Hs02171940_cn

• Gene Symbol: EMG1
• Assay Reference Genome Location: Chr.12:6981050 on build GRCh38
• Cytoband: 12p13.31

Target Gene Details

• Entrez Gene ID: 10436
• Gene Name: EMG1, N1-specific pseudouridine methyltransferase
• Gene Aliases: C2F, Grcc2f, NEP1
• Location: Chr.12:6970781-6997428 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EMG1	NR_135131.1
	AK298745.1

Target Gene Details

• Entrez Gene ID: 10162
• Gene Name: lysophosphatidylcholine acyltransferase 3
• Gene Aliases: C3F, LPCAT, LPLAT 5, LPSAT, MBOAT5, OACT5, nessy
• Location: Chr.12:6976185-7018538 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LPCAT3	NM_005768.5			NP_005759.4
	AK096775.1
	AK296145.1
	AK296164.1
	AK296171.1
	AK311727.1
	AK315538.1
	AU125262.1
	BC000664.2			AAH00664.2
	BC065194.1			AAH65194.1
	BT007000.1			AAP35646.1
	BX647983.1
	BX648009.1
	U72515.1			AAC51640.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1047373	Chr.12:6902891 - 7055754 on Build GRCh38	Gain	MIR200C PHB2 C12orf57 ATN1 ENO2 LRRC23 LPCAT3 PTPN6 MIR141 SCARNA12 EMG1 LOC105369635 RNU7-1
nsv1039509	Chr.12:6978884 - 7058255 on Build GRCh38	Gain	EMG1 LPCAT3
nsv509453	Chr.12:6896530 - 7007852 on Build GRCh38	Insertion	MIR200C PHB2 C12orf57 ATN1 ENO2 LRRC23 LPCAT3 PTPN6 MIR141 SCARNA12 EMG1 LOC105369635 RNU7-1
nsv1035811	Chr.12:6876316 - 6994911 on Build GRCh38	Gain	DSTNP2 MIR200C PHB2 C12orf57 ATN1 ENO2 LRRC23 LPCAT3 PTPN6 MIR141 LOC105369632 SCARNA12 EMG1 RPL13P5 LOC105369635 RNU7-1

More Information

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

Panther Classification:

Molecular Function -

acetyltransferase

Gene Ontology Categories:

Process(es)

maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
rRNA processing
ribosomal small subunit biogenesis
rRNA base methylation
phospholipid biosynthetic process
phosphatidylserine acyl-chain remodeling
phosphatidylcholine acyl-chain remodeling
phosphatidylethanolamine acyl-chain remodeling
regulation of plasma lipoprotein particle levels

Function(s)

RNA binding
protein binding
rRNA binding
poly(A) RNA binding
rRNA (pseudouridine) methyltransferase activity
1-acylglycerol-3-phosphate O-acyltransferase activity
2-acylglycerol-3-phosphate O-acyltransferase activity
1-acylglycerophosphocholine O-acyltransferase activity