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

Chr.8:143919709 on build GRCh38
Cytoband
8q24.3
Assay ID Hs01654166_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 10242 NP_000436.2
NM_201378.3 32 10127 NP_958780.1
NM_201379.2 32 10195 NP_958781.1
NM_201380.3 32 10693 NP_958782.1
NM_201381.2 32 10090 NP_958783.1
NM_201382.3 32 10180 NP_958784.1
NM_201383.2 32 10133 NP_958785.1
NM_201384.2 32 10241 NP_958786.1
XM_005250976.3 33 10735 XP_005251033.1
XM_005250978.3 33 10260 XP_005251035.1
XM_005250979.4 33 10219 XP_005251036.1
XM_005250980.4 33 10304 XP_005251037.1
XM_005250981.3 33 10141 XP_005251038.1
XM_005250982.3 33 10134 XP_005251039.1
XM_005250983.2 32 10058 XP_005251040.1
XM_005250984.4 33 10123 XP_005251041.1
XM_006716588.3 34 10312 XP_006716651.1
XM_006716589.2 33 10073 XP_006716652.1
XM_006716590.3 33 10183 XP_006716653.1
XM_011517130.2 33 10248 XP_011515432.1
XM_011517131.2 32 10167 XP_011515433.1
XM_011517132.2 32 6875 XP_011515434.1
AY480044.1 32 10199 AAR95677.1
AY480045.1 32 10070 AAR95678.1
AY480046.1 32 10195 AAR95679.1
AY480047.1 32 10693 AAR95680.1
AY480048.1 32 10090 AAR95681.1
AY480049.1 32 10119 AAR95682.1
AY480050.1 32 10133 AAR95683.1
AY480051.1 32 10241 AAR95684.1
U53204.1 33 10244 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 CPSF1 SCRT1 MIR939 PARP10 HSF1 MROH1 GRINA LOC101928902 VPS28 GPT SLC39A4 SHARPIN TMEM249 ADCK5 RECQL4 MIR7112 FBXL6 BOP1 MIR6893 PPP1R16A CYHR1 PLEC MIR6847 CYC1 MIR661 SPATC1 MIR6849 SMPD5 WDR97 DGAT1 TONSL MIR6848 LRRC14 SCX MAF1 OPLAH LOC101928953 MIR6846 MFSD3 KIFC2 GPAA1 SLC52A2 MIR1234 HGH1 EXOSC4 FOXH1 TONSL-AS1
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss CPSF1 SCRT1 MIR939 PARP10 HSF1 MROH1 GRINA LOC101928902 VPS28 GPT SLC39A4 SHARPIN TMEM249 ADCK5 RECQL4 MIR7112 FBXL6 BOP1 MIR6893 PPP1R16A CYHR1 PLEC MIR6847 CYC1 MIR661 SPATC1 MIR6849 SMPD5 WDR97 DGAT1 TONSL MIR6848 LRRC14 SCX MAF1 OPLAH LOC101928953 MIR6846 MFSD3 KIFC2 GPAA1 SLC52A2 MIR1234 HGH1 EXOSC4 FOXH1 TONSL-AS1
nsv612904 Chr.8:143916360 - 143920044 on Build GRCh38 Loss PLEC
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss PLEC MIR6847 CYC1 MIR661 SPATC1 SMPD5 WDR97 PARP10 MROH1 GRINA MAF1 OPLAH SHARPIN MIR6846 EPPK1 GPAA1 HGH1 EXOSC4
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion PLEC MIR6847 CYC1 MIR661 SPATC1 SMPD5 WDR97 PARP10 GRINA MAF1 OPLAH SHARPIN MIR6846 EPPK1 GPAA1 EXOSC4
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion PLEC MIR6847 MIR661 SPATC1 SMPD5 PUF60 PARP10 MIR937 GRINA OPLAH NRBP2 MIR6846 SCRIB MIR6845 EPPK1 LOC642574 EXOSC4
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain PLEC MIR6847 MIR6846 CYC1 MIR661 SPATC1 SMPD5 GPAA1 PARP10 EXOSC4 GRINA OPLAH
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain PLEC MIR6847 CYC1 MIR661 SPATC1 SMPD5 WDR97 PARP10 GRINA MAF1 OPLAH SHARPIN MIR6846 GPAA1 EXOSC4
nsv612906 Chr.8:143917935 - 144090784 on Build GRCh38 Loss PLEC MIR6847 MIR6846 MIR661 SPATC1 SMPD5 GPAA1 PARP10 EXOSC4 GRINA OPLAH

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