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	PHF5A
Symbol Alias	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7
Approved Name	PHD finger protein 5A
Name Alias	"splicing factor 3b, subunit 7"
Location	22q13.2
Position	chr22:41855721-41864729, -1
External Links	HGNC: 18000 Entrez Gene: 84844 Ensembl: ENSG00000100410 UCSC: uc003bab.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 12)

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

GO terms by database search (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000398	mRNA splicing, via spliceosome	biological process	IDA[12234937]; TAS	58
GO:0016607	nuclear speck	cellular component	ISS	40
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	ISS	148
GO:0016363	nuclear matrix	cellular component	IEA	16
GO:0005689	U12-type spliceosomal complex	cellular component	IDA[15146077]	17
GO:0045893	positive regulation of transcription, DNA-dependent	biological process	ISS	89
GO:0008380	RNA splicing	biological process	TAS	70
GO:0003677	DNA binding	molecular function	IEA	257
GO:0006351	transcription, DNA-dependent	biological process	IEA	281
GO:0010467	gene expression	biological process	TAS	154
GO:0005654	nucleoplasm	cellular component	TAS	210
GO:0005686	U2 snRNP	cellular component	IDA[12234937]	4

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with PHF5A (count: 25)

Gene Symbol	Pathway Count	Pathway List
RNPS1	6	mRNA splicing, via spliceosome; nuclear speck; RNA splicing; transcription, DNA-dependent; gene expression; nucleoplasm;
SNRPB	5	mRNA splicing, via spliceosome; U12-type spliceosomal complex; RNA splicing; gene expression; nucleoplasm;
SNRPD2	5	mRNA splicing, via spliceosome; U12-type spliceosomal complex; RNA splicing; gene expression; nucleoplasm;
SF3A3	5	mRNA splicing, via spliceosome; nuclear speck; RNA splicing; gene expression; nucleoplasm;
PRPF6	5	mRNA splicing, via spliceosome; nuclear speck; RNA splicing; gene expression; nucleoplasm;
SF3B3	5	mRNA splicing, via spliceosome; U12-type spliceosomal complex; RNA splicing; gene expression; nucleoplasm;
SNRPD1	5	mRNA splicing, via spliceosome; U12-type spliceosomal complex; RNA splicing; gene expression; nucleoplasm;
NCBP1	5	mRNA splicing, via spliceosome; RNA splicing; DNA binding; gene expression; nucleoplasm;
SNRPF	5	mRNA splicing, via spliceosome; U12-type spliceosomal complex; RNA splicing; gene expression; nucleoplasm;
EFTUD2	5	mRNA splicing, via spliceosome; nuclear speck; RNA splicing; gene expression; nucleoplasm;
SF3B4	5	mRNA splicing, via spliceosome; U12-type spliceosomal complex; RNA splicing; gene expression; nucleoplasm;
SNRPG	5	mRNA splicing, via spliceosome; U12-type spliceosomal complex; RNA splicing; gene expression; nucleoplasm;
U2AF1	5	mRNA splicing, via spliceosome; nuclear speck; RNA splicing; gene expression; nucleoplasm;
DHX9	5	mRNA splicing, via spliceosome; RNA splicing; DNA binding; gene expression; nucleoplasm;
SNRPA1	5	mRNA splicing, via spliceosome; RNA splicing; gene expression; nucleoplasm; U2 snRNP;
SF3B2	5	mRNA splicing, via spliceosome; U12-type spliceosomal complex; RNA splicing; gene expression; nucleoplasm;
FUS	5	mRNA splicing, via spliceosome; RNA splicing; DNA binding; gene expression; nucleoplasm;
SNRPD3	5	mRNA splicing, via spliceosome; U12-type spliceosomal complex; RNA splicing; gene expression; nucleoplasm;
CD2BP2	5	mRNA splicing, via spliceosome; nuclear speck; RNA splicing; gene expression; nucleoplasm;
SNRPB2	5	mRNA splicing, via spliceosome; RNA splicing; gene expression; nucleoplasm; U2 snRNP;
PRPF4	5	mRNA splicing, via spliceosome; nuclear speck; RNA splicing; gene expression; nucleoplasm;
PRPF8	5	mRNA splicing, via spliceosome; nuclear speck; RNA splicing; gene expression; nucleoplasm;
MYB	5	sequence-specific DNA binding transcription factor activity; nuclear matrix; positive regulation of transcription, DNA-dependent; DNA binding; transcription, DNA-dependent;
HINFP	5	sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; DNA binding; transcription, DNA-dependent; nucleoplasm;
HMGA1	5	sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; DNA binding; transcription, DNA-dependent; nucleoplasm;

Genes shared at least 2 KEGG pathways with PHF5A (count: 0)

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Region: chr22:41855721..41864729 View in gBrowse