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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143921130 on build GRCh38
Cytoband
8q24.3
Assay ID Hs00855392_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 8821 NP_000436.2
NM_201378.3 32 8706 NP_958780.1
NM_201379.2 32 8774 NP_958781.1
NM_201380.3 32 9272 NP_958782.1
NM_201381.2 32 8669 NP_958783.1
NM_201382.3 32 8759 NP_958784.1
NM_201383.2 32 8712 NP_958785.1
NM_201384.2 32 8820 NP_958786.1
XM_005250976.3 33 9314 XP_005251033.1
XM_005250978.3 33 8839 XP_005251035.1
XM_005250979.4 33 8798 XP_005251036.1
XM_005250980.4 33 8883 XP_005251037.1
XM_005250981.3 33 8720 XP_005251038.1
XM_005250982.3 33 8713 XP_005251039.1
XM_005250983.2 32 8637 XP_005251040.1
XM_005250984.4 33 8702 XP_005251041.1
XM_006716588.3 34 8891 XP_006716651.1
XM_006716589.2 33 8652 XP_006716652.1
XM_006716590.3 33 8762 XP_006716653.1
XM_011517130.2 33 8827 XP_011515432.1
XM_011517131.2 32 8746 XP_011515433.1
XM_011517132.2 32 5454 XP_011515434.1
AY480044.1 32 8778 AAR95677.1
AY480045.1 32 8649 AAR95678.1
AY480046.1 32 8774 AAR95679.1
AY480047.1 32 9272 AAR95680.1
AY480048.1 32 8669 AAR95681.1
AY480049.1 32 8698 AAR95682.1
AY480050.1 32 8712 AAR95683.1
AY480051.1 32 8820 AAR95684.1
U53204.1 33 8823 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 LRRC14 FOXH1 SLC52A2 MIR1234 PLEC KIFC2 SPATC1 PPP1R16A SHARPIN MFSD3 LOC101928902 SCX MROH1 BOP1 GPAA1 MIR661 MIR6847 VPS28 EXOSC4 GPT LOC101928953 CYC1 TONSL-AS1 DGAT1 GRINA MAF1 MIR6848 FBXL6 TMEM249 WDR97 MIR6849 MIR6846 SCRT1 HSF1 TONSL SMPD5 MIR6893 PARP10 CPSF1 SLC39A4 ADCK5 CYHR1 RECQL4 HGH1 OPLAH MIR7112 MIR939
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss LRRC14 FOXH1 SLC52A2 MIR1234 PLEC KIFC2 SPATC1 PPP1R16A SHARPIN MFSD3 LOC101928902 SCX MROH1 BOP1 GPAA1 MIR661 MIR6847 VPS28 EXOSC4 GPT LOC101928953 CYC1 TONSL-AS1 DGAT1 GRINA MAF1 MIR6848 FBXL6 TMEM249 WDR97 MIR6849 MIR6846 SCRT1 HSF1 TONSL SMPD5 MIR6893 PARP10 CPSF1 SLC39A4 ADCK5 CYHR1 RECQL4 HGH1 OPLAH MIR7112 MIR939
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss CYC1 GRINA MAF1 PLEC SPATC1 WDR97 MIR6846 SHARPIN SMPD5 PARP10 MROH1 GPAA1 EPPK1 MIR661 MIR6847 HGH1 OPLAH EXOSC4
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion CYC1 GRINA MAF1 PLEC SPATC1 WDR97 MIR6846 SHARPIN SMPD5 PARP10 GPAA1 EPPK1 MIR661 MIR6847 OPLAH EXOSC4
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion MIR6845 PUF60 NRBP2 SCRIB GRINA PLEC SPATC1 MIR6846 MIR937 SMPD5 PARP10 LOC642574 EPPK1 MIR661 MIR6847 OPLAH EXOSC4
nsv612911 Chr.8:143920044 - 143926863 on Build GRCh38 Gain PLEC
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain SMPD5 PARP10 GPAA1 CYC1 MIR661 MIR6847 GRINA OPLAH PLEC SPATC1 EXOSC4 MIR6846
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain CYC1 GRINA MAF1 PLEC SPATC1 WDR97 MIR6846 SHARPIN SMPD5 PARP10 GPAA1 MIR661 MIR6847 OPLAH EXOSC4
nsv612906 Chr.8:143917935 - 144090784 on Build GRCh38 Loss SMPD5 PARP10 GPAA1 MIR661 MIR6847 GRINA OPLAH PLEC SPATC1 EXOSC4 MIR6846

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