Hs01635256_cn

• Gene Symbol: PRELID3A
• Assay Reference Genome Location: Chr.18:12420387 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: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRELID3A	NM_001142405.1	2	175	NP_001135877.1
	NM_001142406.1	1	199	NP_001135878.1
	NM_006553.3	2	175	NP_006544.2
	AK056046.1	2	142	BAB71083.1
	AK303325.1	1	199
	BC106750.2	2	132	AAI06751.1
	DB018070.1	2	175

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	PRELID3A TUBB6 LOC105371998 AFG3L2 SPIRE1
nsv576496	Chr.18:12247873 - 12490503 on Build GRCh38	Gain	PRELID3A TUBB6 CIDEA LOC105371998 AFG3L2 SPIRE1
nsv1063125	Chr.18:12046893 - 12918252 on Build GRCh38	Loss	PSMG2 PTPN2 LOC100996333 PRELID3A C18orf61 TUBB6 CIDEA LOC100996324 CEP76 ANKRD62 LOC105371998 AFG3L2 SPIRE1
nsv9610	Chr.18:12417587 - 12424528 on Build GRCh38	Gain	PRELID3A
esv2758714	Chr.18:12240682 - 12499526 on Build GRCh38	Loss	PRELID3A TUBB6 CIDEA LOC105371998 AFG3L2 SPIRE1

More Information

Additional Information:

• Set Membership: Intragenic, Exonic, DGV Variation, Validated

Gene Ontology Categories:

Process(es)

phospholipid transport
positive regulation of protein targeting to mitochondrion

Function(s)

protein binding
phosphatidic acid transporter activity