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MYBPHL (myosin binding protein H like)

Identity

Other alias-
HGNC (Hugo) MYBPHL
LocusID (NCBI) 343263
Atlas_Id 70600
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 109292365 and ends at 109307041 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PSRC1 (1p13.3) / MYBPHL (1p13.3)

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)MYBPHL   30434
Cards
Entrez_Gene (NCBI)MYBPHL  343263  myosin binding protein H like
Aliases
GeneCards (Weizmann)MYBPHL
Ensembl hg19 (Hinxton)ENSG00000221986 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000221986 [Gene_View]  chr1:109292365-109307041 [Contig_View]  MYBPHL [Vega]
ICGC DataPortalENSG00000221986
TCGA cBioPortalMYBPHL
AceView (NCBI)MYBPHL
Genatlas (Paris)MYBPHL
WikiGenes343263
SOURCE (Princeton)MYBPHL
Genetics Home Reference (NIH)MYBPHL
Genomic and cartography
GoldenPath hg38 (UCSC)MYBPHL  -     chr1:109292365-109307041 -  1p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYBPHL  -     1p13.3   [Description]    (hg19-Feb_2009)
EnsemblMYBPHL - 1p13.3 [CytoView hg19]  MYBPHL - 1p13.3 [CytoView hg38]
Mapping of homologs : NCBIMYBPHL [Mapview hg19]  MYBPHL [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK129834 BC108664 BC132900 BC132902 BC144471
RefSeq transcript (Entrez)NM_001010985 NM_001265613
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYBPHL
Cluster EST : UnigeneHs.443402 [ NCBI ]
CGAP (NCI)Hs.443402
Alternative Splicing GalleryENSG00000221986
Gene ExpressionMYBPHL [ NCBI-GEO ]   MYBPHL [ EBI - ARRAY_EXPRESS ]   MYBPHL [ SEEK ]   MYBPHL [ MEM ]
Gene Expression Viewer (FireBrowse)MYBPHL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)343263
GTEX Portal (Tissue expression)MYBPHL
Protein : pattern, domain, 3D structure
UniProt/SwissProtA2RUH7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA2RUH7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA2RUH7
Splice isoforms : SwissVarA2RUH7
PhosPhoSitePlusA2RUH7
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)   
Domain families : Pfam (NCBI)pfam00041    pfam07679   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)MYBPHL
DMDM Disease mutations343263
Blocks (Seattle)MYBPHL
SuperfamilyA2RUH7
Human Protein AtlasENSG00000221986
Peptide AtlasA2RUH7
HPRD17616
IPIIPI00258522   IPI00922154   
Protein Interaction databases
DIP (DOE-UCLA)A2RUH7
IntAct (EBI)A2RUH7
FunCoupENSG00000221986
BioGRIDMYBPHL
STRING (EMBL)MYBPHL
ZODIACMYBPHL
Ontologies - Pathways
QuickGOA2RUH7
Ontology : AmiGOmolecular_function  protein binding  cellular_component  muscle myosin complex  striated muscle contraction  actin filament organization  biological_process  structural constituent of muscle  Z disc  M band  sarcomere organization  actin filament binding  muscle alpha-actinin binding  striated muscle myosin thick filament assembly  structural molecule activity conferring elasticity  
Ontology : EGO-EBImolecular_function  protein binding  cellular_component  muscle myosin complex  striated muscle contraction  actin filament organization  biological_process  structural constituent of muscle  Z disc  M band  sarcomere organization  actin filament binding  muscle alpha-actinin binding  striated muscle myosin thick filament assembly  structural molecule activity conferring elasticity  
NDEx NetworkMYBPHL
Atlas of Cancer Signalling NetworkMYBPHL
Wikipedia pathwaysMYBPHL
Orthology - Evolution
OrthoDB343263
GeneTree (enSembl)ENSG00000221986
Phylogenetic Trees/Animal Genes : TreeFamMYBPHL
HOVERGENA2RUH7
HOGENOMA2RUH7
Homologs : HomoloGeneMYBPHL
Homology/Alignments : Family Browser (UCSC)MYBPHL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYBPHL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYBPHL
dbVarMYBPHL
ClinVarMYBPHL
1000_GenomesMYBPHL 
Exome Variant ServerMYBPHL
ExAC (Exome Aggregation Consortium)MYBPHL (select the gene name)
Genetic variants : HAPMAP343263
Genomic Variants (DGV)MYBPHL [DGVbeta]
DECIPHERMYBPHL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYBPHL 
Mutations
ICGC Data PortalMYBPHL 
TCGA Data PortalMYBPHL 
Broad Tumor PortalMYBPHL
OASIS PortalMYBPHL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYBPHL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYBPHL
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch MYBPHL
DgiDB (Drug Gene Interaction Database)MYBPHL
DoCM (Curated mutations)MYBPHL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYBPHL (select a term)
intoGenMYBPHL
Cancer3DMYBPHL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenMYBPHL
Genetic Testing Registry MYBPHL
NextProtA2RUH7 [Medical]
TSGene343263
GENETestsMYBPHL
Target ValidationMYBPHL
Huge Navigator MYBPHL [HugePedia]
snp3D : Map Gene to Disease343263
BioCentury BCIQMYBPHL
ClinGenMYBPHL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD343263
Chemical/Pharm GKB GenePA147357579
Clinical trialMYBPHL
Miscellaneous
canSAR (ICR)MYBPHL (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYBPHL
EVEXMYBPHL
GoPubMedMYBPHL
iHOPMYBPHL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:31:59 CEST 2017

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