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

Chr.8:143920791 on build GRCh38
Cytoband
8q24.3
Assay ID Hs00868682_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 5339

Gene Name:

 plectin

Gene Aliases:

 EBS1, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, PCN, PLEC1, PLEC1b, PLTN

Location:

 Chr.8:143915147-143976800 on Build GRCh38

Assay Gene Location:

 Within Exon 43
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PLEC NM_000445.4 33 9160 NP_000436.2
NM_201378.3 32 9045 NP_958780.1
NM_201379.2 32 9113 NP_958781.1
NM_201380.3 32 9611 NP_958782.1
NM_201381.2 32 9008 NP_958783.1
NM_201382.3 32 9098 NP_958784.1
NM_201383.2 32 9051 NP_958785.1
NM_201384.2 32 9159 NP_958786.1
XM_005250976.3 33 9653 XP_005251033.1
XM_005250978.3 33 9178 XP_005251035.1
XM_005250979.4 33 9137 XP_005251036.1
XM_005250980.4 33 9222 XP_005251037.1
XM_005250981.3 33 9059 XP_005251038.1
XM_005250982.3 33 9052 XP_005251039.1
XM_005250983.2 32 8976 XP_005251040.1
XM_005250984.4 33 9041 XP_005251041.1
XM_006716588.3 34 9230 XP_006716651.1
XM_006716589.2 33 8991 XP_006716652.1
XM_006716590.3 33 9101 XP_006716653.1
XM_011517130.2 33 9166 XP_011515432.1
XM_011517131.2 32 9085 XP_011515433.1
XM_011517132.2 32 5793 XP_011515434.1
AY480044.1 32 9117 AAR95677.1
AY480045.1 32 8988 AAR95678.1
AY480046.1 32 9113 AAR95679.1
AY480047.1 32 9611 AAR95680.1
AY480048.1 32 9008 AAR95681.1
AY480049.1 32 9037 AAR95682.1
AY480050.1 32 9051 AAR95683.1
AY480051.1 32 9159 AAR95684.1
U53204.1 33 9162 AAB05427.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv470249 Chr.8:143889098 - 144519234 on Build GRCh38 Loss MIR1234 MROH1 GPAA1 SHARPIN FBXL6 LRRC14 CPSF1 FOXH1 SLC52A2 PPP1R16A TONSL HGH1 MIR6893 MFSD3 CYHR1 DGAT1 MIR939 SCRT1 KIFC2 CYC1 MIR6846 LOC101928902 SLC39A4 VPS28 BOP1 TONSL-AS1 PLEC SPATC1 TMEM249 ADCK5 HSF1 MIR7112 EXOSC4 MIR6849 SCX PARP10 OPLAH GRINA GPT MIR661 RECQL4 SMPD5 MIR6847 WDR97 LOC101928953 MIR6848 MAF1
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss MIR1234 MROH1 GPAA1 SHARPIN FBXL6 LRRC14 CPSF1 FOXH1 SLC52A2 PPP1R16A TONSL HGH1 MIR6893 MFSD3 CYHR1 DGAT1 MIR939 SCRT1 KIFC2 CYC1 MIR6846 LOC101928902 SLC39A4 VPS28 BOP1 TONSL-AS1 PLEC SPATC1 TMEM249 ADCK5 HSF1 MIR7112 EXOSC4 MIR6849 SCX PARP10 OPLAH GRINA GPT MIR661 RECQL4 SMPD5 MIR6847 WDR97 LOC101928953 MIR6848 MAF1
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss MROH1 GPAA1 SHARPIN PLEC SPATC1 EPPK1 EXOSC4 PARP10 OPLAH HGH1 GRINA MIR661 SMPD5 MIR6847 WDR97 CYC1 MIR6846 MAF1
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion GPAA1 SHARPIN PLEC SPATC1 EPPK1 EXOSC4 PARP10 OPLAH GRINA MIR661 SMPD5 MIR6847 WDR97 CYC1 MIR6846 MAF1
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion MIR937 PLEC SPATC1 SCRIB LOC642574 EPPK1 EXOSC4 PARP10 OPLAH GRINA MIR661 SMPD5 MIR6845 MIR6847 MIR6846 NRBP2 PUF60
nsv612911 Chr.8:143920044 - 143926863 on Build GRCh38 Gain PLEC
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain PARP10 OPLAH GRINA GPAA1 MIR661 SMPD5 PLEC MIR6847 SPATC1 CYC1 MIR6846 EXOSC4
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain GPAA1 SHARPIN PLEC SPATC1 EXOSC4 PARP10 OPLAH GRINA MIR661 SMPD5 MIR6847 WDR97 CYC1 MIR6846 MAF1
nsv612906 Chr.8:143917935 - 144090784 on Build GRCh38 Loss PARP10 OPLAH GRINA GPAA1 MIR661 SMPD5 PLEC MIR6847 SPATC1 MIR6846 EXOSC4

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