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

Chr.9:136412832 on build GRCh38
Cytoband
9q34.3
Assay ID Hs01328166_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 Intron 3 - Exon 4
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_017014543.1 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
nsv825174 Chr.9:136401929 - 136413005 on Build GRCh38 Gain SDCCAG3 PMPCA
nsv831760 Chr.9:136366430 - 136480358 on Build GRCh38 Loss CARD9 SNAPC4 INPP5E SDCCAG3 SEC16A PMPCA
nsv509333 Chr.9:136346749 - 136440541 on Build GRCh38 Insertion DNLZ CARD9 SNAPC4 INPP5E SDCCAG3 SEC16A PMPCA GPSM1
nsv469918 Chr.9:136359865 - 137173890 on Build GRCh38 Loss DPP7 DNLZ CARD9 C9orf139 MIR4674 MAMDC4 MAN1B1-AS1 FAM69B LCN15 EGFL7 TRAF2 SNAPC4 HSPC324 SNORA17A TMEM210 CLIC3 C9orf142 TMEM141 LCN10 SNHG7 PRR31 MIR6722 LOC100128593 LCNL1 LRRC26 INPP5E MIR4292 PHPT1 NOTCH1 UAP1L1 MIR4479 RABL6 GRIN1 C9orf163 SNORA17B CCDC183 EDF1 CCDC183-AS1 MAN1B1 MIR4673 LCN12 ENTPD2 LOC101930307 MIR126 NPDC1 AGPAT2 SAPCD2 LCN8 SDCCAG3 SEC16A NALT1 PMPCA ABCA2 FBXW5 PTGDS FUT7 LINC01451 LCN6 MIR3621 C8G C9orf172
esv2759720 Chr.9:136356377 - 136932033 on Build GRCh38 Loss NOTCH1 DNLZ MIR4479 CARD9 RABL6 C9orf163 SNORA17B CCDC183 EDF1 MIR4674 MAMDC4 FAM69B CCDC183-AS1 LCN15 EGFL7 MIR4673 TRAF2 SNAPC4 HSPC324 SNORA17A MIR126 TMEM141 AGPAT2 LCN10 LCN8 SDCCAG3 SNHG7 SEC16A NALT1 PMPCA MIR6722 LINC01451 LOC100128593 LCN6 INPP5E MIR4292 C9orf172 GPSM1 PHPT1
nsv825173 Chr.9:135892081 - 136495763 on Build GRCh38 Gain LOC105376323 NOTCH1 LOC107987142 DNLZ CARD9 C9orf163 QSOX2 C9orf69 SDCCAG3 SEC16A PMPCA DKFZP434A062 LHX3 SNAPC4 ESP33 NACC2 INPP5E CCDC187 UBAC1 LOC101928722 GPSM1 CAMSAP1
nsv615963 Chr.9:136386314 - 136474501 on Build GRCh38 Loss SNAPC4 INPP5E SDCCAG3 SEC16A PMPCA
nsv951202 Chr.9:135770355 - 136558248 on Build GRCh38 Deletion LOC105376323 NOTCH1 LOC107987142 DNLZ CARD9 C9orf163 C9orf69 MIR4674 DKFZP434A062 MIR4673 SNAPC4 LOC101928722 CAMSAP1 KCNT1 QSOX2 SDCCAG3 SEC16A NALT1 PMPCA LHX3 ESP33 NACC2 INPP5E CCDC187 UBAC1 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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