Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AASDH (aminoadipate-semialdehyde dehydrogenase)

Identity

Alias_symbol (synonym)NRPS998
LYS2
ACSF4
Other aliasNRPS1098
HGNC (Hugo) AASDH
LocusID (NCBI) 132949
Atlas_Id 46131
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 56338285 and ends at 56387508 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)
AASDH (4q12) / AASDH (4q12)AASDH (4q12) / IRF3 (19q13.33)AASDH (4q12) / KIAA1211 (4q12)
AASDH (4q12) / LRRC66 (4q12)AASDH 4q12 / LRRC66 4q12

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)AASDH   23993
Cards
Entrez_Gene (NCBI)AASDH  132949  aminoadipate-semialdehyde dehydrogenase
AliasesACSF4; LYS2; NRPS1098; NRPS998
GeneCards (Weizmann)AASDH
Ensembl hg19 (Hinxton)ENSG00000157426 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157426 [Gene_View]  chr4:56338285-56387508 [Contig_View]  AASDH [Vega]
ICGC DataPortalENSG00000157426
TCGA cBioPortalAASDH
AceView (NCBI)AASDH
Genatlas (Paris)AASDH
WikiGenes132949
SOURCE (Princeton)AASDH
Genetics Home Reference (NIH)AASDH
Genomic and cartography
GoldenPath hg38 (UCSC)AASDH  -     chr4:56338285-56387508 -  4q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AASDH  -     4q12   [Description]    (hg19-Feb_2009)
EnsemblAASDH - 4q12 [CytoView hg19]  AASDH - 4q12 [CytoView hg38]
Mapping of homologs : NCBIAASDH [Mapview hg19]  AASDH [Mapview hg38]
OMIM614365   
Gene and transcription
Genbank (Entrez)AA743758 AF161436 AF516672 AK294332 AK303733
RefSeq transcript (Entrez)NM_001286668 NM_001286669 NM_001286670 NM_001286671 NM_001286672 NM_001323890 NM_001323892 NM_001323893 NM_001323899 NM_181806
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AASDH
Cluster EST : UnigeneHs.104347 [ NCBI ]
CGAP (NCI)Hs.104347
Alternative Splicing GalleryENSG00000157426
Gene ExpressionAASDH [ NCBI-GEO ]   AASDH [ EBI - ARRAY_EXPRESS ]   AASDH [ SEEK ]   AASDH [ MEM ]
Gene Expression Viewer (FireBrowse)AASDH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)132949
GTEX Portal (Tissue expression)AASDH
Human Protein AtlasENSG00000157426-AASDH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ4L235   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ4L235  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ4L235
Splice isoforms : SwissVarQ4L235
Catalytic activity : Enzyme6.2.1.- [ Enzyme-Expasy ]   6.2.1.-6.2.1.- [ IntEnz-EBI ]   6.2.1.- [ BRENDA ]   6.2.1.- [ KEGG ]   
PhosPhoSitePlusQ4L235
Domaine pattern : Prosite (Expaxy)AMP_BINDING (PS00455)    CARRIER (PS50075)   
Domains : Interpro (EBI)AMP-binding_CS    AMP-dep_Synth/Lig    PP-bd_ACP    PQQ-like_dom    PQQ_beta_propeller_repeat    PQQ_repeat    Quinoprotein_ADH-like_fam    Quinoprotein_ADH-like_supfam   
Domain families : Pfam (Sanger)AMP-binding (PF00501)    PP-binding (PF00550)    PQQ_2 (PF13360)    PQQ_3 (PF13570)   
Domain families : Pfam (NCBI)pfam00501    pfam00550    pfam13360    pfam13570   
Domain families : Smart (EMBL)PQQ (SM00564)  
Conserved Domain (NCBI)AASDH
DMDM Disease mutations132949
Blocks (Seattle)AASDH
SuperfamilyQ4L235
Human Protein Atlas [tissue]ENSG00000157426-AASDH [tissue]
Peptide AtlasQ4L235
HPRD12398
IPIIPI00419992   IPI00880184   IPI00879043   IPI00879228   IPI00910118   
Protein Interaction databases
DIP (DOE-UCLA)Q4L235
IntAct (EBI)Q4L235
FunCoupENSG00000157426
BioGRIDAASDH
STRING (EMBL)AASDH
ZODIACAASDH
Ontologies - Pathways
QuickGOQ4L235
Ontology : AmiGOATP binding  fatty acid metabolic process  acid-thiol ligase activity  beta-alanine metabolic process  amino acid activation for nonribosomal peptide biosynthetic process  
Ontology : EGO-EBIATP binding  fatty acid metabolic process  acid-thiol ligase activity  beta-alanine metabolic process  amino acid activation for nonribosomal peptide biosynthetic process  
NDEx NetworkAASDH
Atlas of Cancer Signalling NetworkAASDH
Wikipedia pathwaysAASDH
Orthology - Evolution
OrthoDB132949
GeneTree (enSembl)ENSG00000157426
Phylogenetic Trees/Animal Genes : TreeFamAASDH
HOVERGENQ4L235
HOGENOMQ4L235
Homologs : HomoloGeneAASDH
Homology/Alignments : Family Browser (UCSC)AASDH
Gene fusions - Rearrangements
Fusion: TCGA_MDACCAASDH 4q12 LRRC66 4q12 GBM
Tumor Fusion PortalAASDH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAASDH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AASDH
dbVarAASDH
ClinVarAASDH
1000_GenomesAASDH 
Exome Variant ServerAASDH
ExAC (Exome Aggregation Consortium)ENSG00000157426
GNOMAD BrowserENSG00000157426
Genetic variants : HAPMAP132949
Genomic Variants (DGV)AASDH [DGVbeta]
DECIPHERAASDH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAASDH 
Mutations
ICGC Data PortalAASDH 
TCGA Data PortalAASDH 
Broad Tumor PortalAASDH
OASIS PortalAASDH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAASDH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAASDH
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 AASDH
DgiDB (Drug Gene Interaction Database)AASDH
DoCM (Curated mutations)AASDH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AASDH (select a term)
intoGenAASDH
Cancer3DAASDH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614365   
Orphanet
DisGeNETAASDH
MedgenAASDH
Genetic Testing Registry AASDH
NextProtQ4L235 [Medical]
TSGene132949
GENETestsAASDH
Target ValidationAASDH
Huge Navigator AASDH [HugePedia]
snp3D : Map Gene to Disease132949
BioCentury BCIQAASDH
ClinGenAASDH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD132949
Chemical/Pharm GKB GenePA162375178
Clinical trialAASDH
Miscellaneous
canSAR (ICR)AASDH (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAASDH
EVEXAASDH
GoPubMedAASDH
iHOPAASDH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:01:34 CET 2017

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