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MYOM1 (myomesin 1)

Identity

Alias_namesmyomesin 1 (skelemin) (185kD)
myomesin 1 (skelemin) 185kDa
myomesin 1, 185kDa
Other aliasSKELEMIN
HGNC (Hugo) MYOM1
LocusID (NCBI) 8736
Atlas_Id 41483
Location 18p11.31  [Link to chromosome band 18p11]
Location_base_pair Starts at 3066807 and ends at 3220108 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)
CELF1 (11p11.2) / MYOM1 (18p11.31)FHOD3 (18q12.2) / MYOM1 (18p11.31)LPIN2 (18p11.31) / MYOM1 (18p11.31)
CELF1 11p11.2 / MYOM1 18p11.31FHOD3 18q12.2 / MYOM1 18p11.31LPIN2 18p11.31 / MYOM1 18p11.31

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)MYOM1   7613
LRG (Locus Reference Genomic)LRG_426
Cards
Entrez_Gene (NCBI)MYOM1  8736  myomesin 1
AliasesSKELEMIN
GeneCards (Weizmann)MYOM1
Ensembl hg19 (Hinxton)ENSG00000101605 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101605 [Gene_View]  chr18:3066807-3220108 [Contig_View]  MYOM1 [Vega]
ICGC DataPortalENSG00000101605
TCGA cBioPortalMYOM1
AceView (NCBI)MYOM1
Genatlas (Paris)MYOM1
WikiGenes8736
SOURCE (Princeton)MYOM1
Genetics Home Reference (NIH)MYOM1
Genomic and cartography
GoldenPath hg38 (UCSC)MYOM1  -     chr18:3066807-3220108 -  18p11.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYOM1  -     18p11.31   [Description]    (hg19-Feb_2009)
EnsemblMYOM1 - 18p11.31 [CytoView hg19]  MYOM1 - 18p11.31 [CytoView hg38]
Mapping of homologs : NCBIMYOM1 [Mapview hg19]  MYOM1 [Mapview hg38]
OMIM603508   
Gene and transcription
Genbank (Entrez)AF185573 AI221348 AJ621424 AK125322 AK302444
RefSeq transcript (Entrez)NM_003803 NM_019856
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYOM1
Cluster EST : UnigeneHs.464469 [ NCBI ]
CGAP (NCI)Hs.464469
Alternative Splicing GalleryENSG00000101605
Gene ExpressionMYOM1 [ NCBI-GEO ]   MYOM1 [ EBI - ARRAY_EXPRESS ]   MYOM1 [ SEEK ]   MYOM1 [ MEM ]
Gene Expression Viewer (FireBrowse)MYOM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8736
GTEX Portal (Tissue expression)MYOM1
Human Protein AtlasENSG00000101605-MYOM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52179   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP52179  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP52179
Splice isoforms : SwissVarP52179
PhosPhoSitePlusP52179
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)MYOM1
DMDM Disease mutations8736
Blocks (Seattle)MYOM1
PDB (SRS)2R15    2Y23    2Y25    3RBS    5FM4    5FM5    5FM8   
PDB (PDBSum)2R15    2Y23    2Y25    3RBS    5FM4    5FM5    5FM8   
PDB (IMB)2R15    2Y23    2Y25    3RBS    5FM4    5FM5    5FM8   
PDB (RSDB)2R15    2Y23    2Y25    3RBS    5FM4    5FM5    5FM8   
Structural Biology KnowledgeBase2R15    2Y23    2Y25    3RBS    5FM4    5FM5    5FM8   
SCOP (Structural Classification of Proteins)2R15    2Y23    2Y25    3RBS    5FM4    5FM5    5FM8   
CATH (Classification of proteins structures)2R15    2Y23    2Y25    3RBS    5FM4    5FM5    5FM8   
SuperfamilyP52179
Human Protein Atlas [tissue]ENSG00000101605-MYOM1 [tissue]
Peptide AtlasP52179
HPRD04618
IPIIPI00434580   IPI00479390   IPI00647020   
Protein Interaction databases
DIP (DOE-UCLA)P52179
IntAct (EBI)P52179
FunCoupENSG00000101605
BioGRIDMYOM1
STRING (EMBL)MYOM1
ZODIACMYOM1
Ontologies - Pathways
QuickGOP52179
