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

Chr.9:136416362 on build GRCh38
Cytoband
9q34.3
Assay ID Hs02081822_cn
Size
Availability Made To Order
Catalog # 4400291
Price 475.00
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441.65
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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 6 - Intron 6
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 1 296
AK296617.1
AK299304.1 6 632
AK307206.1 5 530
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 SDCCAG3 PMPCA SNAPC4 INPP5E
nsv509333 Chr.9:136346749 - 136440541 on Build GRCh38 Insertion CARD9 SEC16A SDCCAG3 PMPCA SNAPC4 INPP5E DNLZ GPSM1
nsv6766 Chr.9:136414215 - 136448876 on Build GRCh38 Insertion SEC16A PMPCA INPP5E
nsv469918 Chr.9:136359865 - 137173890 on Build GRCh38 Loss LINC01451 LCN15 MIR3621 GRIN1 MIR6722 RABL6 MAN1B1 PMPCA SNHG7 UAP1L1 CCDC183 FBXW5 DNLZ EDF1 PHPT1 SEC16A NPDC1 TMEM210 MIR4673 ENTPD2 C9orf142 AGPAT2 FAM69B ABCA2 CARD9 MIR4674 EGFL7 SNORA17B CCDC183-AS1 FUT7 DPP7 LCN6 INPP5E MIR126 LOC100128593 CLIC3 LOC101930307 SNAPC4 SNORA17A LCNL1 MAN1B1-AS1 LRRC26 NOTCH1 MAMDC4 C9orf163 LCN10 TRAF2 C9orf139 MIR4292 LCN12 PTGDS TMEM141 HSPC324 SDCCAG3 SAPCD2 NALT1 C8G PRR31 MIR4479 C9orf172 LCN8
esv2759720 Chr.9:136356377 - 136932033 on Build GRCh38 Loss LINC01451 LCN15 MIR6722 LCN6 RABL6 PMPCA SNHG7 INPP5E CCDC183 MIR126 LOC100128593 DNLZ EDF1 PHPT1 SEC16A SNAPC4 SNORA17A GPSM1 NOTCH1 MIR4673 MAMDC4 C9orf163 LCN10 AGPAT2 FAM69B TRAF2 MIR4292 TMEM141 CARD9 HSPC324 MIR4674 EGFL7 SDCCAG3 SNORA17B NALT1 CCDC183-AS1 MIR4479 C9orf172 LCN8
nsv825173 Chr.9:135892081 - 136495763 on Build GRCh38 Gain LOC107987142 LOC105376323 C9orf163 QSOX2 PMPCA ESP33 INPP5E DNLZ CARD9 LHX3 CCDC187 SEC16A NACC2 SDCCAG3 SNAPC4 DKFZP434A062 C9orf69 UBAC1 LOC101928722 CAMSAP1 GPSM1 NOTCH1
nsv615963 Chr.9:136386314 - 136474501 on Build GRCh38 Loss SEC16A SDCCAG3 PMPCA SNAPC4 INPP5E
nsv951202 Chr.9:135770355 - 136558248 on Build GRCh38 Deletion LOC107987142 LOC105376323 QSOX2 PMPCA ESP33 INPP5E DNLZ LHX3 CCDC187 SEC16A SNAPC4 DKFZP434A062 C9orf69 KCNT1 GPSM1 NOTCH1 MIR4673 C9orf163 CARD9 MIR4674 NACC2 SDCCAG3 NALT1 UBAC1 LOC101928722 CAMSAP1

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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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