Hs01722014_cn

• Gene Symbol: DDHD2
• Assay Reference Genome Location: Chr.8:38267905 on build GRCh38
• Cytoband: 8p11.23

Target Gene Details

• Entrez Gene ID: 23259
• Gene Name: DDHD domain containing 2
• Gene Aliases: SAMWD1, SPG54, iPLA(1)gamma
• Location: Chr.8:38231343-38273442 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDHD2

Target Gene Details

• Entrez Gene ID: 84513
• Gene Name: phospholipid phosphatase 5
• Gene Aliases: DPPL1, HTPAP, PPAPDC1B
• Location: Chr.8:38263130-38269435 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLPP5	NM_001102559.1			NP_001096029.1
	NM_001102560.1			NP_001096030.1
	NM_032483.3			NP_115872.2
	XM_005273661.4			XP_005273718.2
	XM_005273663.3			XP_005273720.2
	XM_011544670.2			XP_011542972.1
	XM_011544671.1			XP_011542973.1
	XM_011544672.1			XP_011542974.1
	XM_011544674.2			XP_011542976.1
	XM_011544675.2			XP_011542977.1
	XM_017013905.1			XP_016869394.1
	XM_017013906.1			XP_016869395.1
	XM_017013907.1			XP_016869396.1
	AF212238.1			AAK14924.1
	AK292118.1
	BC033025.1			AAH33025.1
	BC106014.1
	BE856962.1
	BQ272061.1
	DB458595.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv7164n100	Chr.8:38194164 - 38310837 on Build GRCh38	Gain	DDHD2 BAG4 PLPP5 WHSC1L1

More Information

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

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

phospholipid metabolic process
signal transduction
phospholipid dephosphorylation

Function(s)

phosphatidate phosphatase activity