ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	SPI1
Symbol Alias	PU.1, SPI-A, OF, SFPI1, SPI-1
Approved Name	spleen focus forming virus (SFFV) proviral integration oncogene
Name Alias	"SPI-1 proto-oncogene", "hematopoietic transcription factor PU.1", "31 kDa transforming protein"
Location	11p12-p11.22
Position	chr11:47376411-47400127, -1
External Links	HGNC: 11241 Entrez Gene: 6688 Ensembl: ENSG00000066336 UCSC: uc001nfb.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 0)

LD-proxies (count: 2)

rs_ID	Location	Functional Annotation
rs4752829	chr11:47396654(Fwd)	intron_variant
rs11828339	chr11:47404314(Fwd)	downstream_gene_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 30)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0090241	negative regulation of histone H4 acetylation	biological process	IMP	1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	ISS	141
GO:0051525	NFAT protein binding	molecular function	ISS	1
GO:0001085	RNA polymerase II transcription factor binding	molecular function	ISS	11
GO:0005515	protein binding	molecular function	IPI	1015
GO:0002320	lymphoid progenitor cell differentiation	biological process	IEA	1
GO:0060033	anatomical structure regression	biological process	IEA	1
GO:0035019	somatic stem cell maintenance	biological process	IEA	7
GO:0045892	negative regulation of transcription, DNA-dependent	biological process	IDA	77
GO:0001047	core promoter binding	molecular function	IDA	2
GO:0030225	macrophage differentiation	biological process	IEA	2
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	molecular function	ISS	17
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[12833137]	148
GO:0006917	induction of apoptosis	biological process	IEA	35
GO:0030098	lymphocyte differentiation	biological process	IEA	1
GO:0030218	erythrocyte differentiation	biological process	IEA	4
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	molecular function	ISS	2
GO:0030851	granulocyte differentiation	biological process	IEA	4
GO:0001205	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IEA	1
GO:0045347	negative regulation of MHC class II biosynthetic process	biological process	IEA	1
GO:0043011	myeloid dendritic cell differentiation	biological process	IEA	2
GO:0045646	regulation of erythrocyte differentiation	biological process	IMP[12833137]	1
GO:0001944	vasculature development	biological process	IEA	4
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	TAS[10867017]	90
GO:0044027	hypermethylation of CpG island	biological process	IDA	2
GO:0000790	nuclear chromatin	cellular component	IDA[15304486]	12
GO:0045814	negative regulation of gene expression, epigenetic	biological process	IDA	2
GO:0003723	RNA binding	molecular function	IEA	115
GO:0043966	histone H3 acetylation	biological process	IMP	6
GO:0045893	positive regulation of transcription, DNA-dependent	biological process	IDA[12833137]	89

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05221	Acute myeloid leukemia	10

Genes shared at least 5 GO terms with SPI1 (count: 20)

Gene Symbol	Pathway Count	Pathway List
KDM1A	8	positive regulation of transcription from RNA polymerase II promoter; RNA polymerase II transcription factor binding; protein binding; negative regulation of transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; granulocyte differentiation; negative regulation of transcription from RNA polymerase II promoter; nuclear chromatin;
KLF4	7	positive regulation of transcription from RNA polymerase II promoter; RNA polymerase II transcription factor binding; negative regulation of transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; nuclear chromatin; positive regulation of transcription, DNA-dependent;
GATA6	6	positive regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of transcription, DNA-dependent; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter;
RELA	6	positive regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of transcription, DNA-dependent; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent;
FOXE1	6	positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent;
HNF1B	6	positive regulation of transcription from RNA polymerase II promoter; protein binding; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent;
TFAP2B	6	positive regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent;
MYB	6	positive regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent;
HES1	6	positive regulation of transcription from RNA polymerase II promoter; protein binding; somatic stem cell maintenance; negative regulation of transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter;
CREBBP	6	RNA polymerase II transcription factor binding; protein binding; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; nuclear chromatin; positive regulation of transcription, DNA-dependent;
ETS1	5	positive regulation of transcription from RNA polymerase II promoter; protein binding; sequence-specific DNA binding transcription factor activity; induction of apoptosis; positive regulation of transcription, DNA-dependent;
KAT5	5	positive regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent;
RBPJ	5	positive regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter;
STRN3	5	positive regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter;
GSK3B	5	positive regulation of transcription from RNA polymerase II promoter; RNA polymerase II transcription factor binding; protein binding; negative regulation of transcription, DNA-dependent; hypermethylation of CpG island;
HEY2	5	positive regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter;
MED1	5	positive regulation of transcription from RNA polymerase II promoter; protein binding; core promoter binding; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent;
CIITA	5	positive regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent;
FOXC2	5	positive regulation of transcription from RNA polymerase II promoter; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent;
MTA2	5	positive regulation of transcription from RNA polymerase II promoter; RNA polymerase II transcription factor binding; protein binding; sequence-specific DNA binding transcription factor activity; negative regulation of transcription from RNA polymerase II promoter;

Genes shared at least 2 KEGG pathways with SPI1 (count: 0)

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Region: chr11:47376411..47400127 View in gBrowse