Hs02690320_cn

• Gene Symbol: PMPCA
• Assay Reference Genome Location: Chr.9:136410821 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 1

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
	AK296617.1
	AK299304.1
	AK307206.1
	AK308104.1
	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
nsv825174	Chr.9:136401929 - 136413005 on Build GRCh38	Gain	SDCCAG3 PMPCA
nsv831760	Chr.9:136366430 - 136480358 on Build GRCh38	Loss	SDCCAG3 PMPCA SNAPC4 INPP5E SEC16A CARD9
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	SDCCAG3 PMPCA SNAPC4 INPP5E GPSM1 SEC16A DNLZ CARD9
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	PHPT1 MAN1B1 MIR3621 TRAF2 C9orf139 LCN15 MIR4674 LRRC26 ABCA2 SNAPC4 HSPC324 INPP5E MIR4292 GRIN1 SNHG7 PMPCA LOC101930307 RABL6 TMEM210 SNORA17B SAPCD2 CCDC183 LCNL1 C9orf142 FBXW5 SNORA17A C9orf172 DNLZ C9orf163 C8G NOTCH1 ENTPD2 AGPAT2 DPP7 LCN10 MIR4479 EGFL7 TMEM141 LINC01451 MIR6722 EDF1 SEC16A CARD9 LCN12 LCN6 MIR126 SDCCAG3 MIR4673 NPDC1 NALT1 FAM69B PRR31 LOC100128593 MAN1B1-AS1 MAMDC4 PTGDS FUT7 CCDC183-AS1 UAP1L1 LCN8 CLIC3
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	AGPAT2 PHPT1 TRAF2 LCN15 MIR4674 LCN10 MIR4479 EGFL7 SNAPC4 HSPC324 TMEM141 LINC01451 MIR6722 INPP5E MIR4292 EDF1 SEC16A CARD9 LCN6 MIR126 SDCCAG3 SNHG7 PMPCA MIR4673 RABL6 NALT1 FAM69B GPSM1 LOC100128593 MAMDC4 SNORA17B CCDC183-AS1 CCDC183 SNORA17A C9orf172 DNLZ C9orf163 LCN8 NOTCH1
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	SDCCAG3 CCDC187 DKFZP434A062 PMPCA C9orf69 ESP33 GPSM1 LOC101928722 LHX3 CAMSAP1 QSOX2 LOC105376323 LOC107987142 SNAPC4 NACC2 INPP5E SEC16A DNLZ CARD9 C9orf163 UBAC1 NOTCH1
nsv615963	Chr.9:136386314 - 136474501 on Build GRCh38	Loss	SDCCAG3 PMPCA SNAPC4 INPP5E SEC16A
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	LOC101928722 MIR4674 QSOX2 LOC105376323 LOC107987142 SNAPC4 INPP5E SEC16A CARD9 SDCCAG3 CCDC187 DKFZP434A062 PMPCA MIR4673 C9orf69 NALT1 ESP33 KCNT1 GPSM1 LHX3 CAMSAP1 NACC2 DNLZ C9orf163 UBAC1 NOTCH1

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