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	TP53BP1
Symbol Alias	53BP1, p202
Approved Name	tumor protein p53 binding protein 1
Previous Name	tumor protein p53-binding protein, 1
Location	15q15-q21
Position	chr15:43699407-43802926, -
External Links	HGNC: 11999 Entrez Gene: 7158 Ensembl: ENSG00000067369 UCSC: uc001zrr.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 0)

Gene related SNPs (count: 59)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2439832	Chr15:43779686(Fwd)	intron_variant; nc_transcript_variant	2(0/2/0)

LD-proxies (count: 58)

rs_ID	Location	Functional Annotation
rs12914122	Chr15:43731154(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs12913977	Chr15:43731111(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs16957730	Chr15:43730486(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs2242069	Chr15:43713634(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs1837960	Chr15:43698602(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant
rs690316	Chr15:43737880(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs537115	Chr15:43729948(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs2245790	Chr15:43744457(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs2467739	Chr15:43740196(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs7180812	Chr15:43695231(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs2264876	Chr15:43757419(Fwd)	intron_variant; nc_transcript_variant
rs2444032	Chr15:43755346(Fwd)	intron_variant; nc_transcript_variant
rs690436	Chr15:43761205(Fwd)	intron_variant; nc_transcript_variant
rs1814538	Chr15:43759774(Fwd)	intron_variant; nc_transcript_variant
rs2467736	Chr15:43784917(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs689781	Chr15:43792097(Fwd)	intron_variant; nc_transcript_variant
rs689647	Chr15:43762196(Fwd)	missense_variant; nc_transcript_variant; non_coding_exon_variant
rs2439831	Chr15:43784475(Fwd)	intron_variant; nc_transcript_variant; splice_region_variant
rs689835	Chr15:43714970(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2444029	Chr15:43737484(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs2251538	Chr15:43767209(Fwd)	intron_variant; nc_transcript_variant
rs527921	Chr15:43770416(Fwd)	intron_variant; nc_transcript_variant
rs689826	Chr15:43749916(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs7173487	Chr15:43750239(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2444250	Chr15:43785051(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2439850	Chr15:43784854(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs689754	Chr15:43775895(Fwd)	intron_variant; nc_transcript_variant
rs544122	Chr15:43775732(Fwd)	intron_variant; nc_transcript_variant
rs495175	Chr15:43798684(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2253708	Chr15:43797273(Fwd)	intron_variant; nc_transcript_variant
rs694725	Chr15:43756210(Fwd)	intron_variant; nc_transcript_variant
rs690472	Chr15:43764368(Fwd)	intron_variant; nc_transcript_variant
rs690367	Chr15:43748304(Fwd)	NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant
rs2244981	Chr15:43752751(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2467738	Chr15:43739936(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs2467741	Chr15:43742626(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs536313	Chr15:43729998(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs2467737	Chr15:43737188(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs2467745	Chr15:43722742(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2602141	Chr15:43724646(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs542898	Chr15:43719392(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs689767	Chr15:43722077(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs693510	Chr15:43714625(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs690512	Chr15:43717678(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs690276	Chr15:43704558(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs690466	Chr15:43712042(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs1058298	Chr15:43700930(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs12911740	Chr15:43790452(Fwd)	intron_variant; nc_transcript_variant
rs16957715	Chr15:43708737(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs7173383	Chr15:43773036(Fwd)	intron_variant; nc_transcript_variant
rs506120	Chr15:43802024(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2253268	Chr15:43800968(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs529611	Chr15:43805988(Fwd)	intron_variant; upstream_gene_variant
rs1869258	Chr15:43803621(Fwd)	intron_variant; upstream_gene_variant
rs493377	Chr15:43773467(Fwd)	intron_variant; nc_transcript_variant
rs560191	Chr15:43767774(Fwd)	missense_variant; nc_transcript_variant; non_coding_exon_variant
rs2444251	Chr15:43788595(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs1079309	Chr15:43783164(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 20)

