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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143917134 on build GRCh38
Cytoband
8q24.3
Assay ID Hs02079442_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 12817 NP_000436.2
NM_201378.3 32 12702 NP_958780.1
NM_201379.2 32 12770 NP_958781.1
NM_201380.3 32 13268 NP_958782.1
NM_201381.2 32 12665 NP_958783.1
NM_201382.3 32 12755 NP_958784.1
NM_201383.2 32 12708 NP_958785.1
NM_201384.2 32 12816 NP_958786.1
XM_005250976.3 33 13310 XP_005251033.1
XM_005250978.3 33 12835 XP_005251035.1
XM_005250979.4 33 12794 XP_005251036.1
XM_005250980.4 33 12879 XP_005251037.1
XM_005250981.3 33 12716 XP_005251038.1
XM_005250982.3 33 12709 XP_005251039.1
XM_005250983.2 32 12633 XP_005251040.1
XM_005250984.4 33 12698 XP_005251041.1
XM_006716588.3 34 12887 XP_006716651.1
XM_006716589.2 33 12648 XP_006716652.1
XM_006716590.3 33 12758 XP_006716653.1
XM_011517130.2 33 12823 XP_011515432.1
XM_011517131.2 32 12742 XP_011515433.1
XM_011517132.2 32 9450 XP_011515434.1
AY480044.1 32 12774 AAR95677.1
AY480045.1 32 12645 AAR95678.1
AY480046.1 32 12770 AAR95679.1
AY480047.1 32 13268 AAR95680.1
AY480048.1 32 12665 AAR95681.1
AY480049.1 32 12694 AAR95682.1
AY480050.1 32 12708 AAR95683.1
AY480051.1 32 12816 AAR95684.1
BC007597.1 1 2133 AAH07597.1
U53204.1 33 12819 AAB05427.1
Z36817.1 1 229

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv824795 Chr.8:143915993 - 143917638 on Build GRCh38 Gain PLEC
nsv470249 Chr.8:143889098 - 144519234 on Build GRCh38 Loss MIR6849 LOC101928902 MIR1234 PLEC KIFC2 MIR6893 MIR6848 MIR6847 PARP10 BOP1 GPT WDR97 GPAA1 RECQL4 MROH1 SPATC1 SCRT1 ADCK5 FOXH1 MIR6846 SHARPIN LOC101928953 TONSL-AS1 HSF1 MIR939 EXOSC4 HGH1 TMEM249 MAF1 CYHR1 SLC52A2 SLC39A4 MFSD3 TONSL CPSF1 DGAT1 CYC1 FBXL6 SCX VPS28 GRINA SMPD5 OPLAH MIR661 PPP1R16A LRRC14 MIR7112
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss MIR6849 LOC101928902 MIR1234 PLEC KIFC2 MIR6893 MIR6848 MIR6847 PARP10 BOP1 GPT WDR97 GPAA1 RECQL4 MROH1 SPATC1 SCRT1 ADCK5 FOXH1 MIR6846 SHARPIN LOC101928953 TONSL-AS1 HSF1 MIR939 EXOSC4 HGH1 TMEM249 MAF1 CYHR1 SLC52A2 SLC39A4 MFSD3 TONSL CPSF1 DGAT1 CYC1 FBXL6 SCX VPS28 GRINA SMPD5 OPLAH MIR661 PPP1R16A LRRC14 MIR7112
nsv612904 Chr.8:143916360 - 143920044 on Build GRCh38 Loss PLEC
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss PLEC HGH1 MAF1 MIR6847 PARP10 WDR97 GPAA1 CYC1 EPPK1 MROH1 GRINA SMPD5 SPATC1 OPLAH MIR661 MIR6846 SHARPIN EXOSC4
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion PLEC MAF1 MIR6847 PARP10 WDR97 GPAA1 CYC1 EPPK1 GRINA SMPD5 SPATC1 OPLAH MIR661 MIR6846 SHARPIN EXOSC4
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion PUF60 PLEC LOC642574 MIR6847 PARP10 SCRIB NRBP2 MIR6845 EPPK1 GRINA SMPD5 SPATC1 OPLAH MIR937 MIR661 MIR6846 EXOSC4
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain PLEC MAF1 MIR6847 PARP10 WDR97 GPAA1 CYC1 GRINA SMPD5 SPATC1 OPLAH MIR661 MIR6846 SHARPIN EXOSC4

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