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
Approved Name	PHD finger protein 5A
Location	22q13.2
Position	chr22:41855721-41864729, -
External Links	HGNC: 18000 Entrez Gene: 84844 Ensembl: ENSG00000100410 UCSC: uc003bab.2
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: 13)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005681	spliceosomal complex	Cellular Component		51

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]	54
GO:0003677	DNA binding	Molecular Function		220
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function		132
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005686	U2 snRNP	Cellular Component	IDA[12234937]	4
GO:0005689	U12-type spliceosomal complex	Cellular Component	IDA[15146077]	16
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0008380	RNA splicing	Biological Process		65
GO:0010467	gene expression	Biological Process		140
GO:0016363	nuclear matrix	Cellular Component		16
GO:0016607	nuclear speck	Cellular Component		34
GO:0045893	positive regulation of transcription, DNA-dependent	Biological Process		80

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa03040	Spliceosome	47	After transcription, eukaryotic mRNA precursors contain prot...... After transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, the spliceosome. The standard spliceosome is made up of five small nuclear ribonucleoproteins (snRNPs), U1, U2, U4, U5, and U6 snRNPs, and several spliceosome-associated proteins (SAPs). Spliceosomes are not a simple stable complex, but a dynamic family of particles that assemble on the mRNA precursor and help fold it into a conformation that allows transesterification to proceed. Various spliceosome forms (e.g. A-, B- and C-complexes) have been identified. More...

Genes shared at least 5 GO terms with PHF5A (count: 37)

Gene Symbol	Pathway Count	Pathway List
EFTUD2	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression; nuclear speck;
PRPF4	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression; nuclear speck;
PRPF6	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression; nuclear speck;
PRPF8	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression; nuclear speck;
SF3A3	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression; nuclear speck;
SF3B2	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; U12-type spliceosomal complex; RNA splicing; gene expression;
SF3B3	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; U12-type spliceosomal complex; RNA splicing; gene expression;
SF3B4	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; U12-type spliceosomal complex; RNA splicing; gene expression;
SNRPA1	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; U2 snRNP; RNA splicing; gene expression;
SNRPB	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; U12-type spliceosomal complex; RNA splicing; gene expression;
SNRPB2	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; U2 snRNP; RNA splicing; gene expression;
SNRPD2	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; U12-type spliceosomal complex; RNA splicing; gene expression;
SNRPD3	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; U12-type spliceosomal complex; RNA splicing; gene expression;
SNRPF	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; U12-type spliceosomal complex; RNA splicing; gene expression;
SNRPG	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; U12-type spliceosomal complex; RNA splicing; gene expression;
U2AF1	6	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression; nuclear speck;
CD2BP2	5	mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; gene expression; nuclear speck;
CDC40	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
DDX23	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
DHX9	5	mRNA splicing, via spliceosome; DNA binding; nucleoplasm; RNA splicing; gene expression;
FUS	5	mRNA splicing, via spliceosome; DNA binding; nucleoplasm; RNA splicing; gene expression;
HNRNPA1	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
HNRNPA2B1	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
HNRNPC	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
NCBP1	5	mRNA splicing, via spliceosome; DNA binding; nucleoplasm; RNA splicing; gene expression;
SF3A1	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
SF3A2	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
SNRNP200	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
SNRPA	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
SNRPD1	5	mRNA splicing, via spliceosome; nucleoplasm; U12-type spliceosomal complex; RNA splicing; gene expression;
SNW1	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; gene expression; nuclear matrix;
TXNL4A	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
U2AF2	5	mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex; RNA splicing; gene expression;
E2F5	5	DNA binding; sequence-specific DNA binding transcription factor activity; nucleoplasm; transcription, DNA-dependent; gene expression;
HINFP	5	DNA binding; sequence-specific DNA binding transcription factor activity; nucleoplasm; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent;
HMGA1	5	DNA binding; sequence-specific DNA binding transcription factor activity; nucleoplasm; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent;
MYB	5	DNA binding; sequence-specific DNA binding transcription factor activity; transcription, DNA-dependent; nuclear matrix; positive regulation of transcription, DNA-dependent;

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

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Region: chr22:41855721..41864729 View in gBrowse