ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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 spi1
Name Alias	SPI-1 proto-oncogene, "hematopoietic transcription factor PU.1", "31 kDa transforming protein"
Location	11p12-p11.22
Position	chr11:47376409-47400127, -
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:0000790	nuclear chromatin	Cellular Component	IDA[15304486]	11
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	Biological Process	TAS[10867017]	78
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	Molecular Function		15
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function	IDA[12833137]	132
GO:0002320	lymphoid progenitor cell differentiation	Biological Process		1
GO:0001944	vasculature development	Biological Process		3
GO:0001205	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	Molecular Function		1
GO:0001085	RNA polymerase II transcription factor binding	Molecular Function		10
GO:0001047	core promoter binding	Molecular Function		2
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	Molecular Function		3
GO:0030218	erythrocyte differentiation	Biological Process		4
GO:0030225	macrophage differentiation	Biological Process		2
GO:0030851	granulocyte differentiation	Biological Process		4
GO:0035019	somatic stem cell maintenance	Biological Process		7
GO:0003723	RNA binding	Molecular Function		104
GO:0005515	protein binding	Molecular Function		910
GO:0006917	induction of apoptosis	Biological Process		31
GO:0030098	lymphocyte differentiation	Biological Process		1
GO:0045646	regulation of erythrocyte differentiation	Biological Process	IMP[12833137]	1
GO:0045814	negative regulation of gene expression, epigenetic	Biological Process		2
GO:0045892	negative regulation of transcription, DNA-dependent	Biological Process		64
GO:0045893	positive regulation of transcription, DNA-dependent	Biological Process	IDA[12833137]	80
GO:0043011	myeloid dendritic cell differentiation	Biological Process		2
GO:0043966	histone H3 acetylation	Biological Process		6
GO:0044027	hypermethylation of CpG island	Biological Process		2
GO:0045347	negative regulation of MHC class II biosynthetic process	Biological Process		1
GO:0051525	NFAT protein binding	Molecular Function		1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0090241	negative regulation of histone H4 acetylation	Biological Process		1
GO:0060033	anatomical structure regression	Biological Process		1

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04380	Osteoclast differentiation	25	The osteoclasts, multinucleared cells originating from the h...... The osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways activated by RANK and immune receptors, whose ligands are expressed on the surface of osteoblasts. Signaling from RANK changes gene expression patterns through transcription factors like NFATc1 and characterizes the active osteoclast. More...
hsa05221	Acute myeloid leukemia	10	Acute myeloid leukemia (AML) is a disease that is characteri...... Acute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation program. AML accounts for approximately 80% of all adult leukemias and remains the most common cause of leukemia death. Two major types of genetic events have been described that are crucial for leukemic transformation. A proposed necessary first event is disordered cell growth and upregulation of cell survival genes. The most common of these activating events were observed in the RTK Flt3, in N-Ras and K-Ras, in Kit, and sporadically in other RTKs. Alterations in myeloid transcription factors governing hematopoietic differentiation provide second necessary event for leukemogenesis. Transcription factor fusion proteins such as AML-ETO, PML-RARalpha or PLZF-RARalpha block myeloid cell differentiation by repressing target genes. In other cases, the transcription factors themselves are mutated. More...
hsa05200	Pathways in cancer	52

Genes shared at least 5 GO terms with SPI1 (count: 18)

Gene Symbol	Pathway Count	Pathway List
KDM1A	8	nuclear chromatin; negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; RNA polymerase II transcription factor binding; granulocyte differentiation; protein binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
KLF4	7	nuclear chromatin; negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; RNA polymerase II transcription factor binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
FOXE1	6	negative 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, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
GATA6	6	negative 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; protein binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
HES1	6	negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; somatic stem cell maintenance; protein binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
HNF1B	6	negative 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; protein binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
MYB	6	negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; protein binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
TFAP2A	6	negative regulation of transcription from RNA polymerase II promoter; RNA polymerase II distal enhancer sequence-specific DNA binding; protein binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
RELA	6	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; protein binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
FOXC2	5	negative 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; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
HEY2	5	negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; protein binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
KAT5	5	negative regulation of transcription from RNA polymerase II promoter; protein binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
MED1	5	negative regulation of transcription from RNA polymerase II promoter; core promoter binding; protein binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
MTA2	5	negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; RNA polymerase II transcription factor binding; protein binding; positive regulation of transcription from RNA polymerase II promoter;
RBPJ	5	negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; protein binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
STRN3	5	negative regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; protein binding; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
ETS1	5	sequence-specific DNA binding transcription factor activity; protein binding; induction of apoptosis; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
GSK3B	5	RNA polymerase II transcription factor binding; protein binding; negative regulation of transcription, DNA-dependent; hypermethylation of CpG island; positive regulation of transcription from RNA polymerase II promoter;

Genes shared at least 2 KEGG pathways with SPI1 (count: 11)

Gene Symbol	Pathway Count	Pathway List
MAPK1	3	Osteoclast differentiation; Acute myeloid leukemia; Pathways in cancer;
MAPK3	3	Osteoclast differentiation; Acute myeloid leukemia; Pathways in cancer;
PIK3CG	3	Osteoclast differentiation; Acute myeloid leukemia; Pathways in cancer;
PIK3R1	3	Osteoclast differentiation; Acute myeloid leukemia; Pathways in cancer;
RELA	3	Osteoclast differentiation; Acute myeloid leukemia; Pathways in cancer;
MAPK9	2	Osteoclast differentiation; Pathways in cancer;
PLCG2	2	Osteoclast differentiation; Pathways in cancer;
TGFBR1	2	Osteoclast differentiation; Pathways in cancer;
BAD	2	Acute myeloid leukemia; Pathways in cancer;
CCND1	2	Acute myeloid leukemia; Pathways in cancer;
ZBTB16	2	Acute myeloid leukemia; Pathways in cancer;

View in gBrowse

Region: chr11:47376409..47400127 View in gBrowse