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	PRPF6
Previous Symbol	C20orf14
Symbol Alias	TOM, bB152O15.1, ANT-1, U5-102K, Prp6
Approved Name	PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
Previous Name	chromosome 20 open reading frame 14, "PRP6 pre-mRNA processing factor 6 homolog (yeast)"
Location	20q13.33
Position	chr20:62612431-62664453, +
External Links	HGNC: 15860 Entrez Gene: 24148 Ensembl: ENSG00000101161 UCSC: uc002yho.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: 22)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005681	spliceosomal complex	Cellular Component	NAS[10788320]	51
GO:0035257	nuclear hormone receptor binding	Molecular Function		30

GO terms by database search (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000244	assembly of spliceosomal tri-snRNP	Biological Process	IC[10788320]; IMP[15257298]	2
GO:0000245	spliceosomal complex assembly	Biological Process	NAS[10788320]	8
GO:0000375	RNA splicing, via transesterification reactions	Biological Process	NAS[10788320]	11
GO:0005634	nucleus	Cellular Component	IDA[16414017]	770
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005682	U5 snRNP	Cellular Component	IDA[10788320]	5
GO:0000398	mRNA splicing, via spliceosome	Biological Process	IC[15257298]	54
GO:0003713	transcription coactivator activity	Molecular Function	IGI[16414017]	52
GO:0003723	RNA binding	Molecular Function		104
GO:0005515	protein binding	Molecular Function	IPI[15840814]	910
GO:0043021	ribonucleoprotein complex binding	Molecular Function	IDA[10788320]	4
GO:0046540	U4/U6 x U5 tri-snRNP complex	Cellular Component	IDA[10788320]	3
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	IDA[16414017]	131
GO:0008380	RNA splicing	Biological Process	NAS[10788320]	65
GO:0006403	RNA localization	Biological Process		1
GO:0016607	nuclear speck	Cellular Component		34
GO:0010467	gene expression	Biological Process		140
GO:0071001	U4/U6 snRNP	Cellular Component	IDA[10788320]	3
GO:0050681	androgen receptor binding	Molecular Function	IPI[16414017]	10
GO:0071013	catalytic step 2 spliceosome	Cellular Component	IDA[11991638]	31

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 PRPF6 (count: 77)

