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RAPSN (receptor associated protein of the synapse)

Identity

Alias_namesreceptor-associated protein of the synapse, 43kD
Alias_symbol (synonym)RNF205
CMS1D
CMS1E
Other aliasCMS11
CMS4C
FADS
RAPSYN
HGNC (Hugo) RAPSN
LocusID (NCBI) 5913
Atlas_Id 72489
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 47437757 and ends at 47449178 bp from pter ( according to hg38-Dec_2013)

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)RAPSN   9863
Cards
Entrez_Gene (NCBI)RAPSN  5913  receptor associated protein of the synapse
AliasesCMS11; CMS4C; FADS; RAPSYN; 
RNF205
GeneCards (Weizmann)RAPSN
Ensembl hg19 (Hinxton)ENSG00000165917 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165917 [Gene_View]  chr11:47437757-47449178 [Contig_View]  RAPSN [Vega]
ICGC DataPortalENSG00000165917
TCGA cBioPortalRAPSN
AceView (NCBI)RAPSN
Genatlas (Paris)RAPSN
WikiGenes5913
SOURCE (Princeton)RAPSN
Genetics Home Reference (NIH)RAPSN
Genomic and cartography
GoldenPath hg38 (UCSC)RAPSN  -     chr11:47437757-47449178 -  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAPSN  -     11p11.2   [Description]    (hg19-Feb_2009)
EnsemblRAPSN - 11p11.2 [CytoView hg19]  RAPSN - 11p11.2 [CytoView hg38]
Mapping of homologs : NCBIRAPSN [Mapview hg19]  RAPSN [Mapview hg38]
OMIM208150   601592   616326   
Gene and transcription
Genbank (Entrez)AF449218 AK310002 BC004196 KU178300 KU178301
RefSeq transcript (Entrez)NM_005055 NM_032645
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RAPSN
Cluster EST : UnigeneHs.81218 [ NCBI ]
CGAP (NCI)Hs.81218
Alternative Splicing GalleryENSG00000165917
Gene ExpressionRAPSN [ NCBI-GEO ]   RAPSN [ EBI - ARRAY_EXPRESS ]   RAPSN [ SEEK ]   RAPSN [ MEM ]
Gene Expression Viewer (FireBrowse)RAPSN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5913
GTEX Portal (Tissue expression)RAPSN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13702   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13702  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13702
Splice isoforms : SwissVarQ13702
PhosPhoSitePlusQ13702
Domaine pattern : Prosite (Expaxy)43_KD_POSTSYNAPTIC (PS00405)    TPR (PS50005)    TPR_REGION (PS50293)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)Postsynaptic    Postsynaptic_CS    Rapsyn_myristoylation/link_N    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)Rapsyn_N (PF10579)    zf-RING_2 (PF13639)   
Domain families : Pfam (NCBI)pfam10579    pfam13639   
Domain families : Smart (EMBL)RING (SM00184)  TPR (SM00028)  
Conserved Domain (NCBI)RAPSN
DMDM Disease mutations5913
Blocks (Seattle)RAPSN
SuperfamilyQ13702
Human Protein AtlasENSG00000165917
Peptide AtlasQ13702
HPRD03353
IPIIPI00828059   IPI00013319   IPI00975811   IPI00976389   
Protein Interaction databases
DIP (DOE-UCLA)Q13702
IntAct (EBI)Q13702
FunCoupENSG00000165917
BioGRIDRAPSN
STRING (EMBL)RAPSN
ZODIACRAPSN
Ontologies - Pathways
QuickGOQ13702
Ontology : AmiGOGolgi apparatus  centrosome  cytosol  plasma membrane  chemical synaptic transmission  synaptic transmission, cholinergic  zinc ion binding  cell junction  neuromuscular junction  acetylcholine receptor binding  ionotropic glutamate receptor binding  protein anchor  positive regulation of neuron apoptotic process  skeletal muscle acetylcholine-gated channel clustering  postsynaptic specialization membrane  positive regulation of neuromuscular synaptic transmission  regulation of postsynaptic membrane organization  
Ontology : EGO-EBIGolgi apparatus  centrosome  cytosol  plasma membrane  chemical synaptic transmission  synaptic transmission, cholinergic  zinc ion binding  cell junction  neuromuscular junction  acetylcholine receptor binding  ionotropic glutamate receptor binding  protein anchor  positive regulation of neuron apoptotic process  skeletal muscle acetylcholine-gated channel clustering  postsynaptic specialization membrane  positive regulation of neuromuscular synaptic transmission  regulation of postsynaptic membrane organization  
Pathways : BIOCARTAAgrin in Postsynaptic Differentiation [Genes]    Role of nicotinic acetylcholine receptors in the regulation of apoptosis [Genes]   
NDEx NetworkRAPSN
Atlas of Cancer Signalling NetworkRAPSN
Wikipedia pathwaysRAPSN
Orthology - Evolution
OrthoDB5913
GeneTree (enSembl)ENSG00000165917
Phylogenetic Trees/Animal Genes : TreeFamRAPSN
HOVERGENQ13702
HOGENOMQ13702
Homologs : HomoloGeneRAPSN
Homology/Alignments : Family Browser (UCSC)RAPSN
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAPSN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAPSN
dbVarRAPSN
ClinVarRAPSN
1000_GenomesRAPSN 
Exome Variant ServerRAPSN
ExAC (Exome Aggregation Consortium)RAPSN (select the gene name)
Genetic variants : HAPMAP5913
Genomic Variants (DGV)RAPSN [DGVbeta]
DECIPHERRAPSN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRAPSN 
Mutations
ICGC Data PortalRAPSN 
TCGA Data PortalRAPSN 
Broad Tumor PortalRAPSN
OASIS PortalRAPSN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAPSN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRAPSN
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RAPSN
DgiDB (Drug Gene Interaction Database)RAPSN
DoCM (Curated mutations)RAPSN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAPSN (select a term)
intoGenRAPSN
Cancer3DRAPSN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM208150    601592    616326   
Orphanet1310    10308    13930   
MedgenRAPSN
Genetic Testing Registry RAPSN
NextProtQ13702 [Medical]
TSGene5913
GENETestsRAPSN
Target ValidationRAPSN
Huge Navigator RAPSN [HugePedia]
snp3D : Map Gene to Disease5913
BioCentury BCIQRAPSN
ClinGenRAPSN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5913
Chemical/Pharm GKB GenePA34224
Clinical trialRAPSN
Miscellaneous
canSAR (ICR)RAPSN (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAPSN
EVEXRAPSN
GoPubMedRAPSN
iHOPRAPSN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:35:51 CEST 2017

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