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	RBBP8
Previous Symbol	SCKL2
Symbol Alias	CtIP, RIM, COM1
Approved Name	retinoblastoma binding protein 8
Previous Name	"retinoblastoma-binding protein 8", "Seckel syndrome 2"
Name Alias	"CTBP-interacting protein"
Location	18q11.2
Position	chr18:20378224-20606451, 1
External Links	HGNC: 9891 Entrez Gene: 5932 Ensembl: ENSG00000101773 UCSC: uc002ktw.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

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: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
18q11.2-12.3	chr18:19000000-43500000	1 (1/0/0)

Gene related GO terms (count: 19)

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

GO terms by database search (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0010792	DNA double-strand break processing involved in repair via single-strand annealing	biological process	IMP[18716619]	3
GO:0007126	meiosis	biological process	IEA	11
GO:0005515	protein binding	molecular function	IPI[16287852]	1015
GO:0005634	nucleus	cellular component	TAS[10764811]	877
GO:0006281	DNA repair	biological process	TAS[10764811]	70
GO:0001103	RNA polymerase II repressing transcription factor binding	molecular function	IPI[16287852]	4
GO:0000724	double-strand break repair via homologous recombination	biological process	IDA	15
GO:0003684	damaged DNA binding	molecular function	IDA[18716619]	12
GO:0007067	mitosis	biological process	IEA	45
GO:0000014	single-stranded DNA specific endodeoxyribonuclease activity	molecular function	IMP[18716619]	3
GO:0000075	cell cycle checkpoint	biological process	TAS[10764811]	21
GO:0006357	regulation of transcription from RNA polymerase II promoter	biological process	TAS[10764811]	46
GO:0051301	cell division	biological process	IEA	68
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[16287852]	90
GO:0017053	transcriptional repressor complex	cellular component	IDA[16287852]	8
GO:0000082	G1/S transition of mitotic cell cycle	biological process	IEA	27
GO:0031572	G2/M transition DNA damage checkpoint	biological process	IDA[15485915]	8
GO:0001106	RNA polymerase II transcription corepressor activity	molecular function	IDA[16287852]	4
GO:0001835	blastocyst hatching	biological process	IEA	2

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with RBBP8 (count: 20)

Gene Symbol	Pathway Count	Pathway List
SMC3	6	meiosis; protein binding; nucleus; DNA repair; mitosis; cell division;
H2AFX	6	meiosis; protein binding; nucleus; DNA repair; double-strand break repair via homologous recombination; damaged DNA binding;
SMC1A	6	meiosis; protein binding; nucleus; DNA repair; cell cycle checkpoint; cell division;
ERCC4	6	protein binding; nucleus; DNA repair; double-strand break repair via homologous recombination; damaged DNA binding; single-stranded DNA specific endodeoxyribonuclease activity;
MRE11A	6	protein binding; nucleus; DNA repair; double-strand break repair via homologous recombination; single-stranded DNA specific endodeoxyribonuclease activity; cell cycle checkpoint;
TP53BP1	5	protein binding; nucleus; DNA repair; double-strand break repair via homologous recombination; damaged DNA binding;
CEP164	5	protein binding; nucleus; DNA repair; mitosis; cell division;
UBE2I	5	protein binding; nucleus; mitosis; cell division; negative regulation of transcription from RNA polymerase II promoter;
CDCA5	5	protein binding; nucleus; mitosis; cell division; G1/S transition of mitotic cell cycle;
RCC1	5	protein binding; nucleus; mitosis; cell division; G1/S transition of mitotic cell cycle;
USP37	5	protein binding; nucleus; mitosis; cell division; G1/S transition of mitotic cell cycle;
LATS2	5	protein binding; nucleus; mitosis; cell division; G1/S transition of mitotic cell cycle;
DDB1	5	protein binding; nucleus; DNA repair; damaged DNA binding; cell cycle checkpoint;
RAD1	5	protein binding; nucleus; DNA repair; damaged DNA binding; cell cycle checkpoint;
PLK1	5	protein binding; nucleus; mitosis; negative regulation of transcription from RNA polymerase II promoter; G2/M transition DNA damage checkpoint;
UBC	5	protein binding; DNA repair; cell cycle checkpoint; negative regulation of transcription from RNA polymerase II promoter; G1/S transition of mitotic cell cycle;
PTTG1	5	protein binding; nucleus; DNA repair; mitosis; cell division;
CHEK1	5	protein binding; nucleus; DNA repair; cell cycle checkpoint; G2/M transition DNA damage checkpoint;
ATM	5	protein binding; DNA repair; double-strand break repair via homologous recombination; cell cycle checkpoint; G2/M transition DNA damage checkpoint;
UBB	5	protein binding; DNA repair; cell cycle checkpoint; negative regulation of transcription from RNA polymerase II promoter; G1/S transition of mitotic cell cycle;

Genes shared at least 2 KEGG pathways with RBBP8 (count: 0)

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Region: chr18:20378224..20606451 View in gBrowse