Atlas of Genetics and Cytogenetics in Oncology and Haematology


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VMA21 (VMA21 vacuolar H+-ATPase homolog (S. cerevisiae))

Identity

Alias_namesMEAX
myopathy with excessive autophagy
Alias_symbol (synonym)XMEA
Other alias
HGNC (Hugo) VMA21
LocusID (NCBI) 203547
Atlas_Id 75611
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 150565657 and ends at 150577836 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
VMA21 (Xq28) / GLIS1 (1p32.3)

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)VMA21   22082
LRG (Locus Reference Genomic)LRG_860
Cards
Entrez_Gene (NCBI)VMA21  203547  VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
AliasesMEAX; XMEA
GeneCards (Weizmann)VMA21
Ensembl hg19 (Hinxton)ENSG00000160131 [Gene_View]  chrX:150565657-150577836 [Contig_View]  VMA21 [Vega]
Ensembl hg38 (Hinxton)ENSG00000160131 [Gene_View]  chrX:150565657-150577836 [Contig_View]  VMA21 [Vega]
ICGC DataPortalENSG00000160131
TCGA cBioPortalVMA21
AceView (NCBI)VMA21
Genatlas (Paris)VMA21
WikiGenes203547
SOURCE (Princeton)VMA21
Genetics Home Reference (NIH)VMA21
Genomic and cartography
GoldenPath hg19 (UCSC)VMA21  -     chrX:150565657-150577836 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)VMA21  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblVMA21 - Xq28 [CytoView hg19]  VMA21 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIVMA21 [Mapview hg19]  VMA21 [Mapview hg38]
OMIM300913   
Gene and transcription
Genbank (Entrez)AF086459 AK025798 AK091301 AK096835 AL833596
RefSeq transcript (Entrez)NM_001017980
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_016761 NT_011681 NW_004929448
Consensus coding sequences : CCDS (NCBI)VMA21
Cluster EST : UnigeneHs.58633 [ NCBI ]
CGAP (NCI)Hs.58633
Alternative Splicing GalleryENSG00000160131
Gene ExpressionVMA21 [ NCBI-GEO ]   VMA21 [ EBI - ARRAY_EXPRESS ]   VMA21 [ SEEK ]   VMA21 [ MEM ]
Gene Expression Viewer (FireBrowse)VMA21 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)203547
GTEX Portal (Tissue expression)VMA21
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3ZAQ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ3ZAQ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ3ZAQ7
Splice isoforms : SwissVarQ3ZAQ7
PhosPhoSitePlusQ3ZAQ7
Domains : Interpro (EBI)Vma21   
Domain families : Pfam (Sanger)VMA21 (PF09446)   
Domain families : Pfam (NCBI)pfam09446   
Conserved Domain (NCBI)VMA21
DMDM Disease mutations203547
Blocks (Seattle)VMA21
SuperfamilyQ3ZAQ7
Human Protein AtlasENSG00000160131
Peptide AtlasQ3ZAQ7
HPRD18578
IPIIPI00146447   IPI00334343   
Protein Interaction databases
DIP (DOE-UCLA)Q3ZAQ7
IntAct (EBI)Q3ZAQ7
FunCoupENSG00000160131
BioGRIDVMA21
STRING (EMBL)VMA21
ZODIACVMA21
Ontologies - Pathways
QuickGOQ3ZAQ7
Ontology : AmiGOlysosome  lysosome  endoplasmic reticulum membrane  integral component of membrane  COPII vesicle coat  endoplasmic reticulum-Golgi intermediate compartment membrane  vacuolar proton-transporting V-type ATPase complex assembly  
Ontology : EGO-EBIlysosome  lysosome  endoplasmic reticulum membrane  integral component of membrane  COPII vesicle coat  endoplasmic reticulum-Golgi intermediate compartment membrane  vacuolar proton-transporting V-type ATPase complex assembly  
NDEx NetworkVMA21
Atlas of Cancer Signalling NetworkVMA21
Wikipedia pathwaysVMA21
Orthology - Evolution
OrthoDB203547
GeneTree (enSembl)ENSG00000160131
Phylogenetic Trees/Animal Genes : TreeFamVMA21
HOVERGENQ3ZAQ7
HOGENOMQ3ZAQ7
Homologs : HomoloGeneVMA21
Homology/Alignments : Family Browser (UCSC)VMA21
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVMA21 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VMA21
dbVarVMA21
ClinVarVMA21
1000_GenomesVMA21 
Exome Variant ServerVMA21
ExAC (Exome Aggregation Consortium)VMA21 (select the gene name)
Genetic variants : HAPMAP203547
Genomic Variants (DGV)VMA21 [DGVbeta]
DECIPHER (Syndromes)X:150565657-150577836  ENSG00000160131
CONAN: Copy Number AnalysisVMA21 
Mutations
ICGC Data PortalVMA21 
TCGA Data PortalVMA21 
Broad Tumor PortalVMA21
OASIS PortalVMA21 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVMA21  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVMA21
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch VMA21
DgiDB (Drug Gene Interaction Database)VMA21
DoCM (Curated mutations)VMA21 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VMA21 (select a term)
intoGenVMA21
Cancer3DVMA21(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300913   
Orphanet8756   
MedgenVMA21
Genetic Testing Registry VMA21
NextProtQ3ZAQ7 [Medical]
TSGene203547
GENETestsVMA21
Huge Navigator VMA21 [HugePedia]
snp3D : Map Gene to Disease203547
BioCentury BCIQVMA21
ClinGenVMA21
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD203547
Chemical/Pharm GKB GenePA164727498
Clinical trialVMA21
Miscellaneous
canSAR (ICR)VMA21 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVMA21
EVEXVMA21
GoPubMedVMA21
iHOPVMA21
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:51:14 CET 2017

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