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MYO7A (myosin VIIA)

Identity

Other namesDFNA11
DFNB2
MYOVIIA
MYU7A
NSRD2
USH1B
HGNC (Hugo) MYO7A
LocusID (NCBI) 4647
Atlas_Id 51198
Location 11q13.5
Location_base_pair Starts at 76839310 and ends at 76926286 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
GAB2 11q14.1 / MYO7A 11q13.5MBTD1 17q21.33 / MYO7A 11q13.5MYO7A 11q13.5 / GAB2 11q14.1
PAK1 11q13.5 / MYO7A 11q13.5

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)MYO7A   7606
Cards
Entrez_Gene (NCBI)MYO7A  4647  myosin VIIA
GeneCards (Weizmann)MYO7A
Ensembl hg19 (Hinxton)ENSG00000137474 [Gene_View]  chr11:76839310-76926286 [Contig_View]  MYO7A [Vega]
Ensembl hg38 (Hinxton)ENSG00000137474 [Gene_View]  chr11:76839310-76926286 [Contig_View]  MYO7A [Vega]
ICGC DataPortalENSG00000137474
TCGA cBioPortalMYO7A
AceView (NCBI)MYO7A
Genatlas (Paris)MYO7A
WikiGenes4647
SOURCE (Princeton)MYO7A
Genomic and cartography
GoldenPath hg19 (UCSC)MYO7A  -     chr11:76839310-76926286 +  11q13.5   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYO7A  -     11q13.5   [Description]    (hg38-Dec_2013)
EnsemblMYO7A - 11q13.5 [CytoView hg19]  MYO7A - 11q13.5 [CytoView hg38]
Mapping of homologs : NCBIMYO7A [Mapview hg19]  MYO7A [Mapview hg38]
OMIM276900   276903   600060   601317   
Gene and transcription
Genbank (Entrez)AB209629 AB290181 BC023212 BC030215 BC144519
RefSeq transcript (Entrez)NM_000260 NM_001127179 NM_001127180
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_009086 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)MYO7A
Cluster EST : UnigeneHs.370421 [ NCBI ]
CGAP (NCI)Hs.370421
Alternative Splicing : Fast-db (Paris)GSHG0005132
Alternative Splicing GalleryENSG00000137474
Gene ExpressionMYO7A [ NCBI-GEO ]     MYO7A [ SEEK ]   MYO7A [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)4647
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13402 (Uniprot)
NextProtQ13402  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13402
Splice isoforms : SwissVarQ13402 (Swissvar)
PhosPhoSitePlusQ13402
Domaine pattern : Prosite (Expaxy)FERM_3 (PS50057)    IQ (PS50096)    MYOSIN_MOTOR (PS51456)    MYTH4 (PS51016)    SH3 (PS50002)   
Domains : Interpro (EBI)Band_41_domain    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_domain    FERM_N    IQ_motif_EF-hand-BS    Myosin_head_motor_dom    MyTH4_dom    P-loop_NTPase    PH-like_dom    SH3_domain    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)FERM_M (PF00373)    FERM_N (PF09379)    IQ (PF00612)    Myosin_head (PF00063)    MyTH4 (PF00784)   
Domain families : Pfam (NCBI)pfam00373    pfam09379    pfam00612    pfam00063    pfam00784   
Domain families : Smart (EMBL)B41 (SM00295)  IQ (SM00015)  MYSc (SM00242)  MyTH4 (SM00139)  SH3 (SM00326)  
DMDM Disease mutations4647
Blocks (Seattle)MYO7A
Human Protein AtlasENSG00000137474
Peptide AtlasQ13402
HPRD02043
IPIIPI00013193   IPI00215753   IPI00936807   IPI00215756   IPI00215758   IPI00215759   IPI00974154   IPI00556583   IPI01008846   IPI00215754   IPI00943793   IPI00974025   
Protein Interaction databases
DIP (DOE-UCLA)Q13402
IntAct (EBI)Q13402
FunCoupENSG00000137474
BioGRIDMYO7A
IntegromeDBMYO7A
STRING (EMBL)MYO7A
ZODIACMYO7A
Ontologies - Pathways
QuickGOQ13402
