Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NSMAF (neutral sphingomyelinase activation associated factor)

Identity

Alias_namesneutral sphingomyelinase (N-SMase) activation associated factor
Alias_symbol (synonym)FAN
GRAMD5
Other alias
HGNC (Hugo) NSMAF
LocusID (NCBI) 8439
Atlas_Id 55482
Location 8q12.1  [Link to chromosome band 8q12]
Location_base_pair Starts at 58583505 and ends at 58659845 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)
NSMAF (8q12.1) / CLVS1 (8q12.3)NSMAF (8q12.1) / DEPTOR (8q24.12)NSMAF (8q12.1) / LETM2 (8p11.23)
NSMAF (8q12.1) / UQCRH (1p34.1)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(8;8)(p11;q12) NSMAF/LETM2
NSMAF/CLVS1 (8q12)
t(8;8)(q12;q24) NSMAF/DEPTOR

External links

Nomenclature
HGNC (Hugo)NSMAF   8017
Cards
Entrez_Gene (NCBI)NSMAF  8439  neutral sphingomyelinase activation associated factor
AliasesFAN; GRAMD5
GeneCards (Weizmann)NSMAF
Ensembl hg19 (Hinxton)ENSG00000035681 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000035681 [Gene_View]  ENSG00000035681 [Sequence]  chr8:58583505-58659845 [Contig_View]  NSMAF [Vega]
ICGC DataPortalENSG00000035681
TCGA cBioPortalNSMAF
AceView (NCBI)NSMAF
Genatlas (Paris)NSMAF
WikiGenes8439
SOURCE (Princeton)NSMAF
Genetics Home Reference (NIH)NSMAF
Genomic and cartography
GoldenPath hg38 (UCSC)NSMAF  -     chr8:58583505-58659845 -  8q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NSMAF  -     8q12.1   [Description]    (hg19-Feb_2009)
GoldenPathNSMAF - 8q12.1 [CytoView hg19]  NSMAF - 8q12.1 [CytoView hg38]
ImmunoBaseENSG00000035681
Mapping of homologs : NCBINSMAF [Mapview hg19]  NSMAF [Mapview hg38]
OMIM603043   
Gene and transcription
Genbank (Entrez)AK292679 AK294009 AK313991 BC041124 DR005814
RefSeq transcript (Entrez)NM_001144772 NM_003580
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NSMAF
Cluster EST : UnigeneHs.372000 [ NCBI ]
CGAP (NCI)Hs.372000
Alternative Splicing GalleryENSG00000035681
Gene ExpressionNSMAF [ NCBI-GEO ]   NSMAF [ EBI - ARRAY_EXPRESS ]   NSMAF [ SEEK ]   NSMAF [ MEM ]
Gene Expression Viewer (FireBrowse)NSMAF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8439
GTEX Portal (Tissue expression)NSMAF
Human Protein AtlasENSG00000035681-NSMAF [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92636   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92636  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92636
Splice isoforms : SwissVarQ92636
PhosPhoSitePlusQ92636
Domaine pattern : Prosite (Expaxy)BEACH (PS50197)    PH_BEACH (PS51783)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)BEACH_dom    BEACH_dom_sf    GRAM    PH-BEACH_dom    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)Beach (PF02138)    GRAM (PF02893)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam02138    pfam02893    pfam00400   
Domain families : Smart (EMBL)Beach (SM01026)  GRAM (SM00568)  WD40 (SM00320)  
Conserved Domain (NCBI)NSMAF
DMDM Disease mutations8439
Blocks (Seattle)NSMAF
SuperfamilyQ92636
Human Protein Atlas [tissue]ENSG00000035681-NSMAF [tissue]
Peptide AtlasQ92636
HPRD09117
IPIIPI00328260   IPI00921187   IPI00973929   IPI00973782   
Protein Interaction databases
DIP (DOE-UCLA)Q92636
IntAct (EBI)Q92636
FunCoupENSG00000035681
BioGRIDNSMAF
STRING (EMBL)NSMAF
ZODIACNSMAF
Ontologies - Pathways
QuickGOQ92636
Ontology : AmiGOprotein binding  cytoplasm  cytosol  ceramide metabolic process  signal transduction  sphingomyelin phosphodiesterase activator activity  positive regulation of apoptotic process  positive regulation of catalytic activity  positive regulation of ceramide biosynthetic process  
Ontology : EGO-EBIprotein binding  cytoplasm  cytosol  ceramide metabolic process  signal transduction  sphingomyelin phosphodiesterase activator activity  positive regulation of apoptotic process  positive regulation of catalytic activity  positive regulation of ceramide biosynthetic process  
NDEx NetworkNSMAF
Atlas of Cancer Signalling NetworkNSMAF
Wikipedia pathwaysNSMAF
Orthology - Evolution
OrthoDB8439
GeneTree (enSembl)ENSG00000035681
Phylogenetic Trees/Animal Genes : TreeFamNSMAF
HOGENOMQ92636
Homologs : HomoloGeneNSMAF
Homology/Alignments : Family Browser (UCSC)NSMAF
Gene fusions - Rearrangements
Fusion : QuiverNSMAF
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNSMAF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NSMAF
dbVarNSMAF
ClinVarNSMAF
1000_GenomesNSMAF 
Exome Variant ServerNSMAF
ExAC (Exome Aggregation Consortium)ENSG00000035681
GNOMAD BrowserENSG00000035681
Varsome BrowserNSMAF
Genetic variants : HAPMAP8439
Genomic Variants (DGV)NSMAF [DGVbeta]
DECIPHERNSMAF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNSMAF 
Mutations
ICGC Data PortalNSMAF 
TCGA Data PortalNSMAF 
Broad Tumor PortalNSMAF
OASIS PortalNSMAF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNSMAF  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNSMAF
Mutations and Diseases : HGMDNSMAF
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 NSMAF
DgiDB (Drug Gene Interaction Database)NSMAF
DoCM (Curated mutations)NSMAF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NSMAF (select a term)
intoGenNSMAF
Cancer3DNSMAF(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603043   
Orphanet
DisGeNETNSMAF
MedgenNSMAF
Genetic Testing Registry NSMAF
NextProtQ92636 [Medical]
TSGene8439
GENETestsNSMAF
Target ValidationNSMAF
Huge Navigator NSMAF [HugePedia]
snp3D : Map Gene to Disease8439
BioCentury BCIQNSMAF
ClinGenNSMAF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8439
Chemical/Pharm GKB GenePA31795
Clinical trialNSMAF
Miscellaneous
canSAR (ICR)NSMAF (select the gene name)
DataMed IndexNSMAF
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNSMAF
EVEXNSMAF
GoPubMedNSMAF
iHOPNSMAF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed Nov 13 17:58:42 CET 2019
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