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	TPP1
Previous Symbol	CLN2, SCAR7
Approved Name	tripeptidyl peptidase I
Previous Name	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"
Name Alias	"TPP I"
Location	11p15.4
Position	chr11:6634000-6640692, -1
External Links	HGNC: 2073 Entrez Gene: 1200 Ensembl: ENSG00000166340 UCSC: uc001mel.1
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: 23)

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

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007040	lysosome organization	biological process	ISS	9
GO:0043171	peptide catabolic process	biological process	IMP[15158442]	1
GO:0005515	protein binding	molecular function	IPI[12134079]	1015
GO:0006508	proteolysis	biological process	IMP[10965052]	123
GO:0004252	serine-type endopeptidase activity	molecular function	IEA	40
GO:0030968	endoplasmic reticulum unfolded protein response	biological process	TAS	16
GO:0042277	peptide binding	molecular function	ISS	7
GO:0007399	nervous system development	biological process	IMP[9295267]	60
GO:0006987	activation of signaling protein activity involved in unfolded protein response	biological process	TAS	13
GO:0043202	lysosomal lumen	cellular component	TAS	12
GO:0050885	neuromuscular process controlling balance	biological process	ISS	7
GO:0005739	mitochondrion	cellular component	IEA	221
GO:0042470	melanosome	cellular component	IEA	22
GO:0030163	protein catabolic process	biological process	NAS[10740217]	6
GO:0045453	bone resorption	biological process	IMP[8215436]	4
GO:0046872	metal ion binding	molecular function	IEA	200
GO:0006629	lipid metabolic process	biological process	TAS[9295267]	51
GO:0008240	tripeptidyl-peptidase activity	molecular function	IDA[10965052]; IMP[10679303]	1
GO:0008233	peptidase activity	molecular function	IMP[9295267]	17
GO:0005764	lysosome	cellular component	IDA[15317752]; IMP[9295267]	34
GO:0008219	cell death	biological process	IEA	33
GO:0008236	serine-type peptidase activity	molecular function	IMP[11054422]	16
GO:0004175	endopeptidase activity	molecular function	IDA[10965052]; IMP[10679303]	5

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with TPP1 (count: 4)

Gene Symbol	Pathway Count	Pathway List
SPG7	7	protein binding; proteolysis; nervous system development; mitochondrion; protein catabolic process; peptidase activity; cell death;
FURIN	6	proteolysis; serine-type endopeptidase activity; peptide binding; metal ion binding; peptidase activity; endopeptidase activity;
ARSB	5	lysosome organization; lysosomal lumen; mitochondrion; metal ion binding; lysosome;
MBTPS1	5	proteolysis; serine-type endopeptidase activity; endoplasmic reticulum unfolded protein response; activation of signaling protein activity involved in unfolded protein response; lipid metabolic process;

Genes shared at least 2 KEGG pathways with TPP1 (count: 0)

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Region: chr11:6634000..6640692 View in gBrowse