Ontology : AmiGOmicrofilament motor activity  photoreceptor outer segment  phagolysosome assembly  photoreceptor inner segment  protein binding  calmodulin binding  ATP binding  cytoplasm  lysosomal membrane  cytosol  microvillus  cell cortex  intracellular protein transport  lysosome organization  visual perception  sensory perception of sound  metabolic process  apical plasma membrane  protein domain specific binding  actin filament-based movement  spectrin binding  actin-dependent ATPase activity  myosin VII complex  photoreceptor connecting cilium  stereocilium  eye photoreceptor cell development  melanosome  protein homodimerization activity  ADP binding  synapse  protein N-terminus binding  post-embryonic organ morphogenesis  sensory perception of light stimulus  equilibrioception  actin filament binding  pigment granule transport  auditory receptor cell stereocilium organization  upper tip-link density  
Ontology : EGO-EBImicrofilament motor activity  photoreceptor outer segment  phagolysosome assembly  photoreceptor inner segment  protein binding  calmodulin binding  ATP binding  cytoplasm  lysosomal membrane  cytosol  microvillus  cell cortex  intracellular protein transport  lysosome organization  visual perception  sensory perception of sound  metabolic process  apical plasma membrane  protein domain specific binding  actin filament-based movement  spectrin binding  actin-dependent ATPase activity  myosin VII complex  photoreceptor connecting cilium  stereocilium  eye photoreceptor cell development  melanosome  protein homodimerization activity  ADP binding  synapse  protein N-terminus binding  post-embryonic organ morphogenesis  sensory perception of light stimulus  equilibrioception  actin filament binding  pigment granule transport  auditory receptor cell stereocilium organization  upper tip-link density  
Protein Interaction DatabaseMYO7A
Atlas of Cancer Signalling NetworkMYO7A
Wikipedia pathwaysMYO7A
Orthology - Evolution
OrthoDB4647
GeneTree (enSembl)ENSG00000137474
Phylogenetic Trees/Animal Genes : TreeFamMYO7A
Homologs : HomoloGeneMYO7A
Homology/Alignments : Family Browser (UCSC)MYO7A
Gene fusions - Rearrangements
Fusion: TCGAGAB2 11q14.1 MYO7A 11q13.5 BRCA
Fusion: TCGAMBTD1 17q21.33 MYO7A 11q13.5 BRCA
Fusion: TCGAMYO7A 11q13.5 GAB2 11q14.1 BRCA
Fusion: TCGAPAK1 11q13.5 MYO7A 11q13.5 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerMYO7A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYO7A
dbVarMYO7A
ClinVarMYO7A
1000_GenomesMYO7A 
Exome Variant ServerMYO7A
Exome Aggregation Consortium (ExAC)ENSG00000137474
SNP (GeneSNP Utah)MYO7A
SNP : HGBaseMYO7A
Genetic variants : HAPMAPMYO7A
Genomic Variants (DGV)MYO7A [DGVbeta]
Mutations
ICGC Data PortalMYO7A 
TCGA Data PortalMYO7A 
Tumor PortalMYO7A
TCGA Copy Number PortalMYO7A
Somatic Mutations in Cancer : COSMICMYO7A 
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)Retinal and hearing impairment genetic mutation database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MYO7A
DgiDB (Drug Gene Interaction Database)MYO7A
DoCM (Curated mutations)MYO7A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYO7A (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:76839310-76926286
CONAN: Copy Number AnalysisMYO7A 
Mutations and Diseases : HGMDMYO7A
OMIM276900    276903    600060    601317   
MedgenMYO7A
NextProtQ13402 [Medical]
TSGene4647
GENETestsMYO7A
Huge Navigator MYO7A [HugePedia]  MYO7A [HugeCancerGEM]
snp3D : Map Gene to Disease4647
BioCentury BCIQMYO7A
General knowledge
Chemical/Protein Interactions : CTD4647
Chemical/Pharm GKB GenePA31411
Clinical trialMYO7A
Other databases
Probes
Litterature
PubMed102 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYO7A
GoPubMedMYO7A
iHOPMYO7A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 16 19:06:39 CET 2016

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