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

Chr.9:136418842 on build GRCh38
Cytoband
9q34.3
Assay ID Hs02061058_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 9 - Exon 10
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
BC004342.1 AAH04342.1
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 CARD9 SDCCAG3 PMPCA SNAPC4 SEC16A
nsv509333 Chr.9:136346749 - 136440541 on Build GRCh38 Insertion INPP5E CARD9 GPSM1 SDCCAG3 DNLZ PMPCA SNAPC4 SEC16A
nsv6766 Chr.9:136414215 - 136448876 on Build GRCh38 Insertion INPP5E PMPCA SEC16A
nsv469918 Chr.9:136359865 - 137173890 on Build GRCh38 Loss MIR4674 FAM69B DNLZ SNORA17A MAN1B1 C9orf172 MIR4479 NOTCH1 LCNL1 MIR6722 SNAPC4 PTGDS LCN6 SEC16A LINC01451 MAMDC4 GRIN1 LCN8 NALT1 LOC101930307 SNORA17B SDCCAG3 INPP5E NPDC1 EGFL7 ENTPD2 TMEM141 LCN12 CCDC183-AS1 C9orf163 MIR3621 HSPC324 FUT7 ABCA2 AGPAT2 CARD9 UAP1L1 MIR4673 LCN10 SNHG7 MAN1B1-AS1 CCDC183 C9orf142 LOC100128593 SAPCD2 LCN15 DPP7 CLIC3 MIR4292 TRAF2 EDF1 C8G C9orf139 PRR31 MIR126 TMEM210 LRRC26 PMPCA PHPT1 RABL6 FBXW5
esv2759720 Chr.9:136356377 - 136932033 on Build GRCh38 Loss MIR4674 HSPC324 FAM69B AGPAT2 CARD9 GPSM1 DNLZ MIR4673 LCN10 SNORA17A SNHG7 C9orf172 MIR4479 NOTCH1 CCDC183 MIR6722 LOC100128593 SNAPC4 LCN6 SEC16A LINC01451 MAMDC4 LCN8 LCN15 NALT1 SNORA17B SDCCAG3 MIR4292 TRAF2 EDF1 MIR126 INPP5E EGFL7 TMEM141 CCDC183-AS1 C9orf163 PMPCA PHPT1 RABL6
nsv825173 Chr.9:135892081 - 136495763 on Build GRCh38 Gain C9orf69 QSOX2 NACC2 CARD9 GPSM1 SDCCAG3 DNLZ DKFZP434A062 LOC107987142 INPP5E NOTCH1 LOC101928722 CAMSAP1 LOC105376323 C9orf163 PMPCA UBAC1 ESP33 SNAPC4 SEC16A LHX3 CCDC187
nsv615963 Chr.9:136386314 - 136474501 on Build GRCh38 Loss INPP5E SDCCAG3 PMPCA SNAPC4 SEC16A
nsv951202 Chr.9:135770355 - 136558248 on Build GRCh38 Deletion MIR4674 QSOX2 NACC2 CARD9 GPSM1 DNLZ KCNT1 MIR4673 DKFZP434A062 NOTCH1 LOC101928722 LOC105376323 UBAC1 ESP33 SNAPC4 SEC16A LHX3 NALT1 C9orf69 SDCCAG3 LOC107987142 INPP5E CAMSAP1 C9orf163 PMPCA CCDC187

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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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