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

Chr.9:136414604 on build GRCh38
Cytoband
9q34.3
Assay ID Hs00559458_cn
Size
Availability Made To Order
Catalog # 4400291
Price 4,505.00
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4505.0
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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:

 Within Exon 5
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 4 418 XP_016870032.1
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
nsv831760 Chr.9:136366430 - 136480358 on Build GRCh38 Loss CARD9 INPP5E SDCCAG3 PMPCA SNAPC4 SEC16A
nsv509333 Chr.9:136346749 - 136440541 on Build GRCh38 Insertion CARD9 INPP5E SDCCAG3 DNLZ PMPCA SNAPC4 SEC16A GPSM1
nsv6766 Chr.9:136414215 - 136448876 on Build GRCh38 Insertion INPP5E PMPCA SEC16A
nsv469918 Chr.9:136359865 - 137173890 on Build GRCh38 Loss LCN6 MAN1B1 C9orf172 C9orf142 CCDC183 MIR4674 MIR4673 MAMDC4 NALT1 DNLZ SEC16A HSPC324 C9orf139 UAP1L1 C9orf163 C8G LOC101930307 NOTCH1 SNORA17A PRR31 CLIC3 LCN10 CARD9 LCNL1 DPP7 ABCA2 LCN12 MAN1B1-AS1 LINC01451 SDCCAG3 RABL6 EGFL7 FUT7 EDF1 GRIN1 AGPAT2 MIR3621 NPDC1 LCN15 PTGDS SAPCD2 LRRC26 TMEM210 MIR4479 FBXW5 MIR126 MIR4292 LCN8 TRAF2 PMPCA TMEM141 INPP5E CCDC183-AS1 SNORA17B SNHG7 ENTPD2 PHPT1 LOC100128593 SNAPC4 FAM69B MIR6722
esv2759720 Chr.9:136356377 - 136932033 on Build GRCh38 Loss LINC01451 SDCCAG3 LCN6 C9orf172 RABL6 EGFL7 CCDC183 EDF1 MIR4674 MIR4673 MAMDC4 AGPAT2 NALT1 LCN15 DNLZ SEC16A MIR4479 HSPC324 GPSM1 MIR126 MIR4292 C9orf163 LCN8 TRAF2 PMPCA TMEM141 NOTCH1 SNORA17A LCN10 CARD9 INPP5E CCDC183-AS1 SNORA17B SNHG7 PHPT1 LOC100128593 SNAPC4 FAM69B MIR6722
nsv825173 Chr.9:135892081 - 136495763 on Build GRCh38 Gain LHX3 LOC107987142 SDCCAG3 C9orf163 PMPCA LOC105376323 C9orf69 CCDC187 NOTCH1 ESP33 LOC101928722 NACC2 CARD9 INPP5E DNLZ CAMSAP1 QSOX2 SNAPC4 SEC16A DKFZP434A062 GPSM1 UBAC1
nsv615963 Chr.9:136386314 - 136474501 on Build GRCh38 Loss INPP5E SDCCAG3 PMPCA SNAPC4 SEC16A
nsv951202 Chr.9:135770355 - 136558248 on Build GRCh38 Deletion SDCCAG3 C9orf69 CCDC187 MIR4674 MIR4673 NALT1 DNLZ QSOX2 SEC16A DKFZP434A062 GPSM1 UBAC1 LHX3 LOC107987142 C9orf163 PMPCA LOC105376323 NOTCH1 ESP33 LOC101928722 NACC2 CARD9 INPP5E CAMSAP1 SNAPC4 KCNT1

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Function(s) Process(es)


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