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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143917436 on build GRCh38
Cytoband
8q24.3
Assay ID Hs02308151_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 12515 NP_000436.2
NM_201378.3 32 12400 NP_958780.1
NM_201379.2 32 12468 NP_958781.1
NM_201380.3 32 12966 NP_958782.1
NM_201381.2 32 12363 NP_958783.1
NM_201382.3 32 12453 NP_958784.1
NM_201383.2 32 12406 NP_958785.1
NM_201384.2 32 12514 NP_958786.1
XM_005250976.3 33 13008 XP_005251033.1
XM_005250978.3 33 12533 XP_005251035.1
XM_005250979.4 33 12492 XP_005251036.1
XM_005250980.4 33 12577 XP_005251037.1
XM_005250981.3 33 12414 XP_005251038.1
XM_005250982.3 33 12407 XP_005251039.1
XM_005250983.2 32 12331 XP_005251040.1
XM_005250984.4 33 12396 XP_005251041.1
XM_006716588.3 34 12585 XP_006716651.1
XM_006716589.2 33 12346 XP_006716652.1
XM_006716590.3 33 12456 XP_006716653.1
XM_011517130.2 33 12521 XP_011515432.1
XM_011517131.2 32 12440 XP_011515433.1
XM_011517132.2 32 9148 XP_011515434.1
AY480044.1 32 12472 AAR95677.1
AY480045.1 32 12343 AAR95678.1
AY480046.1 32 12468 AAR95679.1
AY480047.1 32 12966 AAR95680.1
AY480048.1 32 12363 AAR95681.1
AY480049.1 32 12392 AAR95682.1
AY480050.1 32 12406 AAR95683.1
AY480051.1 32 12514 AAR95684.1
BC007597.1 1 1831 AAH07597.1
U53204.1 33 12517 AAB05427.1

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

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