Hs04364983_cn

• Gene Symbol: PMPCA
• Assay Reference Genome Location: Chr.9:136419471 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: Within 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	5	1879
	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 SNAPC4 SDCCAG3 CARD9 SEC16A
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	INPP5E PMPCA SNAPC4 GPSM1 SDCCAG3 DNLZ CARD9 SEC16A
nsv6766	Chr.9:136414215 - 136448876 on Build GRCh38	Insertion	INPP5E PMPCA SEC16A
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	TMEM210 NALT1 DPP7 MAN1B1-AS1 LCNL1 FAM69B LCN15 INPP5E SNAPC4 CCDC183-AS1 NOTCH1 MIR3621 C8G DNLZ LCN6 LRRC26 MIR6722 LOC101930307 UAP1L1 SNHG7 CLIC3 LINC01451 PMPCA MIR4479 MIR4673 EGFL7 GRIN1 LOC100128593 ABCA2 LCN8 LCN10 NPDC1 EDF1 PRR31 CARD9 SEC16A MIR4674 SNORA17B SNORA17A SAPCD2 C9orf139 C9orf172 LCN12 PHPT1 CCDC183 C9orf163 FBXW5 AGPAT2 MAN1B1 ENTPD2 C9orf142 MAMDC4 SDCCAG3 HSPC324 MIR126 MIR4292 RABL6 PTGDS TRAF2 FUT7 TMEM141
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	LCN10 NALT1 EDF1 CARD9 SEC16A FAM69B LCN15 INPP5E SNAPC4 MIR4674 SNORA17B GPSM1 SNORA17A C9orf172 CCDC183-AS1 NOTCH1 PHPT1 CCDC183 DNLZ LCN6 C9orf163 MIR6722 AGPAT2 SNHG7 LINC01451 MAMDC4 PMPCA SDCCAG3 HSPC324 MIR4479 MIR4673 MIR126 EGFL7 MIR4292 RABL6 LOC100128593 TRAF2 LCN8 TMEM141
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	LOC107987142 LOC101928722 DKFZP434A062 DNLZ C9orf163 LHX3 CARD9 UBAC1 LOC105376323 CAMSAP1 SEC16A ESP33 C9orf69 INPP5E PMPCA SNAPC4 GPSM1 QSOX2 SDCCAG3 NOTCH1 NACC2 CCDC187
nsv615963	Chr.9:136386314 - 136474501 on Build GRCh38	Loss	INPP5E PMPCA SNAPC4 SDCCAG3 SEC16A
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	LOC107987142 DKFZP434A062 NALT1 LHX3 CARD9 SEC16A ESP33 C9orf69 INPP5E SNAPC4 MIR4674 GPSM1 QSOX2 NOTCH1 NACC2 LOC101928722 DNLZ C9orf163 KCNT1 UBAC1 LOC105376323 CAMSAP1 PMPCA SDCCAG3 MIR4673 CCDC187

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