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MTAP (methylthioadenosine phosphorylase)

Identity

Alias_symbol (synonym)MSAP
c86fus
Other aliasBDMF
DMSFH
DMSMFH
HEL-249
LGMBF
HGNC (Hugo) MTAP
LocusID (NCBI) 4507
Atlas_Id 53357
Location 9p21.3  [Link to chromosome band 9p21]
Location_base_pair Starts at 21802636 and ends at 21865970 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BNC2 (9p22.3) / MTAP (9p21.3)CDKN2A (9p21.3) / MTAP (9p21.3)MTAP (9p21.3) / BNC2 (9p22.3)
MTAP (9p21.3) / CDKN2A (9p21.3)MTAP (9p21.3) / CDKN2B (9p21.3)MTAP (9p21.3) / CDKN2B-AS1 (9p21.3)
MTAP (9p21.3) / EXOC6B (2p13.2)MTAP (9p21.3) / LINGO2 (9p21.2)MTAP (9p21.3) / MTAP (9p21.3)
MTAP (9p21.3) / PCDH7 (4p15.1)MTAP (9p21.3) / POC1B (12q21.33)UPF2 (10p14) / MTAP (9p21.3)
ZNF618 (9q32) / MTAP (9p21.3)MTAP 9p21.3 / CDKN2A 9p21.3MTAP 9p21.3 / EXOC6B 2p13.2
MTAP 9p21.3 / POC1B 12q21.33ZNF618 9q32 / MTAP 9p21.3

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(9p) in Acute Lymphoblastic Leukemia


