Hs00315920_cn

• Gene Symbol: MTFR1
• Assay Reference Genome Location: Chr.8:65724301 on build GRCh38
• Cytoband: 8q13.1

Target Gene Details

• Entrez Gene ID: 9650
• Gene Name: mitochondrial fission regulator 1
• Gene Aliases: CHPPR, FAM54A2
• Location: Chr.8:65643873-65771252 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTFR1	XM_006716484.2			XP_006716547.2
	XM_011517626.1			XP_011515928.1
	XM_011517627.2			XP_011515929.1
	XM_011517628.2			XP_011515930.1

Target Gene Details

• Entrez Gene ID: 5150
• Gene Name: phosphodiesterase 7A
• Gene Aliases: HCP1, PDE7
• Location: Chr.8:65714334-65841734 on Build GRCh38
• Assay Gene Location: Overlaps Intron 12 - Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE7A	NM_001242318.2			NP_001229247.1
	NM_002603.3			NP_002594.1
	XM_011517540.2			XP_011515842.1
	XM_017013538.1			XP_016869027.1
	AF332652.1			AAK57640.1
	AK290801.1
	AK292680.1
	BC126360.1
	U67932.1			AAB65772.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv395873	Chr.8:65723621 - 65724253 on Build GRCh38	Deletion	MTFR1 PDE7A
dgv247n6	Chr.8:65724352 - 65724778 on Build GRCh38	Deletion	MTFR1 PDE7A

More Information

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

Panther Classification:

Molecular Function -

phosphodiesterase

Gene Ontology Categories:

Process(es)

mitochondrial fission
mitochondrion organization
aerobic respiration
cAMP catabolic process
cAMP-mediated signaling

Function(s)

3',5'-cyclic-AMP phosphodiesterase activity
metal ion binding