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

Chr.9:136417213 on build GRCh38
Cytoband
9q34.3
Assay ID Hs02580822_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:

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