Hs03754326_cn

• Gene Symbol: PITRM1
• Assay Reference Genome Location: Chr.10:3149976 on build GRCh38
• Cytoband: 10p15.2

Target Gene Details

• Entrez Gene ID: 10531
• Gene Name: pitrilysin metallopeptidase 1
• Gene Aliases: MP1, PreP
• Location: Chr.10:3137727-3172841 on Build GRCh38
• Assay Gene Location: Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PITRM1	NM_001242307.1			NP_001229236.1
	NM_001242309.1			NP_001229238.1
	NM_014889.3			NP_055704.2
	XM_005252345.3			XP_005252402.1
	XM_017015470.1			XP_016870959.1
	XM_017015471.1			XP_016870960.1
	XM_017015472.1			XP_016870961.1
	XM_017015473.1			XP_016870962.1
	AB029027.2			BAA83056.2
	AF061243.1			AAC67244.1
	AK002061.1
	AK023476.1
	AK225084.1
	AK294865.1
	AK299464.1
	AK303406.1
	AK315117.1
	BC001150.1			AAH01150.1
	BC005025.1			AAH05025.1
	BC095422.1			AAH95422.1
	BC111987.1			AAI11988.1
	BC113369.1
	BX649017.1
	CR749279.1			CAH18134.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv549814	Chr.10:3055020 - 3170233 on Build GRCh38	Loss	PITRM1-AS1 LOC101927824 PITRM1 SNORD142 PFKP
esv3622167	Chr.10:3137807 - 3185609 on Build GRCh38	Gain	PITRM1-AS1 PITRM1
dgv932n54	Chr.10:2382612 - 3253481 on Build GRCh38	Gain	PITRM1-AS1 LOC101927824 LOC105376353 LOC105376351 PITRM1 SNORD142 LOC107983989 PFKP
esv2730995	Chr.10:2770220 - 3706473 on Build GRCh38	Deletion	LOC105376360 PITRM1-AS1 LOC101927824 LOC105376353 PITRM1 LOC105376501 SNORD142 PFKP
nsv428229	Chr.10:2618610 - 3156581 on Build GRCh38	Gain	PITRM1-AS1 LOC101927824 PITRM1 SNORD142 PFKP
nsv549818	Chr.10:3081241 - 3227125 on Build GRCh38	Gain	PITRM1-AS1 PITRM1 SNORD142 PFKP
nsv1044106	Chr.10:3136689 - 3186881 on Build GRCh38	Loss	PITRM1-AS1 PITRM1 PFKP
nsv1039231	Chr.10:3131146 - 3736633 on Build GRCh38	Loss	LOC105376360 PITRM1-AS1 LOC105376353 PITRM1 LOC105376501 SNORD142 PFKP
esv2750891	Chr.10:3098894 - 3164173 on Build GRCh38	Loss	PITRM1-AS1 PITRM1 SNORD142 PFKP
nsv549810	Chr.10:3035272 - 3691194 on Build GRCh38	Gain	LOC105376360 PITRM1-AS1 LOC101927824 LOC105376353 PITRM1 LOC105376501 SNORD142 PFKP

More Information

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

Panther Classification:

Molecular Function -

metalloprotease, protease, protein modifying enzyme

Gene Ontology Categories:

Process(es)

proteolysis
protein processing
positive regulation of catalytic activity

Function(s)

metalloendopeptidase activity
enzyme activator activity
zinc ion binding