AutismKB 2.0

Annotation Details for FBLIM1


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Basic Information Top
Gene Symbol:FBLIM1 ( CAL,DKFZp434G171,FBLP-1,FBLP1 )
Gene Full Name: filamin binding LIM protein 1
Band: 1p36.21
Quick LinksEntrez ID:54751; OMIM: 607747; Uniprot ID:FBLI1_HUMAN; ENSEMBL ID: ENSG00000162458; HGNC ID: 24686
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001650IDA-fibrillar center-
GO:0001725IDA-stress fiber18829455
GO:0005829TAS-cytosol-
GO:0005925IDA-focal adhesion21423176
GO:0005938IEA-cell cortex-
GO:0030054IDA-cell junction-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding19828450
GO:0031005IDA-filamin binding19074766
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0008360IEA-regulation of cell shape-
GO:0016337IMP-single organismal cell-cell adhesion19074766
GO:0033623IMP-regulation of integrin activation19074766
GO:0034329TAS-cell junction assembly-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
FBLIM1FLNA12012812679033 Affinity Capture-Western; Two-hybrid
FBLIM1FLNA10860512679033 Affinity Capture-Western; Two-hybrid
FBLIM1FLNB12012812496242 Affinity Capture-Western; Two-hybrid
FBLIM1FLNB10860612496242 Affinity Capture-Western; Two-hybrid
FBLIM1FERMT212012812679033 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
FBLIM1FERMT211617512679033 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1921452
  • 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