Ontology : AmiGOextraocular skeletal muscle development  protein binding  striated muscle myosin thick filament  striated muscle contraction  actin filament organization  structural constituent of muscle  positive regulation of gene expression  positive regulation of gene expression  protein kinase A signaling  kinase binding  Z disc  M band  M band  identical protein binding  protein homodimerization activity  sarcomere organization  positive regulation of protein secretion  positive regulation of protein secretion  actin filament binding  muscle alpha-actinin binding  striated muscle myosin thick filament assembly  structural molecule activity conferring elasticity  
Ontology : EGO-EBIextraocular skeletal muscle development  protein binding  striated muscle myosin thick filament  striated muscle contraction  actin filament organization  structural constituent of muscle  positive regulation of gene expression  positive regulation of gene expression  protein kinase A signaling  kinase binding  Z disc  M band  M band  identical protein binding  protein homodimerization activity  sarcomere organization  positive regulation of protein secretion  positive regulation of protein secretion  actin filament binding  muscle alpha-actinin binding  striated muscle myosin thick filament assembly  structural molecule activity conferring elasticity  
NDEx NetworkMYOM1
Atlas of Cancer Signalling NetworkMYOM1
Wikipedia pathwaysMYOM1
Orthology - Evolution
OrthoDB8736
GeneTree (enSembl)ENSG00000101605
Phylogenetic Trees/Animal Genes : TreeFamMYOM1
HOVERGENP52179
HOGENOMP52179
Homologs : HomoloGeneMYOM1
Homology/Alignments : Family Browser (UCSC)MYOM1
Gene fusions - Rearrangements
Fusion : MitelmanCELF1/MYOM1 [11p11.2/18p11.31]  [t(11;18)(p11;p11)]  
Fusion : MitelmanFHOD3/MYOM1 [18q12.2/18p11.31]  [t(18;18)(p11;q12)]  
Fusion : MitelmanLPIN2/MYOM1 [18p11.31/18p11.31]  [t(18;18)(p11;p11)]  
Fusion: TCGA_MDACCCELF1 11p11.2 MYOM1 18p11.31 LUAD
Fusion: TCGA_MDACCFHOD3 18q12.2 MYOM1 18p11.31 LUAD
Fusion: TCGA_MDACCLPIN2 18p11.31 MYOM1 18p11.31 LUAD
Tumor Fusion PortalMYOM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYOM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYOM1
dbVarMYOM1
ClinVarMYOM1
1000_GenomesMYOM1 
Exome Variant ServerMYOM1
ExAC (Exome Aggregation Consortium)ENSG00000101605
GNOMAD BrowserENSG00000101605
Genetic variants : HAPMAP8736
Genomic Variants (DGV)MYOM1 [DGVbeta]
DECIPHERMYOM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYOM1 
Mutations
ICGC Data PortalMYOM1 
TCGA Data PortalMYOM1 
Broad Tumor PortalMYOM1
OASIS PortalMYOM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYOM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYOM1
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 MYOM1
DgiDB (Drug Gene Interaction Database)MYOM1
DoCM (Curated mutations)MYOM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYOM1 (select a term)
intoGenMYOM1
Cancer3DMYOM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603508   
Orphanet
DisGeNETMYOM1
MedgenMYOM1
Genetic Testing Registry MYOM1
NextProtP52179 [Medical]
TSGene8736
GENETestsMYOM1
Target ValidationMYOM1
Huge Navigator MYOM1 [HugePedia]
snp3D : Map Gene to Disease8736
BioCentury BCIQMYOM1
ClinGenMYOM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8736
Chemical/Pharm GKB GenePA31418
Clinical trialMYOM1
Miscellaneous
canSAR (ICR)MYOM1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYOM1
EVEXMYOM1
GoPubMedMYOM1
iHOPMYOM1
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 14:25:20 CET 2017

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