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SYNE1 (spectrin repeat containing, nuclear envelope 1)

Identity

Other names8B
ARCA1
C6orf98
CPG2
EDMD4
MYNE1
Nesp1
SCAR8
dJ45H2.2
HGNC (Hugo) SYNE1
LocusID (NCBI) 23345
Atlas_Id 50407
Location 6q25.1
Location_base_pair Starts at 152442819 and ends at 152957986 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARID1B (6q25.3) / SYNE1 (6q25.1)ASCC3 (6q16.3) / SYNE1 (6q25.1)CTSH (15q25.1) / SYNE1 (6q25.1)
KIFC2 (8q24.3) / SYNE1 (6q25.1)PLXDC2 (10p12.31) / SYNE1 (6q25.1)SYNE1 (6q25.1) / AOX2P (2q33.1)
SYNE1 (6q25.1) / CACNA1C (12p13.33)SYNE1 (6q25.1) / CEACAM21 (19q13.2)SYNE1 (6q25.1) / PCBD2 (5q31.1)
SYNE1 (6q25.1) / RGS17 (6q25.2)SYNE1 (6q25.1) / SYNE1 (6q25.1)SYNE1 (6q25.1) / ZBTB4 (17p13.1)
ZBTB2 (6q25.1) / SYNE1 (6q25.1)ARID1B 6q25.3 / SYNE1 6q25.1ASCC3 6q16.3 / SYNE1 6q25.1
PLXDC2 10p12.31 / SYNE1 6q25.1SYNE1 6q25.1 / CACNA1C 12p13.33SYNE1 6q25.1 / RGS17 6q25.2
ZBTB2 6q25.1 / SYNE1 6q25.1

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

 


