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SYN1 (synapsin I)

Identity

Alias (NCBI)EPILX
MRX50
SYN1a
SYN1b
SYNI
HGNC (Hugo) SYN1
HGNC Alias nameSynapsin-1
HGNC Previous nameMRX50
HGNC Previous namemental retardation, X-linked 50
LocusID (NCBI) 6853
Atlas_Id 51752
Location Xp11.3  [Link to chromosome band Xp11]
Location_base_pair Starts at 47571901 and ends at 47619857 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)
FAM120B (6q27) / SYN1 (Xp11.23)FARP1 (13q32.2) / SYN1 (Xp11.23)SYN1 (Xp11.23) / ADAMTS2 (5q35.3)
SYN1 (Xp11.23) / ALDOC (17q11.2)SYN1 (Xp11.23) / ATAD1 (10q23.31)SYN1 (Xp11.23) / DUSP3 (17q21.31)
SYN1 (Xp11.23) / GAB1 (4q31.21)SYN1 (Xp11.23) / GM2A (5q33.1)SYN1 (Xp11.23) / PDGFRB (5q32)
SYN1 (Xp11.23) / RDH14 (2p24.2)SYN1 (Xp11.23) / SYN1 (Xp11.23)SYN1 Xp11.23 / ATAD1 10q23.31

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)SYN1   11494
Cards
Entrez_Gene (NCBI)SYN1    synapsin I
AliasesEPILX; MRX50; SYN1a; SYN1b; 
SYNI
GeneCards (Weizmann)SYN1
Ensembl hg19 (Hinxton)ENSG00000008056 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000008056 [Gene_View]  ENSG00000008056 [Sequence]  chrX:47571901-47619857 [Contig_View]  SYN1 [Vega]
ICGC DataPortalENSG00000008056
TCGA cBioPortalSYN1
AceView (NCBI)SYN1
Genatlas (Paris)SYN1
SOURCE (Princeton)SYN1
Genetics Home Reference (NIH)SYN1
Genomic and cartography
GoldenPath hg38 (UCSC)SYN1  -     chrX:47571901-47619857 -  Xp11.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SYN1  -     Xp11.3   [Description]    (hg19-Feb_2009)
GoldenPathSYN1 - Xp11.3 [CytoView hg19]  SYN1 - Xp11.3 [CytoView hg38]
ImmunoBaseENSG00000008056
Genome Data Viewer NCBISYN1 [Mapview hg19]  
OMIM300115   300491   313440   
Gene and transcription
Genbank (Entrez)AI929645 AL833961 BC036711 BC048799
RefSeq transcript (Entrez)NM_006950 NM_133499
Consensus coding sequences : CCDS (NCBI)SYN1
Gene ExpressionSYN1 [ NCBI-GEO ]   SYN1 [ EBI - ARRAY_EXPRESS ]   SYN1 [ SEEK ]   SYN1 [ MEM ]
Gene Expression Viewer (FireBrowse)SYN1 [ Firebrowse - Broad ]
GenevisibleExpression of SYN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6853
GTEX Portal (Tissue expression)SYN1
Human Protein AtlasENSG00000008056-SYN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17600   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17600  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17600
PhosPhoSitePlusP17600
Domaine pattern : Prosite (Expaxy)SYNAPSIN_1 (PS00415)    SYNAPSIN_2 (PS00416)   
Domains : Interpro (EBI)ATP_grasp_subdomain_1    PreATP-grasp_dom_sf    SYN1    Synapsin    Synapsin_ATP-bd_dom    Synapsin_CS    Synapsin_P_site    Synapsin_pre-ATP-grasp_dom   
Domain families : Pfam (Sanger)Synapsin (PF02078)    Synapsin_C (PF02750)    Synapsin_N (PF10581)   
Domain families : Pfam (NCBI)pfam02078    pfam02750    pfam10581   
Conserved Domain (NCBI)SYN1
SuperfamilyP17600
AlphaFold pdb e-kbP17600   
Human Protein Atlas [tissue]ENSG00000008056-SYN1 [tissue]
HPRD02433
Protein Interaction databases
DIP (DOE-UCLA)P17600
IntAct (EBI)P17600
BioGRIDSYN1
STRING (EMBL)SYN1
ZODIACSYN1
Ontologies - Pathways
QuickGOP17600
Ontology : AmiGOsynaptonemal complex  actin binding  transporter activity  ATP binding  Golgi apparatus  cytosol  cytoskeleton  chemical synaptic transmission  neurotransmitter secretion  synaptic vesicle  postsynaptic density  protein kinase binding  axon  dendrite  synaptic vesicle membrane  identical protein binding  regulation of neurotransmitter secretion  calcium-dependent protein binding  neuron development  presynaptic active zone  synapse organization  synaptic vesicle clustering  Schaffer collateral - CA1 synapse  regulation of synaptic vesicle cycle  extrinsic component of synaptic vesicle membrane  anchored component of synaptic vesicle membrane  regulation of synaptic vesicle exocytosis  
Ontology : EGO-EBIsynaptonemal complex  actin binding  transporter activity  ATP binding  Golgi apparatus  cytosol  cytoskeleton  chemical synaptic transmission  neurotransmitter secretion  synaptic vesicle  postsynaptic density  protein kinase binding  axon  dendrite  synaptic vesicle membrane  identical protein binding  regulation of neurotransmitter secretion  calcium-dependent protein binding  neuron development  presynaptic active zone  synapse organization  synaptic vesicle clustering  Schaffer collateral - CA1 synapse  regulation of synaptic vesicle cycle  extrinsic component of synaptic vesicle membrane  anchored component of synaptic vesicle membrane  regulation of synaptic vesicle exocytosis  
NDEx NetworkSYN1
Atlas of Cancer Signalling NetworkSYN1
Wikipedia pathwaysSYN1
Orthology - Evolution
OrthoDB6853
GeneTree (enSembl)ENSG00000008056
Phylogenetic Trees/Animal Genes : TreeFamSYN1
Homologs : HomoloGeneSYN1
Homology/Alignments : Family Browser (UCSC)SYN1
Gene fusions - Rearrangements
Fusion : MitelmanSYN1/ATAD1 [Xp11.23/10q23.31]  
Fusion : QuiverSYN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSYN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SYN1
dbVarSYN1
ClinVarSYN1
MonarchSYN1
1000_GenomesSYN1 
Exome Variant ServerSYN1
GNOMAD BrowserENSG00000008056
Varsome BrowserSYN1
ACMGSYN1 variants
VarityP17600
Genomic Variants (DGV)SYN1 [DGVbeta]
DECIPHERSYN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSYN1 
Mutations
ICGC Data PortalSYN1 
TCGA Data PortalSYN1 
Broad Tumor PortalSYN1
OASIS PortalSYN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSYN1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSYN1
Mutations and Diseases : HGMDSYN1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSYN1
DgiDB (Drug Gene Interaction Database)SYN1
DoCM (Curated mutations)SYN1
CIViC (Clinical Interpretations of Variants in Cancer)SYN1
Cancer3DSYN1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300115    300491    313440   
Orphanet11684   
DisGeNETSYN1
MedgenSYN1
Genetic Testing Registry SYN1
NextProtP17600 [Medical]
GENETestsSYN1
Target ValidationSYN1
Huge Navigator SYN1 [HugePedia]
ClinGenSYN1 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeSYN1
Protein Interactions : CTDSYN1
Pharm GKB GenePA36276
PharosP17600
Clinical trialSYN1
Miscellaneous
canSAR (ICR)SYN1
HarmonizomeSYN1
DataMed IndexSYN1
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSYN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:33:59 CEST 2021

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