External links

Nomenclature
HGNC (Hugo)MTAP   7413
Cards
Entrez_Gene (NCBI)MTAP  4507  methylthioadenosine phosphorylase
AliasesBDMF; DMSFH; DMSMFH; HEL-249; 
LGMBF; MSAP; c86fus
GeneCards (Weizmann)MTAP
Ensembl hg19 (Hinxton)ENSG00000099810 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099810 [Gene_View]  chr9:21802636-21865970 [Contig_View]  MTAP [Vega]
ICGC DataPortalENSG00000099810
TCGA cBioPortalMTAP
AceView (NCBI)MTAP
Genatlas (Paris)MTAP
WikiGenes4507
SOURCE (Princeton)MTAP
Genetics Home Reference (NIH)MTAP
Genomic and cartography
GoldenPath hg38 (UCSC)MTAP  -     chr9:21802636-21865970 +  9p21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTAP  -     9p21.3   [Description]    (hg19-Feb_2009)
EnsemblMTAP - 9p21.3 [CytoView hg19]  MTAP - 9p21.3 [CytoView hg38]
Mapping of homologs : NCBIMTAP [Mapview hg19]  MTAP [Mapview hg38]
OMIM156540   
Gene and transcription
Genbank (Entrez)AB062485 AF109294 AF216650 AK024734 AK300592
RefSeq transcript (Entrez)NM_002451
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTAP
Cluster EST : UnigeneHs.193268 [ NCBI ]
CGAP (NCI)Hs.193268
Alternative Splicing GalleryENSG00000099810
Gene ExpressionMTAP [ NCBI-GEO ]   MTAP [ EBI - ARRAY_EXPRESS ]   MTAP [ SEEK ]   MTAP [ MEM ]
Gene Expression Viewer (FireBrowse)MTAP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4507
GTEX Portal (Tissue expression)MTAP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13126   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13126  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13126
Splice isoforms : SwissVarQ13126
PhosPhoSitePlusQ13126
Domaine pattern : Prosite (Expaxy)PNP_MTAP_2 (PS01240)   
Domains : Interpro (EBI)MTAP    Nucleoside_phosphorylase_d    Purine_phosphorylase-2_CS   
Domain families : Pfam (Sanger)PNP_UDP_1 (PF01048)   
Domain families : Pfam (NCBI)pfam01048   
Conserved Domain (NCBI)MTAP
DMDM Disease mutations4507
Blocks (Seattle)MTAP
PDB (SRS)1CB0    1CG6    1K27    1SD1    1SD2    3LN5    3OZC    3OZD    3OZE    5EUB   
PDB (PDBSum)1CB0    1CG6    1K27    1SD1    1SD2    3LN5    3OZC    3OZD    3OZE    5EUB   
PDB (IMB)1CB0    1CG6    1K27    1SD1    1SD2    3LN5    3OZC    3OZD    3OZE    5EUB   
PDB (RSDB)1CB0    1CG6    1K27    1SD1    1SD2    3LN5    3OZC    3OZD    3OZE    5EUB   
Structural Biology KnowledgeBase1CB0    1CG6    1K27    1SD1    1SD2    3LN5    3OZC    3OZD    3OZE    5EUB   
SCOP (Structural Classification of Proteins)1CB0    1CG6    1K27    1SD1    1SD2    3LN5    3OZC    3OZD    3OZE    5EUB   
CATH (Classification of proteins structures)1CB0    1CG6    1K27    1SD1    1SD2    3LN5    3OZC    3OZD    3OZE    5EUB   
SuperfamilyQ13126
Human Protein AtlasENSG00000099810
Peptide AtlasQ13126
HPRD01134
IPIIPI00011876   IPI00016626   IPI00386452   IPI00382958   IPI00915917   IPI00903024   
Protein Interaction databases
DIP (DOE-UCLA)Q13126
IntAct (EBI)Q13126
FunCoupENSG00000099810
BioGRIDMTAP
STRING (EMBL)MTAP
ZODIACMTAP
Ontologies - Pathways
QuickGOQ13126
Ontology : AmiGOphosphorylase activity  protein binding  nucleus  cytosol  cytosol  nucleobase-containing compound metabolic process  purine ribonucleoside salvage  nicotinamide riboside catabolic process  S-methyl-5-thioadenosine phosphorylase activity  L-methionine salvage from methylthioadenosine  L-methionine salvage from methylthioadenosine  extracellular exosome  
Ontology : EGO-EBIphosphorylase activity  protein binding  nucleus  cytosol  cytosol  nucleobase-containing compound metabolic process  purine ribonucleoside salvage  nicotinamide riboside catabolic process  S-methyl-5-thioadenosine phosphorylase activity  L-methionine salvage from methylthioadenosine  L-methionine salvage from methylthioadenosine  extracellular exosome  
Pathways : KEGGCysteine and methionine metabolism   
NDEx NetworkMTAP
Atlas of Cancer Signalling NetworkMTAP
Wikipedia pathwaysMTAP
Orthology - Evolution
OrthoDB4507
GeneTree (enSembl)ENSG00000099810
Phylogenetic Trees/Animal Genes : TreeFamMTAP
HOVERGENQ13126
HOGENOMQ13126
Homologs : HomoloGeneMTAP
Homology/Alignments : Family Browser (UCSC)MTAP
Gene fusions - Rearrangements
Fusion : MitelmanCDKN2A/MTAP [9p21.3/9p21.3]  [t(9;9)(p21;p21)]  
Fusion : MitelmanMTAP/CDKN2A [9p21.3/9p21.3]  [t(9;9)(p21;p21)]  
Fusion : MitelmanMTAP/EXOC6B [9p21.3/2p13.2]  [t(2;9)(p13;p21)]  
Fusion : MitelmanMTAP/PCDH7 [9p21.3/4p15.1]  [t(4;9)(p15;p21)]  
Fusion : MitelmanMTAP/POC1B [9p21.3/12q21.33]  [t(9;12)(p21;q21)]  
Fusion : MitelmanZNF618/MTAP [9q32/9p21.3]  [t(9;9)(p21;q32)]  
Fusion: TCGAMTAP 9p21.3 CDKN2A 9p21.3 BRCA
Fusion: TCGAMTAP 9p21.3 EXOC6B 2p13.2 LUAD
Fusion: TCGAMTAP 9p21.3 POC1B 12q21.33 LUAD
Fusion: TCGAZNF618 9q32 MTAP 9p21.3 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTAP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTAP
dbVarMTAP
ClinVarMTAP
1000_GenomesMTAP 
Exome Variant ServerMTAP
ExAC (Exome Aggregation Consortium)MTAP (select the gene name)
Genetic variants : HAPMAP4507
Genomic Variants (DGV)MTAP [DGVbeta]
DECIPHERMTAP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTAP 
Mutations
ICGC Data PortalMTAP 
TCGA Data PortalMTAP 
Broad Tumor PortalMTAP
OASIS PortalMTAP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTAP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMTAP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch MTAP
DgiDB (Drug Gene Interaction Database)MTAP
DoCM (Curated mutations)MTAP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTAP (select a term)
intoGenMTAP
Cancer3DMTAP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM156540   
Orphanet11645   
MedgenMTAP
Genetic Testing Registry MTAP
NextProtQ13126 [Medical]
TSGene4507
GENETestsMTAP
Huge Navigator MTAP [HugePedia]
snp3D : Map Gene to Disease4507
BioCentury BCIQMTAP
ClinGenMTAP (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4507
Chemical/Pharm GKB GenePA31220
Clinical trialMTAP
Miscellaneous
canSAR (ICR)MTAP (select the gene name)
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTAP
EVEXMTAP
GoPubMedMTAP
iHOPMTAP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:27:23 CEST 2017

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