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MYOF (myoferlin)

Identity

Alias_namesFER1L3
fer-1 (C.elegans)-like 3 (myoferlin)
fer-1-like 3, myoferlin (C. elegans)
Alias_symbol (synonym)KIAA1207
Other alias
HGNC (Hugo) MYOF
LocusID (NCBI) 26509
Atlas_Id 40545
Location 10q23.33  [Link to chromosome band 10q23]
Location_base_pair Starts at 93306429 and ends at 93482317 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
IST1 (16q22.2) / MYOF (10q23.33)MYOF (10q23.33) / FBN1 (15q21.1)MYOF (10q23.33) / MYO10 (5p15.1)
MYOF (10q23.33) / MYOF (10q23.33)MYOF (10q23.33) / RBP4 (10q23.33)SKIL (3q26.2) / MYOF (10q23.33)

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)MYOF   3656
Cards
Entrez_Gene (NCBI)MYOF  26509  myoferlin
AliasesFER1L3
GeneCards (Weizmann)MYOF
Ensembl hg19 (Hinxton)ENSG00000138119 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138119 [Gene_View]  chr10:93306429-93482317 [Contig_View]  MYOF [Vega]
ICGC DataPortalENSG00000138119
TCGA cBioPortalMYOF
AceView (NCBI)MYOF
Genatlas (Paris)MYOF
WikiGenes26509
SOURCE (Princeton)MYOF
Genetics Home Reference (NIH)MYOF
Genomic and cartography
GoldenPath hg38 (UCSC)MYOF  -     chr10:93306429-93482317 -  10q23.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYOF  -     10q23.33   [Description]    (hg19-Feb_2009)
EnsemblMYOF - 10q23.33 [CytoView hg19]  MYOF - 10q23.33 [CytoView hg38]
Mapping of homologs : NCBIMYOF [Mapview hg19]  MYOF [Mapview hg38]
OMIM604603   
Gene and transcription
Genbank (Entrez)AB033033 AF182316 AF207990 AK075258 AK093890
RefSeq transcript (Entrez)NM_013451 NM_133337
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYOF
Cluster EST : UnigeneHs.602086 [ NCBI ]
CGAP (NCI)Hs.602086
Alternative Splicing GalleryENSG00000138119
Gene ExpressionMYOF [ NCBI-GEO ]   MYOF [ EBI - ARRAY_EXPRESS ]   MYOF [ SEEK ]   MYOF [ MEM ]
Gene Expression Viewer (FireBrowse)MYOF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26509
GTEX Portal (Tissue expression)MYOF
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZM1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZM1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZM1
Splice isoforms : SwissVarQ9NZM1
PhosPhoSitePlusQ9NZM1
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom    FerIin_dom    Ferlin_A-domain    Ferlin_B-domain    Ferlin_C    Myoferlin    Peroxin/Ferlin   
Domain families : Pfam (Sanger)C2 (PF00168)    FerA (PF08165)    FerB (PF08150)    FerI (PF08151)    Ferlin_C (PF16165)   
Domain families : Pfam (NCBI)pfam00168    pfam08165    pfam08150    pfam08151    pfam16165   
Domain families : Smart (EMBL)C2 (SM00239)  DysFC (SM00694)  DysFN (SM00693)  FerA (SM01200)  FerB (SM01201)  FerI (SM01202)  
Conserved Domain (NCBI)MYOF
DMDM Disease mutations26509
Blocks (Seattle)MYOF
PDB (SRS)2DMH    2K2O   
PDB (PDBSum)2DMH    2K2O   
PDB (IMB)2DMH    2K2O   
PDB (RSDB)2DMH    2K2O   
Structural Biology KnowledgeBase2DMH    2K2O   
SCOP (Structural Classification of Proteins)2DMH    2K2O   
CATH (Classification of proteins structures)2DMH    2K2O   
SuperfamilyQ9NZM1
Human Protein AtlasENSG00000138119
Peptide AtlasQ9NZM1
HPRD06857
IPIIPI00021048   IPI00216268   IPI00479416   IPI00385318   IPI00645867   IPI00830037   IPI00829909   IPI00903320   IPI00216269   IPI01013296   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZM1
IntAct (EBI)Q9NZM1
FunCoupENSG00000138119
BioGRIDMYOF
STRING (EMBL)MYOF
ZODIACMYOF
Ontologies - Pathways
QuickGOQ9NZM1
Ontology : AmiGOplasma membrane repair  protein binding  phospholipid binding  phospholipid binding  nuclear envelope  plasma membrane  caveola  muscle contraction  myoblast fusion  blood circulation  integral component of membrane  cytoplasmic vesicle membrane  regulation of vascular endothelial growth factor receptor signaling pathway  cytoplasmic vesicle  nuclear membrane  cellular response to heat  intracellular membrane-bounded organelle  extracellular exosome  
Ontology : EGO-EBIplasma membrane repair  protein binding  phospholipid binding  phospholipid binding  nuclear envelope  plasma membrane  caveola  muscle contraction  myoblast fusion  blood circulation  integral component of membrane  cytoplasmic vesicle membrane  regulation of vascular endothelial growth factor receptor signaling pathway  cytoplasmic vesicle  nuclear membrane  cellular response to heat  intracellular membrane-bounded organelle  extracellular exosome  
NDEx NetworkMYOF
Atlas of Cancer Signalling NetworkMYOF
Wikipedia pathwaysMYOF
Orthology - Evolution
OrthoDB26509
GeneTree (enSembl)ENSG00000138119
Phylogenetic Trees/Animal Genes : TreeFamMYOF
HOVERGENQ9NZM1
HOGENOMQ9NZM1
Homologs : HomoloGeneMYOF
Homology/Alignments : Family Browser (UCSC)MYOF
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYOF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYOF
dbVarMYOF
ClinVarMYOF
1000_GenomesMYOF 
Exome Variant ServerMYOF
ExAC (Exome Aggregation Consortium)MYOF (select the gene name)
Genetic variants : HAPMAP26509
Genomic Variants (DGV)MYOF [DGVbeta]
DECIPHERMYOF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYOF 
Mutations
ICGC Data PortalMYOF 
TCGA Data PortalMYOF 
Broad Tumor PortalMYOF
OASIS PortalMYOF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYOF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYOF
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 MYOF
DgiDB (Drug Gene Interaction Database)MYOF
DoCM (Curated mutations)MYOF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYOF (select a term)
intoGenMYOF
Cancer3DMYOF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604603   
Orphanet
MedgenMYOF
Genetic Testing Registry MYOF
NextProtQ9NZM1 [Medical]
TSGene26509
GENETestsMYOF
Target ValidationMYOF
Huge Navigator MYOF [HugePedia]
snp3D : Map Gene to Disease26509
BioCentury BCIQMYOF
ClinGenMYOF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26509
Chemical/Pharm GKB GenePA164723288
Clinical trialMYOF
Miscellaneous
canSAR (ICR)MYOF (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYOF
EVEXMYOF
GoPubMedMYOF
iHOPMYOF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:45:54 CEST 2017

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