Hs06750483_cn

• Gene Symbol: PCMT1
• Assay Reference Genome Location: Chr.6:149762342 on build GRCh38
• Cytoband: 6q25.1

Target Gene Details

• Entrez Gene ID: 5110
• Gene Name: protein-L-isoaspartate (D-aspartate) O-methyltransferase
• Gene Aliases: PIMT
• Location: Chr.6:149749695-149811421 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCMT1	NM_001252049.1			NP_001238978.1
	NM_001252050.1			NP_001238979.1
	NM_001252051.1			NP_001238980.1
	NM_001252052.1			NP_001238981.1
	NM_001252053.1			NP_001238982.1
	NM_005389.2			NP_005380.2
	AK098739.1
	AK129778.1
	AK289724.1
	AK304532.1
	AL539512.3
	BC007501.2			AAH07501.1
	BC008748.2			AAH08748.1
	BE262147.1
	BX438393.2
	CX786396.1
	D13892.1			BAA02991.1
	D25545.1			BAA05028.1
	D25546.1			BAA05029.1
	D25547.1			BAA05030.1
	DB478200.1
	DC339361.1
	DC356391.1
	DC421281.1
	M93008.1			AAA90934.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2732861	Chr.6:149681836 - 149764933 on Build GRCh38	Deletion	LOC645967 NUP43 PCMT1 LATS1
nsv1148946	Chr.6:149760954 - 149790529 on Build GRCh38	Deletion	PCMT1
esv2600122	Chr.6:149761954 - 149763873 on Build GRCh38	Deletion	PCMT1
esv2259693	Chr.6:149762343 - 149763237 on Build GRCh38	Deletion	PCMT1

More Information

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

Panther Classification:

Molecular Function -

methyltransferase

Gene Ontology Categories:

Process(es)

protein methylation
protein repair
cell-cell adhesion

Function(s)

protein-L-isoaspartate (D-aspartate) O-methyltransferase activity
protein binding
cadherin binding involved in cell-cell adhesion