Atlas of Genetics and Cytogenetics in Oncology and Haematology

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AASDHPPT (aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase)

Identity

Alias_symbol (synonym)LYS5
CGI-80
AASD-PPT
ACPS
Other aliasLYS2
HGNC (Hugo) AASDHPPT
LocusID (NCBI) 60496
Atlas_Id 60022
Location 11q22.3  [Link to chromosome band 11q22]
Location_base_pair Starts at 106077565 and ends at 106098692 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CLDN11 (3q26.2) / AASDHPPT (11q22.3)

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)AASDHPPT   14235
Cards
Entrez_Gene (NCBI)AASDHPPT  60496  aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
AliasesAASD-PPT; ACPS; CGI-80; LYS2; 
LYS5
GeneCards (Weizmann)AASDHPPT
Ensembl hg19 (Hinxton)ENSG00000149313 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149313 [Gene_View]  ENSG00000149313 [Sequence]  chr11:106077565-106098692 [Contig_View]  AASDHPPT [Vega]
ICGC DataPortalENSG00000149313
TCGA cBioPortalAASDHPPT
AceView (NCBI)AASDHPPT
Genatlas (Paris)AASDHPPT
WikiGenes60496
SOURCE (Princeton)AASDHPPT
Genetics Home Reference (NIH)AASDHPPT
Genomic and cartography
GoldenPath hg38 (UCSC)AASDHPPT  -     chr11:106077565-106098692 +  11q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AASDHPPT  -     11q22.3   [Description]    (hg19-Feb_2009)
GoldenPathAASDHPPT - 11q22.3 [CytoView hg19]  AASDHPPT - 11q22.3 [CytoView hg38]
ImmunoBaseENSG00000149313
Mapping of homologs : NCBIAASDHPPT [Mapview hg19]  AASDHPPT [Mapview hg38]
OMIM607756   
Gene and transcription
Genbank (Entrez)AB072896 AF136978 AF151057 AF151838 AF201943
RefSeq transcript (Entrez)NM_015423
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AASDHPPT
Cluster EST : UnigeneHs.524009 [ NCBI ]
CGAP (NCI)Hs.524009
Alternative Splicing GalleryENSG00000149313
Gene ExpressionAASDHPPT [ NCBI-GEO ]   AASDHPPT [ EBI - ARRAY_EXPRESS ]   AASDHPPT [ SEEK ]   AASDHPPT [ MEM ]
Gene Expression Viewer (FireBrowse)AASDHPPT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60496
GTEX Portal (Tissue expression)AASDHPPT
Human Protein AtlasENSG00000149313-AASDHPPT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRN7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRN7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRN7
Splice isoforms : SwissVarQ9NRN7
Catalytic activity : Enzyme2.7.8.- [ Enzyme-Expasy ]   2.7.8.-2.7.8.- [ IntEnz-EBI ]   2.7.8.- [ BRENDA ]   2.7.8.- [ KEGG ]   
PhosPhoSitePlusQ9NRN7
Domains : Interpro (EBI)4-PPantetheinyl_Trfase_SF   
Domain families : Pfam (Sanger)ACPS (PF01648)   
Domain families : Pfam (NCBI)pfam01648   
Conserved Domain (NCBI)AASDHPPT
DMDM Disease mutations60496
Blocks (Seattle)AASDHPPT
PDB (RSDB)2BYD    2C43    2CG5   
PDB Europe2BYD    2C43    2CG5   
PDB (PDBSum)2BYD    2C43    2CG5   
PDB (IMB)2BYD    2C43    2CG5   
Structural Biology KnowledgeBase2BYD    2C43    2CG5   
SCOP (Structural Classification of Proteins)2BYD    2C43    2CG5   
CATH (Classification of proteins structures)2BYD    2C43    2CG5   
SuperfamilyQ9NRN7
Human Protein Atlas [tissue]ENSG00000149313-AASDHPPT [tissue]
Peptide AtlasQ9NRN7
HPRD09675
IPIIPI00250297   IPI00012921   IPI00981579   IPI00982715   IPI00982161   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRN7
IntAct (EBI)Q9NRN7
FunCoupENSG00000149313
BioGRIDAASDHPPT
STRING (EMBL)AASDHPPT
ZODIACAASDHPPT
Ontologies - Pathways
QuickGOQ9NRN7
Ontology : AmiGOmagnesium ion binding  protein binding  cytosol  holo-[acyl-carrier-protein] synthase activity  holo-[acyl-carrier-protein] synthase activity  pantothenate metabolic process  lysine biosynthetic process via aminoadipic acid  extracellular exosome  
Ontology : EGO-EBImagnesium ion binding  protein binding  cytosol  holo-[acyl-carrier-protein] synthase activity  holo-[acyl-carrier-protein] synthase activity  pantothenate metabolic process  lysine biosynthetic process via aminoadipic acid  extracellular exosome  
Pathways : KEGGLysine degradation    Lysine biosynthesis   
NDEx NetworkAASDHPPT
Atlas of Cancer Signalling NetworkAASDHPPT
Wikipedia pathwaysAASDHPPT
Orthology - Evolution
OrthoDB60496
GeneTree (enSembl)ENSG00000149313
Phylogenetic Trees/Animal Genes : TreeFamAASDHPPT
HOGENOMQ9NRN7
Homologs : HomoloGeneAASDHPPT
Homology/Alignments : Family Browser (UCSC)AASDHPPT
Gene fusions - Rearrangements
Fusion : QuiverAASDHPPT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAASDHPPT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AASDHPPT
dbVarAASDHPPT
ClinVarAASDHPPT
1000_GenomesAASDHPPT 
Exome Variant ServerAASDHPPT
ExAC (Exome Aggregation Consortium)ENSG00000149313
GNOMAD BrowserENSG00000149313
Varsome BrowserAASDHPPT
Genetic variants : HAPMAP60496
Genomic Variants (DGV)AASDHPPT [DGVbeta]
DECIPHERAASDHPPT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAASDHPPT 
Mutations
ICGC Data PortalAASDHPPT 
TCGA Data PortalAASDHPPT 
Broad Tumor PortalAASDHPPT
OASIS PortalAASDHPPT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAASDHPPT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAASDHPPT
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 AASDHPPT
DgiDB (Drug Gene Interaction Database)AASDHPPT
DoCM (Curated mutations)AASDHPPT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AASDHPPT (select a term)
intoGenAASDHPPT
Cancer3DAASDHPPT(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607756   
Orphanet
DisGeNETAASDHPPT
MedgenAASDHPPT
Genetic Testing Registry AASDHPPT
NextProtQ9NRN7 [Medical]
TSGene60496
GENETestsAASDHPPT
Target ValidationAASDHPPT
Huge Navigator AASDHPPT [HugePedia]
snp3D : Map Gene to Disease60496
BioCentury BCIQAASDHPPT
ClinGenAASDHPPT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60496
Chemical/Pharm GKB GenePA24368
Clinical trialAASDHPPT
Miscellaneous
canSAR (ICR)AASDHPPT (select the gene name)
DataMed IndexAASDHPPT
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAASDHPPT
EVEXAASDHPPT
GoPubMedAASDHPPT
iHOPAASDHPPT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 7 17:09:59 CEST 2019
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