Gene Symbol	Pathway Count	Pathway List
CD2BP2	11	assembly of spliceosomal tri-snRNP; nucleus; nucleoplasm; U5 snRNP; mRNA splicing, via spliceosome; protein binding; ribonucleoprotein complex binding; U4/U6 x U5 tri-snRNP complex; RNA splicing; nuclear speck; gene expression;
PRPF8	11	RNA splicing, via transesterification reactions; nucleoplasm; spliceosomal complex; U5 snRNP; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; nuclear speck; gene expression; catalytic step 2 spliceosome;
DDX23	10	RNA splicing, via transesterification reactions; nucleus; nucleoplasm; spliceosomal complex; U5 snRNP; mRNA splicing, via spliceosome; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
PRPF4	10	RNA splicing, via transesterification reactions; nucleus; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; protein binding; RNA splicing; nuclear speck; gene expression; U4/U6 snRNP;
SF3A3	10	RNA splicing, via transesterification reactions; nucleus; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; protein binding; RNA splicing; nuclear speck; gene expression; catalytic step 2 spliceosome;
SNW1	10	nucleus; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; transcription coactivator activity; protein binding; nuclear hormone receptor binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; catalytic step 2 spliceosome;
U2AF1	10	nucleus; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; nuclear speck; gene expression; catalytic step 2 spliceosome;
SNRPD1	9	spliceosomal complex assembly; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
SNRPG	9	spliceosomal complex assembly; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
EFTUD2	9	nucleus; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; protein binding; RNA splicing; nuclear speck; gene expression; catalytic step 2 spliceosome;
HNRNPA2B1	9	nucleus; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
SF3A1	9	nucleus; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
SNRNP200	9	nucleus; nucleoplasm; spliceosomal complex; U5 snRNP; mRNA splicing, via spliceosome; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
SNRPD2	8	spliceosomal complex assembly; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
TXNL4A	8	spliceosomal complex assembly; RNA splicing, via transesterification reactions; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; protein binding; RNA splicing; gene expression;
SF3B4	8	RNA splicing, via transesterification reactions; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression;
HNRNPA1	8	nucleus; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
HNRNPH1	8	nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
HNRNPC	8	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
SNRPA1	8	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
SF3B3	7	RNA splicing, via transesterification reactions; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA splicing; gene expression; catalytic step 2 spliceosome;
SMNDC1	7	RNA splicing, via transesterification reactions; nucleus; spliceosomal complex; RNA binding; protein binding; RNA splicing; nuclear speck;
CPSF7	7	nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression;
DHX8	7	nucleus; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; catalytic step 2 spliceosome;
FUS	7	nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression;
MAML1	7	nucleus; nucleoplasm; transcription coactivator activity; protein binding; positive regulation of transcription from RNA polymerase II promoter; nuclear speck; gene expression;
MED1	7	nucleus; nucleoplasm; transcription coactivator activity; protein binding; nuclear hormone receptor binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
NCBP1	7	nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression;
SF3B2	7	nucleus; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA splicing; gene expression; catalytic step 2 spliceosome;
SNRPA	7	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression;
SNRPB	7	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
SNRPB2	7	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
SNRPD3	7	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; protein binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
SNRPF	7	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; RNA splicing; gene expression; catalytic step 2 spliceosome;
U2AF2	7	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression;
PPIH	7	spliceosomal complex; mRNA splicing, via spliceosome; protein binding; ribonucleoprotein complex binding; U4/U6 x U5 tri-snRNP complex; nuclear speck; U4/U6 snRNP;
PRPF19	6	spliceosomal complex assembly; nucleus; mRNA splicing, via spliceosome; protein binding; nuclear speck; catalytic step 2 spliceosome;
SLU7	6	RNA splicing, via transesterification reactions; nucleus; spliceosomal complex; mRNA splicing, via spliceosome; nuclear speck; catalytic step 2 spliceosome;
CWC15	6	nucleus; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; protein binding; catalytic step 2 spliceosome;
DHX9	6	nucleus; nucleoplasm; mRNA splicing, via spliceosome; protein binding; RNA splicing; gene expression;
MAML2	6	nucleus; nucleoplasm; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter; nuclear speck; gene expression;
MED12	6	nucleus; nucleoplasm; transcription coactivator activity; nuclear hormone receptor binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
MED13	6	nucleus; nucleoplasm; transcription coactivator activity; nuclear hormone receptor binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
MED14	6	nucleus; nucleoplasm; transcription coactivator activity; nuclear hormone receptor binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
MED17	6	nucleus; nucleoplasm; transcription coactivator activity; nuclear hormone receptor binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
NCOA6	6	nucleus; nucleoplasm; transcription coactivator activity; protein binding; nuclear hormone receptor binding; positive regulation of transcription from RNA polymerase II promoter;
NR5A1	6	nucleus; nucleoplasm; transcription coactivator activity; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
NRIP1	6	nucleus; transcription coactivator activity; protein binding; nuclear hormone receptor binding; positive regulation of transcription from RNA polymerase II promoter; androgen receptor binding;
POLR2G	6	nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding; RNA splicing; gene expression;
RBM4	6	nucleus; nucleoplasm; RNA binding; protein binding; RNA splicing; nuclear speck;
SMC1A	6	nucleus; nucleoplasm; mRNA splicing, via spliceosome; protein binding; RNA splicing; gene expression;
THRAP3	6	nucleus; transcription coactivator activity; protein binding; nuclear hormone receptor binding; positive regulation of transcription from RNA polymerase II promoter; RNA splicing;
YAP1	6	nucleus; nucleoplasm; transcription coactivator activity; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
CDC40	6	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA splicing; gene expression; catalytic step 2 spliceosome;
CPSF3	6	nucleoplasm; mRNA splicing, via spliceosome; RNA binding; protein binding; RNA splicing; gene expression;
PHF5A	6	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA splicing; nuclear speck; gene expression;
SF3A2	6	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA splicing; gene expression; catalytic step 2 spliceosome;
SF1	5	spliceosomal complex assembly; nucleus; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding;
ZRSR2	5	spliceosomal complex assembly; spliceosomal complex; mRNA splicing, via spliceosome; protein binding; RNA splicing;
ESRRA	5	nucleus; nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
HSPA8	5	nucleus; spliceosomal complex; protein binding; RNA splicing; gene expression;
KAT5	5	nucleus; transcription coactivator activity; protein binding; positive regulation of transcription from RNA polymerase II promoter; androgen receptor binding;
KDM1A	5	nucleus; nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; androgen receptor binding;
MAPK3	5	nucleus; nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
MED16	5	nucleus; nucleoplasm; transcription coactivator activity; nuclear hormone receptor binding; gene expression;
MED30	5	nucleus; nucleoplasm; protein binding; nuclear hormone receptor binding; gene expression;
MED4	5	nucleus; nucleoplasm; protein binding; nuclear hormone receptor binding; gene expression;
MEN1	5	nucleus; nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
NR4A2	5	nucleus; nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
PSMC3	5	nucleus; nucleoplasm; transcription coactivator activity; protein binding; gene expression;
RBPJ	5	nucleus; nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression;
SART1	5	nucleus; nucleoplasm; mRNA splicing, via spliceosome; protein binding; catalytic step 2 spliceosome;
SMARCB1	5	nucleus; nucleoplasm; transcription coactivator activity; protein binding; positive regulation of transcription from RNA polymerase II promoter;
SMARCD3	5	nucleus; nucleoplasm; transcription coactivator activity; protein binding; nuclear hormone receptor binding;
TAF10	5	nucleus; nucleoplasm; transcription coactivator activity; protein binding; gene expression;
RAN	5	nucleoplasm; transcription coactivator activity; protein binding; gene expression; androgen receptor binding;
LSM4	5	spliceosomal complex; RNA binding; protein binding; RNA splicing; gene expression;

Genes shared at least 2 KEGG pathways with PRPF6 (count: 0)

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Region: chr20:62612431..62664453 View in gBrowse