Hs06253695_cn

• Gene Symbol: PCMTD1
• Assay Reference Genome Location: Chr.8:51834151 on build GRCh38
• Cytoband: 8q11.23

Target Gene Details

• Entrez Gene ID: 115294
• Gene Name: protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
• Gene Aliases: -
• Location: Chr.8:51817575-51899186 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCMTD1	NM_001286782.1			NP_001273711.1
	NM_001286783.1			NP_001273712.1
	NM_052937.3			NP_443169.2
	XM_005251146.2			XP_005251203.1
	XM_011517444.2			XP_011515746.1
	XM_017013017.1			XP_016868506.1
	AK056952.1			BAB71324.1
	AK304332.1
	AL833027.1			CAH56272.1
	BC010693.1			AAH10693.1
	BC032670.1			AAH32670.1
	BP418683.1
	BX640885.1			CAE45939.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv7215n100	Chr.8:51498883 - 51974205 on Build GRCh38	Gain	LOC102724330 PXDNL PCMTD1
nsv817615	Chr.8:51339845 - 52110824 on Build GRCh38	Gain	LOC102724330 PXDNL PCMTD1
nsv831316	Chr.8:51747793 - 51930368 on Build GRCh38	Gain	LOC102724330 PXDNL PCMTD1

More Information

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

Panther Classification:

Molecular Function -

methyltransferase

Gene Ontology Categories:

Process(es)

protein methylation

Function(s)

protein-L-isoaspartate (D-aspartate) O-methyltransferase activity