Hs02570977_cn

• Gene Symbol: TPP1
• Assay Reference Genome Location: Chr.11:6619461 on build GRCh38
• Cytoband: 11p15.4

Target Gene Details

• Entrez Gene ID: 1200
• Gene Name: tripeptidyl peptidase 1
• Gene Aliases: CLN2, GIG1, LPIC, SCAR7, TPP-1
• Location: Chr.11:6612766-6619461 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TPP1	NM_000391.3			NP_000382.3
	AK222499.1			BAD96219.1
	AK222538.1			BAD96258.1
	AK293518.1
	AK293741.1
	AK295801.1
	AK299703.1
	AK300998.1
	AK303323.1
	AK312388.1
	BP279860.1
	BP287220.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv553373	Chr.11:6601484 - 6647097 on Build GRCh38	Loss	RRP8 DCHS1 TAF10 ILK TPP1
nsv1035138	Chr.11:6607812 - 6980555 on Build GRCh38	Gain	OR2AG1 OR10A4 GVINP1 OR6A2 OR10A2 DCHS1 ZNF215 TAF10 OR10A5 OR2D2 MRPL17 OR2AG2 ILK OR2D3 TPP1
nsv553374	Chr.11:6616273 - 6664327 on Build GRCh38	Loss	DCHS1 TPP1
nsv825755	Chr.11:6591998 - 6656613 on Build GRCh38	Gain	RRP8 DCHS1 TAF10 ILK TPP1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

proteolysis
lipid metabolic process
lysosome organization
nervous system development
central nervous system development
protein catabolic process
epithelial cell differentiation
IRE1-mediated unfolded protein response
peptide catabolic process
bone resorption
neuromuscular process controlling balance

Function(s)

endopeptidase activity
serine-type endopeptidase activity
protein binding
peptidase activity
serine-type peptidase activity
tripeptidyl-peptidase activity
peptide binding
metal ion binding