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

Chr.9:136418034 on build GRCh38
Cytoband
9q34.3
Assay ID Hs02318077_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 Intron 7 - Exon 8
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 SEC16A SDCCAG3 INPP5E SNAPC4 PMPCA CARD9
nsv509333 Chr.9:136346749 - 136440541 on Build GRCh38 Insertion SEC16A SDCCAG3 INPP5E SNAPC4 DNLZ PMPCA CARD9 GPSM1
nsv6766 Chr.9:136414215 - 136448876 on Build GRCh38 Insertion SEC16A INPP5E PMPCA
nsv469918 Chr.9:136359865 - 137173890 on Build GRCh38 Loss SAPCD2 MAN1B1 EDF1 FBXW5 MIR4673 LOC100128593 NOTCH1 TMEM210 LCN10 TRAF2 MIR126 ABCA2 SNAPC4 TMEM141 DPP7 EGFL7 NPDC1 SEC16A C9orf139 MIR4674 LOC101930307 HSPC324 LCN12 MIR6722 FAM69B C9orf142 AGPAT2 PTGDS LCN8 UAP1L1 LCN15 SNORA17B PRR31 MIR4292 SDCCAG3 PMPCA FUT7 SNHG7 MAMDC4 CLIC3 MIR4479 C9orf172 CCDC183-AS1 PHPT1 RABL6 CCDC183 LCN6 C8G LCNL1 MAN1B1-AS1 SNORA17A LRRC26 C9orf163 INPP5E NALT1 MIR3621 DNLZ ENTPD2 LINC01451 GRIN1 CARD9
esv2759720 Chr.9:136356377 - 136932033 on Build GRCh38 Loss EDF1 MIR4292 MIR4673 SDCCAG3 LOC100128593 PMPCA SNHG7 NOTCH1 MAMDC4 LCN10 TRAF2 MIR126 SNAPC4 MIR4479 TMEM141 C9orf172 CCDC183-AS1 PHPT1 GPSM1 EGFL7 RABL6 SEC16A CCDC183 LCN6 MIR4674 HSPC324 SNORA17A MIR6722 FAM69B AGPAT2 LCN8 C9orf163 INPP5E NALT1 LCN15 DNLZ SNORA17B LINC01451 CARD9
nsv825173 Chr.9:135892081 - 136495763 on Build GRCh38 Gain UBAC1 SEC16A SDCCAG3 DKFZP434A062 QSOX2 PMPCA LOC107987142 NOTCH1 CCDC187 LOC105376323 LHX3 NACC2 C9orf69 C9orf163 INPP5E SNAPC4 CAMSAP1 DNLZ ESP33 CARD9 LOC101928722 GPSM1
nsv615963 Chr.9:136386314 - 136474501 on Build GRCh38 Loss SEC16A SDCCAG3 INPP5E SNAPC4 PMPCA
nsv951202 Chr.9:135770355 - 136558248 on Build GRCh38 Deletion MIR4673 SDCCAG3 DKFZP434A062 PMPCA NOTCH1 CCDC187 LHX3 NACC2 C9orf69 KCNT1 SNAPC4 CAMSAP1 ESP33 GPSM1 UBAC1 SEC16A MIR4674 QSOX2 LOC107987142 LOC105376323 C9orf163 INPP5E NALT1 DNLZ CARD9 LOC101928722

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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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