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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143916940 on build GRCh38
Cytoband
8q24.3
Assay ID Hs02594988_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 13011 NP_000436.2
NM_201378.3 32 12896 NP_958780.1
NM_201379.2 32 12964 NP_958781.1
NM_201380.3 32 13462 NP_958782.1
NM_201381.2 32 12859 NP_958783.1
NM_201382.3 32 12949 NP_958784.1
NM_201383.2 32 12902 NP_958785.1
NM_201384.2 32 13010 NP_958786.1
XM_005250976.3 33 13504 XP_005251033.1
XM_005250978.3 33 13029 XP_005251035.1
XM_005250979.4 33 12988 XP_005251036.1
XM_005250980.4 33 13073 XP_005251037.1
XM_005250981.3 33 12910 XP_005251038.1
XM_005250982.3 33 12903 XP_005251039.1
XM_005250983.2 32 12827 XP_005251040.1
XM_005250984.4 33 12892 XP_005251041.1
XM_006716588.3 34 13081 XP_006716651.1
XM_006716589.2 33 12842 XP_006716652.1
XM_006716590.3 33 12952 XP_006716653.1
XM_011517130.2 33 13017 XP_011515432.1
XM_011517131.2 32 12936 XP_011515433.1
XM_011517132.2 32 9644 XP_011515434.1
AY480044.1 32 12968 AAR95677.1
AY480045.1 32 12839 AAR95678.1
AY480046.1 32 12964 AAR95679.1
AY480047.1 32 13462 AAR95680.1
AY480048.1 32 12859 AAR95681.1
AY480049.1 32 12888 AAR95682.1
AY480050.1 32 12902 AAR95683.1
AY480051.1 32 13010 AAR95684.1
BC007597.1 1 2327 AAH07597.1
U53204.1 33 13013 AAB05427.1
Z36817.1

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

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