDM Disease mutations57493
Blocks (Seattle)HEG1
PDB (SRS)3U7D    4HDQ   
PDB (PDBSum)3U7D    4HDQ   
PDB (IMB)3U7D    4HDQ   
PDB (RSDB)3U7D    4HDQ   
Structural Biology KnowledgeBase3U7D    4HDQ   
SCOP (Structural Classification of Proteins)3U7D    4HDQ   
CATH (Classification of proteins structures)3U7D    4HDQ   
SuperfamilyQ9ULI3
Human Protein Atlas [tissue]ENSG00000173706-HEG1 [tissue]
Peptide AtlasQ9ULI3
IPIIPI00297263   IPI00795307   IPI00384916   IPI00787837   IPI00946645   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULI3
IntAct (EBI)Q9ULI3
FunCoupENSG00000173706
BioGRIDHEG1
STRING (EMBL)HEG1
ZODIACHEG1
Ontologies - Pathways
QuickGOQ9ULI3
Ontology : AmiGOvasculogenesis  in utero embryonic development  endothelial cell morphogenesis  lymph vessel development  lymph circulation  cardiac atrium morphogenesis  ventricular trabecula myocardium morphogenesis  ventricular septum development  calcium ion binding  protein binding  extracellular region  cell-cell junction  cell-cell junction assembly  post-embryonic development  external side of plasma membrane  integral component of membrane  lung development  multicellular organism growth  venous blood vessel morphogenesis  regulation of body fluid levels  cardiac muscle tissue growth  pericardium development  positive regulation of fibroblast growth factor production  
Ontology : EGO-EBIvasculogenesis  in utero embryonic development  endothelial cell morphogenesis  lymph vessel development  lymph circulation  cardiac atrium morphogenesis  ventricular trabecula myocardium morphogenesis  ventricular septum development  calcium ion binding  protein binding  extracellular region  cell-cell junction  cell-cell junction assembly  post-embryonic development  external side of plasma membrane  integral component of membrane  lung development  multicellular organism growth  venous blood vessel morphogenesis  regulation of body fluid levels  cardiac muscle tissue growth  pericardium development  positive regulation of fibroblast growth factor production  
NDEx NetworkHEG1
Atlas of Cancer Signalling NetworkHEG1
Wikipedia pathwaysHEG1
Orthology - Evolution
OrthoDB57493
GeneTree (enSembl)ENSG00000173706
Phylogenetic Trees/Animal Genes : TreeFamHEG1
HOVERGENQ9ULI3
HOGENOMQ9ULI3
Homologs : HomoloGeneHEG1
Homology/Alignments : Family Browser (UCSC)HEG1
Gene fusions - Rearrangements
Fusion: Tumor Portal HEG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEG1
dbVarHEG1
ClinVarHEG1
1000_GenomesHEG1 
Exome Variant ServerHEG1
ExAC (Exome Aggregation Consortium)ENSG00000173706
GNOMAD BrowserENSG00000173706
Genetic variants : HAPMAP57493
Genomic Variants (DGV)HEG1 [DGVbeta]
DECIPHERHEG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHEG1 
Mutations
ICGC Data PortalHEG1 
TCGA Data PortalHEG1 
Broad Tumor PortalHEG1
OASIS PortalHEG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEG1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHEG1
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 HEG1
DgiDB (Drug Gene Interaction Database)HEG1
DoCM (Curated mutations)HEG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEG1 (select a term)
intoGenHEG1
Cancer3DHEG1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614182   
Orphanet
MedgenHEG1
Genetic Testing Registry HEG1
NextProtQ9ULI3 [Medical]
TSGene57493
GENETestsHEG1
Target ValidationHEG1
Huge Navigator HEG1 [HugePedia]
snp3D : Map Gene to Disease57493
BioCentury BCIQHEG1
ClinGenHEG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57493
Chemical/Pharm GKB GenePA142671699
Clinical trialHEG1
Miscellaneous
canSAR (ICR)HEG1 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEG1
EVEXHEG1
GoPubMedHEG1
iHOPHEG1
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 Nov 9 11:50:24 CET 2017

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