Hs00947735_cn

• Gene Symbol: PRELID3A
• Assay Reference Genome Location: Chr.18:12431175 on build GRCh38
• Cytoband: 18p11.21

Target Gene Details

• Entrez Gene ID: 10650
• Gene Name: PRELI domain containing 3A
• Gene Aliases: C18orf43, HFL-EDDG1, SLMO1
• Location: Chr.18:12407896-12432238 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRELID3A	NM_001142405.1			NP_001135877.1
	NM_001142406.1			NP_001135878.1
	NM_006553.3			NP_006544.2
	AK056046.1			BAB71083.1
	AK303325.1
	AL359942.1			CAB95773.1
	BC106750.2			AAI06751.1
	CR627465.1			CAH10669.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519557	Chr.18:12417906 - 12431507 on Build GRCh38	Loss	PRELID3A
nsv1060808	Chr.18:12302793 - 12514418 on Build GRCh38	Gain	SPIRE1 TUBB6 LOC105371998 AFG3L2 PRELID3A
nsv576496	Chr.18:12247873 - 12490503 on Build GRCh38	Gain	SPIRE1 CIDEA TUBB6 LOC105371998 AFG3L2 PRELID3A
esv3341464	Chr.18:12429453 - 12431251 on Build GRCh38	Duplication	PRELID3A
nsv1063125	Chr.18:12046893 - 12918252 on Build GRCh38	Loss	CEP76 SPIRE1 CIDEA ANKRD62 LOC105371998 AFG3L2 C18orf61 PTPN2 LOC100996333 PSMG2 TUBB6 PRELID3A LOC100996324
esv2758714	Chr.18:12240682 - 12499526 on Build GRCh38	Loss	SPIRE1 CIDEA TUBB6 LOC105371998 AFG3L2 PRELID3A

More Information

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

Gene Ontology Categories:

Process(es)

phospholipid transport
positive regulation of protein targeting to mitochondrion

Function(s)

protein binding
phosphatidic acid transporter activity