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

Chr.9:136416978 on build GRCh38
Cytoband
9q34.3
Assay ID Hs00322281_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 6 - Exon 7
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 1 912
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 PMPCA SNAPC4 SDCCAG3 SEC16A CARD9 INPP5E
nsv509333 Chr.9:136346749 - 136440541 on Build GRCh38 Insertion DNLZ PMPCA SNAPC4 SDCCAG3 SEC16A CARD9 GPSM1 INPP5E
nsv6766 Chr.9:136414215 - 136448876 on Build GRCh38 Insertion PMPCA SEC16A INPP5E
nsv469918 Chr.9:136359865 - 137173890 on Build GRCh38 Loss HSPC324 MIR4674 C9orf163 MAMDC4 UAP1L1 CARD9 LCN8 MIR6722 NALT1 LCN6 LOC101930307 GRIN1 SNORA17B LCN10 EDF1 DPP7 TMEM210 PTGDS SNHG7 SNAPC4 LCNL1 C8G C9orf139 FBXW5 MAN1B1-AS1 MIR4292 FUT7 AGPAT2 ABCA2 MIR4673 EGFL7 C9orf172 MIR4479 LRRC26 FAM69B LCN15 NOTCH1 CCDC183-AS1 C9orf142 MAN1B1 NPDC1 SEC16A CCDC183 SNORA17A PHPT1 LCN12 ENTPD2 DNLZ TMEM141 LINC01451 SDCCAG3 LOC100128593 TRAF2 RABL6 INPP5E SAPCD2 PRR31 PMPCA MIR126 MIR3621 CLIC3
esv2759720 Chr.9:136356377 - 136932033 on Build GRCh38 Loss HSPC324 MIR4674 C9orf163 C9orf172 MAMDC4 MIR4479 CARD9 LCN8 MIR6722 NALT1 LCN6 FAM69B LCN15 NOTCH1 CCDC183-AS1 SNORA17B LCN10 EDF1 SEC16A CCDC183 SNORA17A PHPT1 DNLZ SNHG7 SNAPC4 TMEM141 LINC01451 SDCCAG3 LOC100128593 TRAF2 RABL6 INPP5E MIR4292 AGPAT2 MIR4673 PMPCA MIR126 GPSM1 EGFL7
nsv825173 Chr.9:135892081 - 136495763 on Build GRCh38 Gain DKFZP434A062 LOC105376323 LOC107987142 C9orf163 DNLZ SNAPC4 QSOX2 CAMSAP1 SDCCAG3 LOC101928722 ESP33 CARD9 CCDC187 INPP5E LHX3 NOTCH1 UBAC1 PMPCA C9orf69 NACC2 SEC16A GPSM1
nsv615963 Chr.9:136386314 - 136474501 on Build GRCh38 Loss PMPCA SNAPC4 SDCCAG3 SEC16A INPP5E
nsv951202 Chr.9:135770355 - 136558248 on Build GRCh38 Deletion MIR4674 DKFZP434A062 LOC107987142 C9orf163 CAMSAP1 LOC101928722 ESP33 CARD9 CCDC187 NALT1 NOTCH1 C9orf69 NACC2 SEC16A KCNT1 LOC105376323 DNLZ SNAPC4 QSOX2 SDCCAG3 INPP5E LHX3 UBAC1 MIR4673 PMPCA GPSM1

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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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