Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SPNS1 (sphingolipid transporter 1 (putative))

Identity

Alias_namesspinster homolog 1 (Drosophila)
Alias_symbol (synonym)HSpin1
nrs
SPINL
PP2030
SPIN1
LAT
Other alias
HGNC (Hugo) SPNS1
LocusID (NCBI) 83985
Atlas_Id 74191
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 28974775 and ends at 28984548 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)
BFAR (16p13.12) / SPNS1 (16p11.2)NFATC2IP (16p11.2) / SPNS1 (16p11.2)SPNS1 (16p11.2) / PRKCB (16p12.2)
SPNS1 (16p11.2) / ZNF668 (16p11.2)SPNS1 ZNF668SPNS1 PRKCB

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)SPNS1   30621
Cards
Entrez_Gene (NCBI)SPNS1  83985  sphingolipid transporter 1 (putative)
AliasesHSpin1; LAT; PP2030; SPIN1; 
SPINL; nrs
GeneCards (Weizmann)SPNS1
Ensembl hg19 (Hinxton)ENSG00000169682 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169682 [Gene_View]  chr16:28974775-28984548 [Contig_View]  SPNS1 [Vega]
ICGC DataPortalENSG00000169682
TCGA cBioPortalSPNS1
AceView (NCBI)SPNS1
Genatlas (Paris)SPNS1
WikiGenes83985
SOURCE (Princeton)SPNS1
Genetics Home Reference (NIH)SPNS1
Genomic and cartography
GoldenPath hg38 (UCSC)SPNS1  -     chr16:28974775-28984548 +  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPNS1  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblSPNS1 - 16p11.2 [CytoView hg19]  SPNS1 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBISPNS1 [Mapview hg19]  SPNS1 [Mapview hg38]
OMIM612583   
Gene and transcription
Genbank (Entrez)AF212371 AF370423 AK095677 AK289787 AL390215
RefSeq transcript (Entrez)NM_001142448 NM_001142449 NM_001142450 NM_001142451 NM_032038
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPNS1
Cluster EST : UnigeneHs.617449 [ NCBI ]
CGAP (NCI)Hs.617449
Alternative Splicing GalleryENSG00000169682
Gene ExpressionSPNS1 [ NCBI-GEO ]   SPNS1 [ EBI - ARRAY_EXPRESS ]   SPNS1 [ SEEK ]   SPNS1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPNS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83985
GTEX Portal (Tissue expression)SPNS1
Human Protein AtlasENSG00000169682-SPNS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2V7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2V7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2V7
Splice isoforms : SwissVarQ9H2V7
PhosPhoSitePlusQ9H2V7
Domaine pattern : Prosite (Expaxy)MFS (PS50850)   
Domains : Interpro (EBI)MFS    MFS_dom   
Domain families : Pfam (Sanger)MFS_1 (PF07690)   
Domain families : Pfam (NCBI)pfam07690   
Conserved Domain (NCBI)SPNS1
DMDM Disease mutations83985
Blocks (Seattle)SPNS1
SuperfamilyQ9H2V7
Human Protein Atlas [tissue]ENSG00000169682-SPNS1 [tissue]
Peptide AtlasQ9H2V7
HPRD11599
IPIIPI00645679   IPI00384364   IPI00152429   IPI00640928   IPI00921141   IPI00556181 &njs0; 
Protein Interaction databases
DIP (DOE-UCLA)Q9H2V7
IntAct (EBI)Q9H2V7
FunCoupENSG00000169682
BioGRIDSPNS1
STRING (EMBL)SPNS1
ZODIACSPNS1
Ontologies - Pathways
QuickGOQ9H2V7
Ontology : AmiGOsphingosine-1-phosphate signaling pathway  protein binding  mitochondrial inner membrane  lysosomal membrane  lipid transport  integral component of membrane  vesicle  locomotion  sphingolipid transporter activity  transmembrane transport  
Ontology : EGO-EBIsphingosine-1-phosphate signaling pathway  protein binding  mitochondrial inner membrane  lysosomal membrane  lipid transport  integral component of membrane  vesicle  locomotion  sphingolipid transporter activity  transmembrane transport  
NDEx NetworkSPNS1
Atlas of Cancer Signalling NetworkSPNS1
Wikipedia pathwaysSPNS1
Orthology - Evolution
OrthoDB83985
GeneTree (enSembl)ENSG00000169682
Phylogenetic Trees/Animal Genes : TreeFamSPNS1
HOVERGENQ9H2V7
HOGENOMQ9H2V7
Homologs : HomoloGeneSPNS1
Homology/Alignments : Family Browser (UCSC)SPNS1
Gene fusions - Rearrangements
Fusion: TCGASPNS1 ZNF668
Fusion: TCGASPNS1 PRKCB
Fusion: Tumor Portal SPNS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPNS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPNS1
dbVarSPNS1
ClinVarSPNS1
1000_GenomesSPNS1 
Exome Variant ServerSPNS1
ExAC (Exome Aggregation Consortium)ENSG00000169682
GNOMAD BrowserENSG00000169682
Genetic variants : HAPMAP83985
Genomic Variants (DGV)SPNS1 [DGVbeta]
DECIPHERSPNS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPNS1 
Mutations
ICGC Data PortalSPNS1 
TCGA Data PortalSPNS1 
Broad Tumor PortalSPNS1
OASIS PortalSPNS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPNS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPNS1
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 SPNS1
DgiDB (Drug Gene Interaction Database)SPNS1
DoCM (Curated mutations)SPNS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPNS1 (select a term)
intoGenSPNS1
Cancer3DSPNS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612583   
Orphanet
MedgenSPNS1
Genetic Testing Registry SPNS1
NextProtQ9H2V7 [Medical]
TSGene83985
GENETestsSPNS1
Target ValidationSPNS1
Huge Navigator SPNS1 [HugePedia]
snp3D : Map Gene to Disease83985
BioCentury BCIQSPNS1
ClinGenSPNS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83985
Chemical/Pharm GKB GenePA162404561
Clinical trialSPNS1
Miscellaneous
canSAR (ICR)SPNS1 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPNS1
EVEXSPNS1
GoPubMedSPNS1
iHOPSPNS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:30:52 CET 2017

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