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CMYA5 (cardiomyopathy associated 5)

Identity

Alias_namesC5orf10
chromosome 5 open reading frame 10
Alias_symbol (synonym)myospryn
SPRYD2
DKFZp451G223
TRIM76
Other alias
HGNC (Hugo) CMYA5
LocusID (NCBI) 202333
Atlas_Id 61928
Location 5q14.1  [Link to chromosome band 5q14]
Location_base_pair Starts at 79689836 and ends at 79800226 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CMYA5 (5q14.1) / RPL23A (17q11.2)MIIP (1p36.22) / CMYA5 (5q14.1)

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)CMYA5   14305
Cards
Entrez_Gene (NCBI)CMYA5  202333  cardiomyopathy associated 5
AliasesC5orf10; SPRYD2; TRIM76
GeneCards (Weizmann)CMYA5
Ensembl hg19 (Hinxton)ENSG00000164309 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164309 [Gene_View]  chr5:79689836-79800226 [Contig_View]  CMYA5 [Vega]
ICGC DataPortalENSG00000164309
TCGA cBioPortalCMYA5
AceView (NCBI)CMYA5
Genatlas (Paris)CMYA5
WikiGenes202333
SOURCE (Princeton)CMYA5
Genetics Home Reference (NIH)CMYA5
Genomic and cartography
GoldenPath hg38 (UCSC)CMYA5  -     chr5:79689836-79800226 +  5q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CMYA5  -     5q14.1   [Description]    (hg19-Feb_2009)
EnsemblCMYA5 - 5q14.1 [CytoView hg19]  CMYA5 - 5q14.1 [CytoView hg38]
Mapping of homologs : NCBICMYA5 [Mapview hg19]  CMYA5 [Mapview hg38]
OMIM612193   
Gene and transcription
Genbank (Entrez)AF177292 AF533705 AK092699 AK096453 AK123466
RefSeq transcript (Entrez)NM_153610
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CMYA5
Cluster EST : UnigeneHs.482625 [ NCBI ]
CGAP (NCI)Hs.482625
Alternative Splicing GalleryENSG00000164309
Gene ExpressionCMYA5 [ NCBI-GEO ]   CMYA5 [ EBI - ARRAY_EXPRESS ]   CMYA5 [ SEEK ]   CMYA5 [ MEM ]
Gene Expression Viewer (FireBrowse)CMYA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)202333
GTEX Portal (Tissue expression)CMYA5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N3K9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N3K9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N3K9
Splice isoforms : SwissVarQ8N3K9
PhosPhoSitePlusQ8N3K9
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    FN3 (PS50853)   
Domains : Interpro (EBI)B30.2/SPRY    ConA-like_dom    FN3_dom    Ig-like_fold   
Domain families : Pfam (Sanger)fn3 (PF00041)   
Domain families : Pfam (NCBI)pfam00041   
Domain families : Smart (EMBL)FN3 (SM00060)  
Conserved Domain (NCBI)CMYA5
DMDM Disease mutations202333
Blocks (Seattle)CMYA5
SuperfamilyQ8N3K9
Human Protein AtlasENSG00000164309
Peptide AtlasQ8N3K9
HPRD16728
IPIIPI00166612   IPI00983471   
Protein Interaction databases
DIP (DOE-UCLA)Q8N3K9
IntAct (EBI)Q8N3K9
FunCoupENSG00000164309
BioGRIDCMYA5
STRING (EMBL)CMYA5
ZODIACCMYA5
Ontologies - Pathways
QuickGOQ8N3K9
Ontology : AmiGOprotein binding  M band  perinuclear region of cytoplasm  
Ontology : EGO-EBIprotein binding  M band  perinuclear region of cytoplasm  
NDEx NetworkCMYA5
Atlas of Cancer Signalling NetworkCMYA5
Wikipedia pathwaysCMYA5
Orthology - Evolution
OrthoDB202333
GeneTree (enSembl)ENSG00000164309
Phylogenetic Trees/Animal Genes : TreeFamCMYA5
HOVERGENQ8N3K9
HOGENOMQ8N3K9
Homologs : HomoloGeneCMYA5
Homology/Alignments : Family Browser (UCSC)CMYA5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCMYA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CMYA5
dbVarCMYA5
ClinVarCMYA5
1000_GenomesCMYA5 
Exome Variant ServerCMYA5
ExAC (Exome Aggregation Consortium)CMYA5 (select the gene name)
Genetic variants : HAPMAP202333
Genomic Variants (DGV)CMYA5 [DGVbeta]
DECIPHERCMYA5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCMYA5 
Mutations
ICGC Data PortalCMYA5 
TCGA Data PortalCMYA5 
Broad Tumor PortalCMYA5
OASIS PortalCMYA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCMYA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCMYA5
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 CMYA5
DgiDB (Drug Gene Interaction Database)CMYA5
DoCM (Curated mutations)CMYA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CMYA5 (select a term)
intoGenCMYA5
Cancer3DCMYA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612193   
Orphanet
MedgenCMYA5
Genetic Testing Registry CMYA5
NextProtQ8N3K9 [Medical]
TSGene202333
GENETestsCMYA5
Target ValidationCMYA5
Huge Navigator CMYA5 [HugePedia]
snp3D : Map Gene to Disease202333
BioCentury BCIQCMYA5
ClinGenCMYA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD202333
Chemical/Pharm GKB GenePA37868
Clinical trialCMYA5
Miscellaneous
canSAR (ICR)CMYA5 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCMYA5
EVEXCMYA5
GoPubMedCMYA5
iHOPCMYA5
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 15:44:00 CEST 2017

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