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See other PMPCA CNV Assays ›
Gene Symbol
PMPCA
Assay Reference Genome
Location

Chr.9:136418653 on build GRCh38
Cytoband
9q34.3
Assay ID Hs02778893_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

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 Exon 9 - Intron 9
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
AK296617.1
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
nsv831760 Chr.9:136366430 - 136480358 on Build GRCh38 Loss INPP5E PMPCA CARD9 SDCCAG3 SEC16A SNAPC4
nsv509333 Chr.9:136346749 - 136440541 on Build GRCh38 Insertion INPP5E PMPCA CARD9 DNLZ GPSM1 SDCCAG3 SEC16A SNAPC4
nsv6766 Chr.9:136414215 - 136448876 on Build GRCh38 Insertion INPP5E PMPCA SEC16A
nsv469918 Chr.9:136359865 - 137173890 on Build GRCh38 Loss MIR4673 NOTCH1 C9orf142 CARD9 NALT1 GRIN1 C8G HSPC324 PMPCA FUT7 RABL6 TMEM210 SNORA17A LCN10 MIR4292 LOC101930307 LINC01451 SEC16A LCN8 TRAF2 LCN15 FBXW5 MIR4674 EGFL7 SNAPC4 LCN12 DNLZ SNHG7 PHPT1 EDF1 MAN1B1 MIR6722 CCDC183-AS1 SAPCD2 CCDC183 ABCA2 MIR4479 MAMDC4 INPP5E NPDC1 PTGDS LCN6 MIR3621 MAN1B1-AS1 C9orf163 UAP1L1 C9orf172 MIR126 AGPAT2 LOC100128593 FAM69B DPP7 SNORA17B CLIC3 TMEM141 LRRC26 ENTPD2 LCNL1 SDCCAG3 PRR31 C9orf139
esv2759720 Chr.9:136356377 - 136932033 on Build GRCh38 Loss MIR4479 MAMDC4 INPP5E MIR4673 NOTCH1 CARD9 NALT1 HSPC324 LCN6 PMPCA RABL6 SNORA17A LCN10 MIR4292 LINC01451 SEC16A C9orf163 LCN8 TRAF2 C9orf172 MIR126 LCN15 AGPAT2 LOC100128593 MIR4674 EGFL7 SNAPC4 FAM69B SNORA17B TMEM141 DNLZ SNHG7 PHPT1 EDF1 MIR6722 CCDC183-AS1 GPSM1 SDCCAG3 CCDC183
nsv825173 Chr.9:135892081 - 136495763 on Build GRCh38 Gain INPP5E DKFZP434A062 NOTCH1 C9orf163 C9orf69 CARD9 UBAC1 LHX3 CCDC187 SNAPC4 PMPCA ESP33 DNLZ QSOX2 CAMSAP1 LOC107987142 LOC105376323 GPSM1 SDCCAG3 LOC101928722 NACC2 SEC16A
nsv615963 Chr.9:136386314 - 136474501 on Build GRCh38 Loss INPP5E PMPCA SDCCAG3 SEC16A SNAPC4
nsv951202 Chr.9:135770355 - 136558248 on Build GRCh38 Deletion INPP5E MIR4673 NOTCH1 CARD9 NALT1 KCNT1 PMPCA ESP33 QSOX2 CAMSAP1 LOC101928722 NACC2 SEC16A DKFZP434A062 C9orf163 C9orf69 UBAC1 LHX3 MIR4674 CCDC187 SNAPC4 DNLZ LOC107987142 LOC105376323 GPSM1 SDCCAG3

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Function(s) Process(es)


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