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

Chr.9:136412240 on build GRCh38
Cytoband
9q34.3
Assay ID Hs02500857_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 Exon 2 - Intron 2
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 SEC16A CARD9 SDCCAG3 INPP5E PMPCA SNAPC4
nsv509333 Chr.9:136346749 - 136440541 on Build GRCh38 Insertion GPSM1 SEC16A CARD9 SDCCAG3 DNLZ INPP5E PMPCA SNAPC4
nsv469918 Chr.9:136359865 - 137173890 on Build GRCh38 Loss NALT1 MIR6722 LCNL1 MIR126 NOTCH1 LINC01451 SNORA17B PRR31 TMEM210 AGPAT2 C8G SNORA17A SNAPC4 MIR4674 MIR4673 SEC16A LOC101930307 CARD9 EGFL7 DPP7 MIR3621 MIR4479 DNLZ LOC100128593 UAP1L1 PHPT1 FBXW5 ENTPD2 SDCCAG3 INPP5E EDF1 C9orf163 MAMDC4 LRRC26 MAN1B1 SAPCD2 SNHG7 LCN8 C9orf139 C9orf142 PMPCA CCDC183-AS1 HSPC324 CLIC3 MAN1B1-AS1 GRIN1 FUT7 TRAF2 LCN10 NPDC1 MIR4292 PTGDS CCDC183 C9orf172 ABCA2 LCN15 TMEM141 LCN6 RABL6 FAM69B LCN12
esv2759720 Chr.9:136356377 - 136932033 on Build GRCh38 Loss MAMDC4 SNHG7 NALT1 MIR6722 LCN8 PMPCA CCDC183-AS1 MIR126 NOTCH1 LINC01451 HSPC324 SNORA17B AGPAT2 SNORA17A TRAF2 SNAPC4 MIR4674 MIR4673 LCN10 GPSM1 SEC16A MIR4292 CARD9 CCDC183 EGFL7 C9orf172 MIR4479 DNLZ LOC100128593 LCN15 TMEM141 PHPT1 LCN6 RABL6 FAM69B SDCCAG3 INPP5E EDF1 C9orf163
nsv825173 Chr.9:135892081 - 136495763 on Build GRCh38 Gain GPSM1 SEC16A C9orf69 LOC101928722 CARD9 NACC2 ESP33 CAMSAP1 DNLZ PMPCA NOTCH1 LOC105376323 SDCCAG3 DKFZP434A062 CCDC187 QSOX2 INPP5E LHX3 SNAPC4 UBAC1 LOC107987142 C9orf163
nsv615963 Chr.9:136386314 - 136474501 on Build GRCh38 Loss SEC16A SDCCAG3 INPP5E PMPCA SNAPC4
nsv951202 Chr.9:135770355 - 136558248 on Build GRCh38 Deletion C9orf69 NACC2 NALT1 CAMSAP1 PMPCA NOTCH1 LOC105376323 DKFZP434A062 KCNT1 SNAPC4 MIR4674 MIR4673 UBAC1 GPSM1 SEC16A LOC101928722 CARD9 ESP33 DNLZ SDCCAG3 CCDC187 QSOX2 INPP5E LHX3 LOC107987142 C9orf163

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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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