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

GO terms by database search (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0002039	p53 binding	Molecular Function	IPI[17805299]	11
GO:0003684	damaged DNA binding	Molecular Function		10
GO:0001102	RNA polymerase II activating transcription factor binding	Molecular Function	IPI[17805299]	6
GO:0001104	RNA polymerase II transcription cofactor activity	Molecular Function	IMP[17805299]	16
GO:0000777	condensed chromosome kinetochore	Cellular Component		13
GO:0000781	chromosome, telomeric region	Cellular Component	IDA[15149599]	9
GO:0000724	double-strand break repair via homologous recombination	Biological Process		12
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	Biological Process	IC[17805299]	11
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	IMP[17805299]	131
GO:0045893	positive regulation of transcription, DNA-dependent	Biological Process	NAS[9748285]	80
GO:0042162	telomeric DNA binding	Molecular Function		4
GO:0035064	methylated histone residue binding	Molecular Function		7
GO:0006974	response to DNA damage stimulus	Biological Process	IDA[17500065]	37
GO:0006302	double-strand break repair	Biological Process		11
GO:0006281	DNA repair	Biological Process		62
GO:0005737	cytoplasm	Cellular Component	IDA[9748285]	690
GO:0005657	replication fork	Cellular Component		3
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005634	nucleus	Cellular Component		770
GO:0005515	protein binding	Molecular Function		910

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with TP53BP1 (count: 60)

