AutismKB 2.0

Annotation Details for SYNE1


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Basic Information Top
Gene Symbol:SYNE1 ( 8B,ARCA1,C6orf98,CPG2,DKFZp781J13156,EDMD4,FLJ30878,FLJ41140,KIAA0796,KIAA1262,KIAA1756,MYNE1,SCAR8,dJ45H2.2 )
Gene Full Name: spectrin repeat containing, nuclear envelope 1
Band: 6q25.2
Quick LinksEntrez ID:23345; OMIM: 608441; Uniprot ID:SYNE1_HUMAN; ENSEMBL ID: ENSG00000131018; HGNC ID: 17089
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000932IDA-P-body24862572
GO:0005634IDA-nucleus21630459
GO:0005635IDA-nuclear envelope11792814
GO:0005640IEA-nuclear outer membrane-
GO:0005654IDA-nucleoplasm-
GO:0005730IDA-nucleolus24862572
GO:0005737IDA-cytoplasm11792814
GO:0005794IDA-Golgi apparatus12808039
GO:0005856IEA-cytoskeleton-
GO:0016021IDA-integral component of membrane11792814
GO:0030017IDA-sarcomere12408964
GO:0031965IDA-nuclear membrane-
GO:0034993IDA-LINC complex18396275
GO:0045211IDA-postsynaptic membrane10878022
GO ID Evidence Qualifier GO_term References
GO:0003723IDA-RNA binding22658674
GO:0003779IDA-actin binding12408964
GO:0005515IPI-protein binding12812986
GO:0005521IPI-lamin binding11801724
GO:0019899IPI-enzyme binding24862572
GO:0042803ISS-protein homodimerization activity-
GO:0051015ISS-actin filament binding-
GO ID Evidence Qualifier GO_term References
GO:0006997NAS-nucleus organization11792814
GO:0007030IDA-Golgi organization12808039
GO:0007283IEA-spermatogenesis-
GO:0042692IDA-muscle cell differentiation11792814
GO:0090286IDA-cytoskeletal anchoring at nuclear membrane18396275
GO:0090292IDA-nuclear matrix anchoring at nuclear membrane11801724
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SYNE1APC11692820936779 Two-hybrid
SYNE1APC10682120936779 Two-hybrid
SYNE1CDC4211692820936779 Two-hybrid
SYNE1CDC4210743320936779 Two-hybrid
SYNE1EMD11692812163176 Reconstituted Complex
SYNE1EMD10832512163176 Reconstituted Complex
SYNE1LMNA11692811801724 12163176 Affinity Capture-Western; Reconstituted Complex
SYNE1LMNA11018611801724 12163176 Affinity Capture-Western; Reconstituted Complex
SYNE1MUSK11692810878022 Affinity Capture-Western; Two-hybrid
SYNE1MUSK11067910878022 Affinity Capture-Western; Two-hybrid
SYNE1SYNE111692812163176 Reconstituted Complex; Two-hybrid
DISC1SYNE111692812812986 Affinity Capture-Western; Two-hybrid
DISC1SYNE111806112812986 Affinity Capture-Western; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1927152
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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