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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143917338 on build GRCh38
Cytoband
8q24.3
Assay ID Hs00436248_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 12613 NP_000436.2
NM_201378.3 32 12498 NP_958780.1
NM_201379.2 32 12566 NP_958781.1
NM_201380.3 32 13064 NP_958782.1
NM_201381.2 32 12461 NP_958783.1
NM_201382.3 32 12551 NP_958784.1
NM_201383.2 32 12504 NP_958785.1
NM_201384.2 32 12612 NP_958786.1
XM_005250976.3 33 13106 XP_005251033.1
XM_005250978.3 33 12631 XP_005251035.1
XM_005250979.4 33 12590 XP_005251036.1
XM_005250980.4 33 12675 XP_005251037.1
XM_005250981.3 33 12512 XP_005251038.1
XM_005250982.3 33 12505 XP_005251039.1
XM_005250983.2 32 12429 XP_005251040.1
XM_005250984.4 33 12494 XP_005251041.1
XM_006716588.3 34 12683 XP_006716651.1
XM_006716589.2 33 12444 XP_006716652.1
XM_006716590.3 33 12554 XP_006716653.1
XM_011517130.2 33 12619 XP_011515432.1
XM_011517131.2 32 12538 XP_011515433.1
XM_011517132.2 32 9246 XP_011515434.1
AY480044.1 32 12570 AAR95677.1
AY480045.1 32 12441 AAR95678.1
AY480046.1 32 12566 AAR95679.1
AY480047.1 32 13064 AAR95680.1
AY480048.1 32 12461 AAR95681.1
AY480049.1 32 12490 AAR95682.1
AY480050.1 32 12504 AAR95683.1
AY480051.1 32 12612 AAR95684.1
BC007597.1 1 1929 AAH07597.1
U53204.1 33 12615 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 HSF1 MIR6849 MIR6893 SCX MIR661 SLC52A2 WDR97 GPT MIR1234 CYC1 OPLAH GRINA TONSL-AS1 SLC39A4 KIFC2 SPATC1 TMEM249 EXOSC4 LOC101928902 ADCK5 PLEC VPS28 MIR6847 CYHR1 MAF1 MIR6846 MIR7112 PPP1R16A BOP1 MFSD3 MIR939 PARP10 LOC101928953 RECQL4 GPAA1 HGH1 FOXH1 MROH1 SHARPIN CPSF1 SMPD5 LRRC14 DGAT1 TONSL MIR6848 SCRT1 FBXL6
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss HSF1 MIR6849 MIR6893 SCX MIR661 SLC52A2 WDR97 GPT MIR1234 CYC1 OPLAH GRINA TONSL-AS1 SLC39A4 KIFC2 SPATC1 TMEM249 EXOSC4 LOC101928902 ADCK5 PLEC VPS28 MIR6847 CYHR1 MAF1 MIR6846 MIR7112 PPP1R16A BOP1 MFSD3 MIR939 PARP10 LOC101928953 RECQL4 GPAA1 HGH1 FOXH1 MROH1 SHARPIN CPSF1 SMPD5 LRRC14 DGAT1 TONSL MIR6848 SCRT1 FBXL6
nsv612904 Chr.8:143916360 - 143920044 on Build GRCh38 Loss PLEC
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss MIR661 WDR97 CYC1 PARP10 OPLAH GRINA GPAA1 SPATC1 EXOSC4 PLEC HGH1 MIR6847 MAF1 MROH1 SHARPIN SMPD5 MIR6846 EPPK1
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion MIR661 WDR97 CYC1 PARP10 OPLAH GRINA GPAA1 SPATC1 EXOSC4 PLEC MIR6847 MAF1 SHARPIN SMPD5 MIR6846 EPPK1
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion NRBP2 PUF60 MIR661 MIR6845 PARP10 OPLAH GRINA SCRIB LOC642574 SPATC1 EXOSC4 PLEC MIR6847 MIR937 SMPD5 MIR6846 EPPK1
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain MIR661 WDR97 CYC1 PARP10 OPLAH GRINA GPAA1 SPATC1 EXOSC4 PLEC MIR6847 MAF1 SHARPIN SMPD5 MIR6846

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