Gene Symbol	Pathway Count	Pathway List
H2AFX	10	damaged DNA binding; chromosome, telomeric region; double-strand break repair via homologous recombination; response to DNA damage stimulus; double-strand break repair; DNA repair; replication fork; nucleoplasm; nucleus; protein binding;
MRE11A	8	chromosome, telomeric region; double-strand break repair via homologous recombination; response to DNA damage stimulus; double-strand break repair; DNA repair; nucleoplasm; nucleus; protein binding;
ATM	7	chromosome, telomeric region; double-strand break repair via homologous recombination; response to DNA damage stimulus; double-strand break repair; DNA repair; nucleoplasm; protein binding;
CHEK1	7	chromosome, telomeric region; response to DNA damage stimulus; DNA repair; replication fork; nucleoplasm; nucleus; protein binding;
IRF7	7	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; response to DNA damage stimulus; cytoplasm; nucleoplasm; nucleus; protein binding;
MEN1	7	positive regulation of transcription from RNA polymerase II promoter; response to DNA damage stimulus; DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;
NCOA6	7	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; response to DNA damage stimulus; DNA repair; nucleoplasm; nucleus; protein binding;
XRCC5	7	telomeric DNA binding; double-strand break repair; DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;
KDM1A	6	p53 binding; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; nucleoplasm; nucleus; protein binding;
SMARCB1	6	p53 binding; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; nucleoplasm; nucleus; protein binding;
DDB1	6	damaged DNA binding; DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;
FEN1	6	damaged DNA binding; double-strand break repair; DNA repair; nucleoplasm; nucleus; protein binding;
RAD1	6	damaged DNA binding; response to DNA damage stimulus; DNA repair; nucleoplasm; nucleus; protein binding;
RAD23B	6	damaged DNA binding; DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;
MED1	6	RNA polymerase II transcription cofactor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; nucleoplasm; nucleus; protein binding;
SMC1A	6	condensed chromosome kinetochore; DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;
TERF2IP	6	chromosome, telomeric region; telomeric DNA binding; cytoplasm; nucleoplasm; nucleus; protein binding;
RELA	6	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; cytoplasm; nucleoplasm; nucleus; protein binding;
YAP1	6	positive regulation of transcription from RNA polymerase II promoter; response to DNA damage stimulus; cytoplasm; nucleoplasm; nucleus; protein binding;
APBB1	6	positive regulation of transcription, DNA-dependent; response to DNA damage stimulus; double-strand break repair; cytoplasm; nucleus; protein binding;
MAPK1	6	positive regulation of transcription, DNA-dependent; response to DNA damage stimulus; cytoplasm; nucleoplasm; nucleus; protein binding;
MMS19	6	positive regulation of transcription, DNA-dependent; response to DNA damage stimulus; DNA repair; cytoplasm; nucleus; protein binding;
RAD9A	6	response to DNA damage stimulus; DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;
TRIP12	6	response to DNA damage stimulus; DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;
GSK3B	5	p53 binding; positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleus; protein binding;
USP10	5	p53 binding; DNA repair; cytoplasm; nucleus; protein binding;
RBBP8	5	damaged DNA binding; double-strand break repair via homologous recombination; DNA repair; nucleus; protein binding;
RPS3	5	damaged DNA binding; response to DNA damage stimulus; cytoplasm; nucleus; protein binding;
XPA	5	damaged DNA binding; DNA repair; nucleoplasm; nucleus; protein binding;
HEY2	5	RNA polymerase II activating transcription factor binding; positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleus; protein binding;
NCOR1	5	RNA polymerase II activating transcription factor binding; cytoplasm; nucleoplasm; nucleus; protein binding;
MED12	5	RNA polymerase II transcription cofactor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; nucleoplasm; nucleus;
MED13	5	RNA polymerase II transcription cofactor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; nucleoplasm; nucleus;
MED14	5	RNA polymerase II transcription cofactor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; nucleoplasm; nucleus;
MED17	5	RNA polymerase II transcription cofactor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; nucleoplasm; nucleus;
MED30	5	RNA polymerase II transcription cofactor activity; positive regulation of transcription, DNA-dependent; nucleoplasm; nucleus; protein binding;
MED4	5	RNA polymerase II transcription cofactor activity; positive regulation of transcription, DNA-dependent; nucleoplasm; nucleus; protein binding;
RBM14	5	RNA polymerase II transcription cofactor activity; positive regulation of transcription from RNA polymerase II promoter; DNA repair; nucleus; protein binding;
THRAP3	5	RNA polymerase II transcription cofactor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; nucleus; protein binding;
NDNL2	5	chromosome, telomeric region; DNA repair; cytoplasm; nucleus; protein binding;
AATF	5	positive regulation of transcription from RNA polymerase II promoter; response to DNA damage stimulus; cytoplasm; nucleus; protein binding;
ATXN1	5	positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleoplasm; nucleus; protein binding;
KAT5	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; double-strand break repair; nucleus; protein binding;
MAPK3	5	positive regulation of transcription from RNA polymerase II promoter; response to DNA damage stimulus; nucleoplasm; nucleus; protein binding;
NR4A2	5	positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleoplasm; nucleus; protein binding;
RBPJ	5	positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleoplasm; nucleus; protein binding;
STRN3	5	positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleoplasm; nucleus; protein binding;
TFAP2A	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; cytoplasm; nucleus; protein binding;
HINFP	5	positive regulation of transcription, DNA-dependent; DNA repair; nucleoplasm; nucleus; protein binding;
SMARCD3	5	positive regulation of transcription, DNA-dependent; cytoplasm; nucleoplasm; nucleus; protein binding;
BARD1	5	response to DNA damage stimulus; DNA repair; cytoplasm; nucleus; protein binding;
CHD1L	5	response to DNA damage stimulus; DNA repair; cytoplasm; nucleus; protein binding;
EGLN3	5	response to DNA damage stimulus; cytoplasm; nucleoplasm; nucleus; protein binding;
ERCC8	5	response to DNA damage stimulus; DNA repair; nucleoplasm; nucleus; protein binding;
HERC2	5	response to DNA damage stimulus; DNA repair; cytoplasm; nucleus; protein binding;
USP28	5	response to DNA damage stimulus; DNA repair; nucleoplasm; nucleus; protein binding;
FANCA	5	DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;
FANCC	5	DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;
SMC3	5	DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;
SSRP1	5	DNA repair; cytoplasm; nucleoplasm; nucleus; protein binding;

Genes shared at least 2 KEGG pathways with TP53BP1 (count: 0)

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Region: chr15:43699407..43802926 View in gBrowse