External links

Nomenclature
HGNC (Hugo)SYNE1   17089
Cards
Entrez_Gene (NCBI)SYNE1  23345  spectrin repeat containing, nuclear envelope 1
Aliases8B; ARCA1; C6orf98; CPG2; 
EDMD4; MYNE1; Nesp1; SCAR8; dJ45H2.2
GeneCards (Weizmann)SYNE1
Ensembl hg19 (Hinxton)ENSG00000131018 [Gene_View]  chr6:152442819-152957986 [Contig_View]  SYNE1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000131018 [Gene_View]  chr6:152442819-152957986 [Contig_View]  SYNE1 [Vega]
ICGC DataPortalENSG00000131018
TCGA cBioPortalSYNE1
AceView (NCBI)SYNE1
Genatlas (Paris)SYNE1
WikiGenes23345
SOURCE (Princeton)SYNE1
Genomic and cartography
GoldenPath hg19 (UCSC)SYNE1  -     chr6:152442819-152957986 -  6q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SYNE1  -     6q25.1   [Description]    (hg38-Dec_2013)
EnsemblSYNE1 - 6q25.1 [CytoView hg19]  SYNE1 - 6q25.1 [CytoView hg38]
Mapping of homologs : NCBISYNE1 [Mapview hg19]  SYNE1 [Mapview hg38]
OMIM608441   610743   612998   
Gene and transcription
Genbank (Entrez)AB018339 AB033088 AB051543 AF043290 AF444779
RefSeq transcript (Entrez)NM_001099267 NM_001134379 NM_015293 NM_033071 NM_133650 NM_182961
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_012855 NT_025741 NW_004929328
Consensus coding sequences : CCDS (NCBI)SYNE1
Cluster EST : UnigeneHs.12967 [ NCBI ]
CGAP (NCI)Hs.12967
Alternative Splicing GalleryENSG00000131018
Gene ExpressionSYNE1 [ NCBI-GEO ]   SYNE1 [ EBI - ARRAY_EXPRESS ]   SYNE1 [ SEEK ]   SYNE1 [ MEM ]
Gene Expression Viewer (FireBrowse)SYNE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23345
GTEX Portal (Tissue expression)SYNE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NF91 (Uniprot)
NextProtQ8NF91  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NF91
Splice isoforms : SwissVarQ8NF91 (Swissvar)
PhosPhoSitePlusQ8NF91
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    KASH (PS51049)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    KASH    Spectrin/alpha-actinin    Spectrin_repeat    SYNE1   
Domain families : Pfam (Sanger)CH (PF00307)    KASH (PF10541)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00307    pfam10541    pfam00435   
Domain families : Smart (EMBL)CH (SM00033)  SPEC (SM00150)  
DMDM Disease mutations23345
Blocks (Seattle)SYNE1
PDB (SRS)4DXR   
PDB (PDBSum)4DXR   
PDB (IMB)4DXR   
PDB (RSDB)4DXR   
Structural Biology KnowledgeBase4DXR   
SCOP (Structural Classification of Proteins)4DXR   
CATH (Classification of proteins structures)4DXR   
SuperfamilyQ8NF91
Human Protein AtlasENSG00000131018
Peptide AtlasQ8NF91
HPRD09762
IPIIPI00386444   IPI00943590   IPI00170463   IPI00247295   IPI00247296   IPI00396977   IPI00940636   IPI00247300   IPI00748856   IPI00647370   IPI01019087   IPI01015487   IPI00917644   IPI01014069   IPI01013675   IPI00642043   IPI01012299   IPI01012718   IPI01009568   
Protein Interaction databases
DIP (DOE-UCLA)Q8NF91
IntAct (EBI)Q8NF91
FunCoupENSG00000131018
BioGRIDSYNE1
STRING (EMBL)SYNE1
ZODIACSYNE1
Ontologies - Pathways
QuickGOQ8NF91
Ontology : AmiGOactin binding  protein binding  lamin binding  nucleus  nuclear envelope  nuclear outer membrane  nucleoplasm  cytoplasm  Golgi apparatus  cytoskeleton  nucleus organization  Golgi organization  integral component of membrane  sarcomere  nuclear membrane  LINC complex  establishment of nucleus localization  muscle cell differentiation  identical protein binding  protein homodimerization activity  poly(A) RNA binding  postsynaptic membrane  actin filament binding  cytoskeletal anchoring at nuclear membrane  nuclear matrix anchoring at nuclear membrane  
Ontology : EGO-EBIactin binding  protein binding  lamin binding  nucleus  nuclear envelope  nuclear outer membrane  nucleoplasm  cytoplasm  Golgi apparatus  cytoskeleton  nucleus organization  Golgi organization  integral component of membrane  sarcomere  nuclear membrane  LINC complex  establishment of nucleus localization  muscle cell differentiation  identical protein binding  protein homodimerization activity  poly(A) RNA binding  postsynaptic membrane  actin filament binding  cytoskeletal anchoring at nuclear membrane  nuclear matrix anchoring at nuclear membrane  
NDEx Network
Atlas of Cancer Signalling NetworkSYNE1
Wikipedia pathwaysSYNE1
Orthology - Evolution
OrthoDB23345
GeneTree (enSembl)ENSG00000131018
Phylogenetic Trees/Animal Genes : TreeFamSYNE1
Homologs : HomoloGeneSYNE1
Homology/Alignments : Family Browser (UCSC)SYNE1
Gene fusions - Rearrangements
Fusion: TCGAARID1B 6q25.3 SYNE1 6q25.1 OV
Fusion: TCGAASCC3 6q16.3 SYNE1 6q25.1 PRAD
Fusion: TCGAPLXDC2 10p12.31 SYNE1 6q25.1 BRCA
Fusion: TCGASYNE1 6q25.1 CACNA1C 12p13.33 BRCA
Fusion: TCGASYNE1 6q25.1 RGS17 6q25.2 BRCA
Fusion: TCGAZBTB2 6q25.1 SYNE1 6q25.1 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerSYNE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SYNE1
dbVarSYNE1
ClinVarSYNE1
1000_GenomesSYNE1 
Exome Variant ServerSYNE1
ExAC (Exome Aggregation Consortium)SYNE1 (select the gene name)
Genetic variants : HAPMAP23345
Genomic Variants (DGV)SYNE1 [DGVbeta]
Mutations
ICGC Data PortalSYNE1 
TCGA Data PortalSYNE1 
Broad Tumor PortalSYNE1
OASIS PortalSYNE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSYNE1 
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 SYNE1
DgiDB (Drug Gene Interaction Database)SYNE1
DoCM (Curated mutations)SYNE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SYNE1 (select a term)
intoGenSYNE1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:152442819-152957986  ENSG00000131018
CONAN: Copy Number AnalysisSYNE1 
Mutations and Diseases : HGMDSYNE1
OMIM608441    610743    612998   
MedgenSYNE1
Genetic Testing Registry SYNE1
NextProtQ8NF91 [Medical]
TSGene23345
GENETestsSYNE1
Huge Navigator SYNE1 [HugePedia]
snp3D : Map Gene to Disease23345
BioCentury BCIQSYNE1
ClinGenSYNE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23345
Chemical/Pharm GKB GenePA134975331
Clinical trialSYNE1
Miscellaneous
canSAR (ICR)SYNE1 (select the gene name)
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSYNE1
EVEXSYNE1
GoPubMedSYNE1
iHOPSYNE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:23:34 CEST 2016

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