AutismKB 2.0

Annotation Details for NFIB


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Basic Information Top
Gene Symbol:NFIB ( HMGIC/NFIB,NFI-RED,NFIB2,NFIB3 )
Gene Full Name: nuclear factor I/B
Band: 9p23-p22.3
Quick LinksEntrez ID:4781; OMIM: 600728; Uniprot ID:NFIB_HUMAN; ENSEMBL ID: ENSG00000147862; HGNC ID: 7785
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001650IDA-fibrillar center-
GO:0005634IDA-nucleus9099724
GO:0044300ISS-cerebellar mossy fiber-
GO ID Evidence Qualifier GO_term References
GO:0000978IDA-RNA polymerase II core promoter proximal region sequence-specific DNA binding19540848
GO:0000981IDA-RNA polymerase II transcription factor activity, sequence-specific DNA binding9099724
GO:0001077IDA-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding19540848
GO:0003677IDA-DNA binding9099724
GO ID Evidence Qualifier GO_term References
GO:0002062ISS-chondrocyte differentiation-
GO:0006260IEA-DNA replication-
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0010001ISS-glial cell differentiation-
GO:0021740ISS-principal sensory nucleus of trigeminal nerve development-
GO:0021960ISS-anterior commissure morphogenesis-
GO:0030902IEA-hindbrain development-
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter9099724
GO:0060486ISS-Clara cell differentiation-
GO:0060509ISS-Type I pneumocyte differentiation-
GO:0060510ISS-Type II pneumocyte differentiation-
GO:0060662IEA-salivary gland cavitation-
GO:0060689IEA-cell differentiation involved in salivary gland development-
GO:0061141ISS-lung ciliated cell differentiation-
GO:0071679ISS-commissural neuron axon guidance-
GO:1902894IMP-negative regulation of pri-miRNA transcription from RNA polymerase II promoter18384814
GO:2000791ISS-negative regulation of mesenchymal cell proliferation involved in lung development-
GO:2000795ISS-negative regulation of epithelial cell proliferation involved in lung morphogenesis-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NFICNFIB1108539099724 Reconstituted Complex
NFICNFIB1108549099724 Reconstituted Complex
NFIXNFIB1108539099724 Reconstituted Complex
NFIXNFIB1108569099724 Reconstituted Complex
RFX1NFIB11192112624117 Affinity Capture-Western
RFX1NFIB11085312624117 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:103188
  • 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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