Hs02051725_cn

• Gene Symbol: PMPCA
• Assay Reference Genome Location: Chr.9:136419081 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 23203
• Gene Name: peptidase, mitochondrial processing alpha subunit
• Gene Aliases: Alpha-MPP, INPP5E, P-55, SCAR2
• Location: Chr.9:136410573-136423761 on Build GRCh38
• Assay Gene Location: Overlaps Intron 10 - Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMPCA	NM_001282944.1			NP_001269873.1
	NM_001282946.1			NP_001269875.1
	NM_015160.2			NP_055975.1
	XM_005266059.4			XP_005266116.1
	XM_011518417.2			XP_011516719.1
	XM_017014543.1			XP_016870032.1
	AK091455.1
	AK129769.1			BAC85231.1
	AK296617.1
	AK308104.1
	BC004342.1			AAH04342.1
	BC022949.1			AAH22949.1
	BC033103.1			AAH33103.2
	BC111399.1
	BC132724.1
	BC136599.1
	D21064.1			BAA04643.1
	D50913.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831760	Chr.9:136366430 - 136480358 on Build GRCh38	Loss	INPP5E PMPCA SEC16A SDCCAG3 SNAPC4 CARD9
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	INPP5E PMPCA SEC16A SDCCAG3 SNAPC4 CARD9 GPSM1 DNLZ
nsv6766	Chr.9:136414215 - 136448876 on Build GRCh38	Insertion	INPP5E PMPCA SEC16A
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	EGFL7 CCDC183 ABCA2 SEC16A SNHG7 MIR4673 MIR4674 EDF1 MIR6722 C9orf139 PRR31 SNORA17A DPP7 MAN1B1 SNAPC4 NOTCH1 DNLZ LCN6 PHPT1 FUT7 LCN10 ENTPD2 SDCCAG3 FBXW5 INPP5E MAMDC4 CCDC183-AS1 MIR4292 LCN8 LOC100128593 RABL6 TMEM210 MAN1B1-AS1 SNORA17B NPDC1 CLIC3 LCN12 FAM69B PMPCA MIR3621 SAPCD2 LINC01451 AGPAT2 UAP1L1 LCNL1 LRRC26 NALT1 GRIN1 MIR126 C9orf142 C8G LCN15 CARD9 LOC101930307 C9orf163 C9orf172 TMEM141 HSPC324 TRAF2 PTGDS MIR4479
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	EGFL7 LOC100128593 CCDC183 RABL6 SNORA17B SEC16A SNHG7 MIR4673 MIR4674 GPSM1 EDF1 MIR6722 FAM69B PMPCA SNORA17A LINC01451 SNAPC4 NOTCH1 DNLZ LCN6 AGPAT2 PHPT1 NALT1 LCN10 MIR126 LCN15 SDCCAG3 CARD9 C9orf163 INPP5E C9orf172 TMEM141 HSPC324 MAMDC4 TRAF2 CCDC183-AS1 MIR4292 LCN8 MIR4479
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	ESP33 QSOX2 CCDC187 UBAC1 LOC101928722 LOC105376323 SEC16A SDCCAG3 LOC107987142 CARD9 GPSM1 C9orf69 C9orf163 INPP5E DKFZP434A062 PMPCA LHX3 CAMSAP1 NACC2 SNAPC4 NOTCH1 DNLZ
nsv615963	Chr.9:136386314 - 136474501 on Build GRCh38	Loss	INPP5E PMPCA SEC16A SDCCAG3 SNAPC4
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	CCDC187 LOC105376323 SEC16A LOC107987142 MIR4673 MIR4674 GPSM1 C9orf69 KCNT1 PMPCA SNAPC4 NOTCH1 DNLZ ESP33 QSOX2 UBAC1 LOC101928722 NALT1 SDCCAG3 CARD9 C9orf163 INPP5E DKFZP434A062 LHX3 CAMSAP1 NACC2

More Information

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

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

proteolysis
protein processing involved in protein targeting to mitochondrion

Function(s)

metalloendopeptidase activity
zinc ion binding