Gene Report

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Basic Info

Approved Symbol	NFIA
Symbol Alias	NFI-L, KIAA1439
Approved Name	nuclear factor I/A
Location	1p31.3-p31.2
Position	chr1:60865259-61462793, 1
External Links	HGNC: 7784 Entrez Gene: 4774 Ensembl: ENSG00000162599 UCSC: uc010oos.2
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Smith, E. N.,2011	SNP: rs2989476	No significant association of this gene was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[15684392]; NAS[7590749]	283
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	NAS[7590749]	66

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0030054	cell junction	cellular component	IDA	88
GO:0019079	viral genome replication	biological process	NAS[7590749]	3
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	molecular function	IDA[17010934]	23
GO:0008134	transcription factor binding	molecular function	IPI[15684392]	28
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[17010934]	91
GO:0006355	regulation of transcription, DNA-templated	biological process	NAS[7590749]	62
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IBA	62
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0014070	response to organic cyclic compound	biological process	IEA	4
GO:0006260	DNA replication	biological process	IEA	7
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IDA[17010934]	18

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NFIA	CREBBP	YES	in vitro	10085123

Related other genetic factors

Gene related SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7553582	chr1:61358703 - 61358703(1)	intron_variant; non_coding_transcript_variant	1(0/0/1)
rs41350144	chr1:61350127 - 61350127(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)
rs7556462	chr1:61356147 - 61356147(1)	intron_variant; non_coding_transcript_variant	1(0/0/1)
rs2989476	chr1:60593587 - 60593587(1)	intron_variant; non_coding_transcript_variant	3(0/2/1)
rs2024789	chr1:61351329 - 61351329(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)
rs1125777	chr1:61366218 - 61366218(1)	intron_variant; non_coding_transcript_variant	1(0/0/1)
rs4915737	chr1:61356611 - 61356611(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr1:60865259..61462793 View in gBrowse