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	RRP8
Previous Symbol	KIAA0409
Approved Name	ribosomal RNA processing 8, methyltransferase, homolog (yeast)
Previous Name	"KIAA0409"
Name Alias	RRP8 methyltransferase homolog (S. cerevisiae)
Location	11p15.4
Position	chr11:6616305-6624850, -1
External Links	HGNC: 29030 Entrez Gene: 23378 Ensembl: ENSG00000132275 UCSC: uc001med.3
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: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_29	chr11:5582423-7488751 (NCBI Build 36.1 (hg18))	1859865	11p15.4	Loss	De novo

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 17)

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

GO terms by database search (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0035064	methylated histone residue binding	molecular function	IDA[18485871]	8
GO:0046015	regulation of transcription by glucose	biological process	IMP	1
GO:0071158	positive regulation of cell cycle arrest	biological process	IMP	4
GO:0005634	nucleus	cellular component	IDA	877
GO:0005737	cytoplasm	cellular component	IDA	781
GO:0006351	transcription, DNA-dependent	biological process	IEA	281
GO:0033553	rDNA heterochromatin	cellular component	IDA[18485871]	1
GO:0016568	chromatin modification	biological process	IEA	19
GO:0005677	chromatin silencing complex	cellular component	IDA[18485871]	1
GO:0005886	plasma membrane	cellular component	IDA	839
GO:0006364	rRNA processing	biological process	IEA	7
GO:0000183	chromatin silencing at rDNA	biological process	IDA[18485871]	1
GO:0005730	nucleolus	cellular component	IDA	271
GO:0042149	cellular response to glucose starvation	biological process	IMP	4
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	biological process	IMP	4
GO:0005515	protein binding	molecular function	IPI[18485871]	1015
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	molecular function	TAS[18485871]	1

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with RRP8 (count: 31)

Gene Symbol	Pathway Count	Pathway List
MPHOSPH8	6	methylated histone residue binding; nucleus; cytoplasm; transcription, DNA-dependent; plasma membrane; nucleolus;
SAP18	6	nucleus; cytoplasm; transcription, DNA-dependent; plasma membrane; nucleolus; protein binding;
PHF2	5	methylated histone residue binding; nucleus; transcription, DNA-dependent; nucleolus; protein binding;
ID2	5	positive regulation of cell cycle arrest; nucleus; cytoplasm; nucleolus; protein binding;
GSK3B	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;
MALT1	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;
PSPC1	5	nucleus; cytoplasm; transcription, DNA-dependent; nucleolus; protein binding;
XRCC5	5	nucleus; cytoplasm; transcription, DNA-dependent; nucleolus; protein binding;
PRC1	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;
CHD1L	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;
HSPA8	5	nucleus; transcription, DNA-dependent; plasma membrane; nucleolus; protein binding;
FLII	5	nucleus; cytoplasm; transcription, DNA-dependent; nucleolus; protein binding;
CDCA5	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;
NOL8	5	nucleus; cytoplasm; rRNA processing; nucleolus; protein binding;
NF2	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;
MEN1	5	nucleus; cytoplasm; transcription, DNA-dependent; nucleolus; protein binding;
POU2F3	5	nucleus; cytoplasm; transcription, DNA-dependent; nucleolus; protein binding;
CTNND1	5	nucleus; cytoplasm; transcription, DNA-dependent; plasma membrane; protein binding;
APBB1	5	nucleus; cytoplasm; transcription, DNA-dependent; plasma membrane; protein binding;
TCF25	5	nucleus; cytoplasm; transcription, DNA-dependent; nucleolus; protein binding;
STXBP3	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;
DAXX	5	nucleus; cytoplasm; transcription, DNA-dependent; nucleolus; protein binding;
MAPK1	5	nucleus; cytoplasm; transcription, DNA-dependent; nucleolus; protein binding;
LPXN	5	nucleus; cytoplasm; transcription, DNA-dependent; plasma membrane; protein binding;
BCLAF1	5	nucleus; cytoplasm; transcription, DNA-dependent; nucleolus; protein binding;
ATXN1	5	nucleus; cytoplasm; transcription, DNA-dependent; nucleolus; protein binding;
AIP	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;
RNF40	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;
PNN	5	nucleus; cytoplasm; transcription, DNA-dependent; plasma membrane; nucleolus;
BAIAP2	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;
COG3	5	nucleus; cytoplasm; plasma membrane; nucleolus; protein binding;

Genes shared at least 2 KEGG pathways with RRP8 (count: 0)

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Region: chr11:6616305..6624850 View in gBrowse