Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SMPDL3A (sphingomyelin phosphodiesterase acid like 3A)

Identity

Alias_namessphingomyelin phosphodiesterase acid-like 3A
Alias_symbol (synonym)FLJ20177
ASM3A
ASML3a
yR36GH4.1
Other alias
HGNC (Hugo) SMPDL3A
LocusID (NCBI) 10924
Atlas_Id 45761
Location 6q22.31  [Link to chromosome band 6q22]
Location_base_pair Starts at 122789049 and ends at 122809719 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)
RAB27A (15q21.3) / SMPDL3A (6q22.31)SMPDL3A (6q22.31) / TNIK (3q26.2)

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)SMPDL3A   17389
Cards
Entrez_Gene (NCBI)SMPDL3A  10924  sphingomyelin phosphodiesterase acid like 3A
AliasesASM3A; ASML3a; yR36GH4.1
GeneCards (Weizmann)SMPDL3A
Ensembl hg19 (Hinxton)ENSG00000172594 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172594 [Gene_View]  ENSG00000172594 [Sequence]  chr6:122789049-122809719 [Contig_View]  SMPDL3A [Vega]
ICGC DataPortalENSG00000172594
TCGA cBioPortalSMPDL3A
AceView (NCBI)SMPDL3A
Genatlas (Paris)SMPDL3A
WikiGenes10924
SOURCE (Princeton)SMPDL3A
Genetics Home Reference (NIH)SMPDL3A
Genomic and cartography
GoldenPath hg38 (UCSC)SMPDL3A  -     chr6:122789049-122809719 +  6q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMPDL3A  -     6q22.31   [Description]    (hg19-Feb_2009)
EnsemblSMPDL3A - 6q22.31 [CytoView hg19]  SMPDL3A - 6q22.31 [CytoView hg38]
Mapping of homologs : NCBISMPDL3A [Mapview hg19]  SMPDL3A [Mapview hg38]
OMIM610728   
Gene and transcription
Genbank (Entrez)AK000184 AK301365 BC018999 BC066591 DA510600
RefSeq transcript (Entrez)NM_001286138 NM_006714
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMPDL3A
Cluster EST : UnigeneHs.486357 [ NCBI ]
CGAP (NCI)Hs.486357
Alternative Splicing GalleryENSG00000172594
Gene ExpressionSMPDL3A [ NCBI-GEO ]   SMPDL3A [ EBI - ARRAY_EXPRESS ]   SMPDL3A [ SEEK ]   SMPDL3A [ MEM ]
Gene Expression Viewer (FireBrowse)SMPDL3A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10924
GTEX Portal (Tissue expression)SMPDL3A
Human Protein AtlasENSG00000172594-SMPDL3A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92484   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92484  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92484
Splice isoforms : SwissVarQ92484
PhosPhoSitePlusQ92484
Domains : Interpro (EBI)ASM-like_Pdiesterase_prd    Calcineurin-like_PHP_ApaH    Metallo-depent_PP-like   
Domain families : Pfam (Sanger)Metallophos (PF00149)   
Domain families : Pfam (NCBI)pfam00149   
Conserved Domain (NCBI)SMPDL3A
DMDM Disease mutations10924
Blocks (Seattle)SMPDL3A
PDB (SRS)5EBB    5EBE   
PDB (PDBSum)5EBB    5EBE   
PDB (IMB)5EBB    5EBE   
PDB (RSDB)5EBB    5EBE   
Structural Biology KnowledgeBase5EBB    5EBE   
SCOP (Structural Classification of Proteins)5EBB    5EBE   
CATH (Classification of proteins structures)5EBB    5EBE   
SuperfamilyQ92484
Human Protein Atlas [tissue]ENSG00000172594-SMPDL3A [tissue]
Peptide AtlasQ92484
HPRD10244
IPIIPI00178767   IPI01011216   
Protein Interaction databases
DIP (DOE-UCLA)Q92484
IntAct (EBI)Q92484
FunCoupENSG00000172594
BioGRIDSMPDL3A
STRING (EMBL)SMPDL3A
ZODIACSMPDL3A
Ontologies - Pathways
QuickGOQ92484
Ontology : AmiGOsphingomyelin phosphodiesterase activity  protein binding  extracellular space  extracellular space  extracellular space  sphingomyelin catabolic process  phosphoric diester hydrolase activity  phosphoric diester hydrolase activity  zinc ion binding  nucleoside triphosphate catabolic process  extracellular exosome  
Ontology : EGO-EBIsphingomyelin phosphodiesterase activity  protein binding  extracellular space  extracellular space  extracellular space  sphingomyelin catabolic process  phosphoric diester hydrolase activity  phosphoric diester hydrolase activity  zinc ion binding  nucleoside triphosphate catabolic process  extracellular exosome  
NDEx NetworkSMPDL3A
Atlas of Cancer Signalling NetworkSMPDL3A
Wikipedia pathwaysSMPDL3A
Orthology - Evolution
OrthoDB10924
GeneTree (enSembl)ENSG00000172594
Phylogenetic Trees/Animal Genes : TreeFamSMPDL3A
HOVERGENQ92484
HOGENOMQ92484
Homologs : HomoloGeneSMPDL3A
Homology/Alignments : Family Browser (UCSC)SMPDL3A
Gene fusions - Rearrangements
Fusion : QuiverSMPDL3A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMPDL3A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMPDL3A
dbVarSMPDL3A
ClinVarSMPDL3A
1000_GenomesSMPDL3A 
Exome Variant ServerSMPDL3A
ExAC (Exome Aggregation Consortium)ENSG00000172594
GNOMAD BrowserENSG00000172594
Varsome BrowserSMPDL3A
Genetic variants : HAPMAP10924
Genomic Variants (DGV)SMPDL3A [DGVbeta]
DECIPHERSMPDL3A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMPDL3A 
Mutations
ICGC Data PortalSMPDL3A 
TCGA Data PortalSMPDL3A 
Broad Tumor PortalSMPDL3A
OASIS PortalSMPDL3A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMPDL3A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMPDL3A
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 SMPDL3A
DgiDB (Drug Gene Interaction Database)SMPDL3A
DoCM (Curated mutations)SMPDL3A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMPDL3A (select a term)
intoGenSMPDL3A
Cancer3DSMPDL3A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610728   
Orphanet
DisGeNETSMPDL3A
MedgenSMPDL3A
Genetic Testing Registry SMPDL3A
NextProtQ92484 [Medical]
TSGene10924
GENETestsSMPDL3A
Target ValidationSMPDL3A
Huge Navigator SMPDL3A [HugePedia]
snp3D : Map Gene to Disease10924
BioCentury BCIQSMPDL3A
ClinGenSMPDL3A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10924
Chemical/Pharm GKB GenePA134932128
Clinical trialSMPDL3A
Miscellaneous
canSAR (ICR)SMPDL3A (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMPDL3A
EVEXSMPDL3A
GoPubMedSMPDL3A
iHOPSMPDL3A
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 6 11:40:40 CET 2018

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