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	SETD1A
Symbol Alias	KIAA0339, Set1, KMT2F
Approved Name	SET domain containing 1A
Location	16p11.2
Position	chr16:30968615-30995985, +
External Links	HGNC: 29010 Entrez Gene: 9739 Ensembl: ENSG00000099381 UCSC: uc002ead.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_34	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813248	16p11.2	Loss	De novo
CNV_Williams[2010]_39	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813247	16p11.2	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 13)

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

GO terms by database search (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000166	nucleotide binding	Molecular Function		73
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0005730	nucleolus	Cellular Component		243
GO:0016607	nuclear speck	Cellular Component		34
GO:0006355	regulation of transcription, DNA-dependent	Biological Process		158
GO:0005515	protein binding	Molecular Function	IPI[12670868]	910
GO:0003723	RNA binding	Molecular Function		104
GO:0005694	chromosome	Cellular Component		15
GO:0005634	nucleus	Cellular Component		770
GO:0042800	histone methyltransferase activity (H3-K4 specific)	Molecular Function		2
GO:0035097	histone methyltransferase complex	Cellular Component	IDA[17500065]	4
GO:0051568	histone H3-K4 methylation	Biological Process		2
GO:0048188	Set1C/COMPASS complex	Cellular Component	IDA[17998332]	1

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00310	Lysine degradation	9

Genes shared at least 5 GO terms with SETD1A (count: 23)

Gene Symbol	Pathway Count	Pathway List
PSPC1	8	nucleotide binding; transcription, DNA-dependent; nucleolus; nuclear speck; regulation of transcription, DNA-dependent; protein binding; RNA binding; nucleus;
RBM4	6	nucleotide binding; nucleolus; nuclear speck; protein binding; RNA binding; nucleus;
U2AF1	6	nucleotide binding; nucleolus; nuclear speck; protein binding; RNA binding; nucleus;
FUS	5	nucleotide binding; nucleolus; protein binding; RNA binding; nucleus;
HNRNPA2B1	5	nucleotide binding; nucleolus; protein binding; RNA binding; nucleus;
HNRNPH1	5	nucleotide binding; nucleolus; protein binding; RNA binding; nucleus;
NOL8	5	nucleotide binding; nucleolus; protein binding; RNA binding; nucleus;
RBM14	5	nucleotide binding; nucleolus; protein binding; RNA binding; nucleus;
TARDBP	5	nucleotide binding; nucleolus; protein binding; RNA binding; nucleus;
APBB1	5	transcription, DNA-dependent; nuclear speck; regulation of transcription, DNA-dependent; protein binding; nucleus;
CNOT6	5	transcription, DNA-dependent; regulation of transcription, DNA-dependent; protein binding; RNA binding; nucleus;
DAXX	5	transcription, DNA-dependent; nucleolus; regulation of transcription, DNA-dependent; protein binding; nucleus;
DDX54	5	transcription, DNA-dependent; nucleolus; regulation of transcription, DNA-dependent; RNA binding; nucleus;
FLII	5	transcription, DNA-dependent; nucleolus; regulation of transcription, DNA-dependent; protein binding; nucleus;
HINFP	5	transcription, DNA-dependent; nucleolus; regulation of transcription, DNA-dependent; protein binding; nucleus;
IGHMBP2	5	transcription, DNA-dependent; regulation of transcription, DNA-dependent; protein binding; RNA binding; nucleus;
INO80E	5	transcription, DNA-dependent; nucleolus; regulation of transcription, DNA-dependent; protein binding; nucleus;
MEN1	5	transcription, DNA-dependent; nucleolus; protein binding; nucleus; histone methyltransferase complex;
SF1	5	transcription, DNA-dependent; nucleolus; regulation of transcription, DNA-dependent; RNA binding; nucleus;
ZNF74	5	transcription, DNA-dependent; nucleolus; regulation of transcription, DNA-dependent; RNA binding; nucleus;
SSRP1	5	nucleolus; regulation of transcription, DNA-dependent; protein binding; chromosome; nucleus;
ZFR	5	nucleolus; protein binding; RNA binding; chromosome; nucleus;
MLL	5	protein binding; nucleus; histone methyltransferase activity (H3-K4 specific); histone methyltransferase complex; histone H3-K4 methylation;

Genes shared at least 2 KEGG pathways with SETD1A (count: 0)

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Region: chr16:30968615..30995985 View in gBrowse