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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143918325 on build GRCh38
Cytoband
8q24.3
Assay ID Hs01656961_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 11626 NP_000436.2
NM_201378.3 32 11511 NP_958780.1
NM_201379.2 32 11579 NP_958781.1
NM_201380.3 32 12077 NP_958782.1
NM_201381.2 32 11474 NP_958783.1
NM_201382.3 32 11564 NP_958784.1
NM_201383.2 32 11517 NP_958785.1
NM_201384.2 32 11625 NP_958786.1
XM_005250976.3 33 12119 XP_005251033.1
XM_005250978.3 33 11644 XP_005251035.1
XM_005250979.4 33 11603 XP_005251036.1
XM_005250980.4 33 11688 XP_005251037.1
XM_005250981.3 33 11525 XP_005251038.1
XM_005250982.3 33 11518 XP_005251039.1
XM_005250983.2 32 11442 XP_005251040.1
XM_005250984.4 33 11507 XP_005251041.1
XM_006716588.3 34 11696 XP_006716651.1
XM_006716589.2 33 11457 XP_006716652.1
XM_006716590.3 33 11567 XP_006716653.1
XM_011517130.2 33 11632 XP_011515432.1
XM_011517131.2 32 11551 XP_011515433.1
XM_011517132.2 32 8259 XP_011515434.1
AY480044.1 32 11583 AAR95677.1
AY480045.1 32 11454 AAR95678.1
AY480046.1 32 11579 AAR95679.1
AY480047.1 32 12077 AAR95680.1
AY480048.1 32 11474 AAR95681.1
AY480049.1 32 11503 AAR95682.1
AY480050.1 32 11517 AAR95683.1
AY480051.1 32 11625 AAR95684.1
BC007597.1 1 942 AAH07597.1
U53204.1 33 11628 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 MIR939 MIR661 BOP1 VPS28 MIR1234 FOXH1 MIR6848 HSF1 GRINA SLC39A4 SHARPIN MIR6849 HGH1 GPAA1 MROH1 LOC101928953 MFSD3 EXOSC4 TONSL MAF1 DGAT1 SPATC1 OPLAH CYHR1 LOC101928902 SCX ADCK5 KIFC2 PARP10 MIR6846 WDR97 MIR6893 PPP1R16A TMEM249 MIR6847 SCRT1 LRRC14 PLEC GPT SLC52A2 TONSL-AS1 CPSF1 RECQL4 CYC1 SMPD5 FBXL6 MIR7112
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss MIR939 MIR661 BOP1 VPS28 MIR1234 FOXH1 MIR6848 HSF1 GRINA SLC39A4 SHARPIN MIR6849 HGH1 GPAA1 MROH1 LOC101928953 MFSD3 EXOSC4 TONSL MAF1 DGAT1 SPATC1 OPLAH CYHR1 LOC101928902 SCX ADCK5 KIFC2 PARP10 MIR6846 WDR97 MIR6893 PPP1R16A TMEM249 MIR6847 SCRT1 LRRC14 PLEC GPT SLC52A2 TONSL-AS1 CPSF1 RECQL4 CYC1 SMPD5 FBXL6 MIR7112
nsv612904 Chr.8:143916360 - 143920044 on Build GRCh38 Loss PLEC
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss MIR661 PARP10 MIR6846 WDR97 GRINA SHARPIN EPPK1 HGH1 GPAA1 MIR6847 MROH1 EXOSC4 PLEC MAF1 CYC1 SMPD5 SPATC1 OPLAH
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion MIR661 PARP10 MIR6846 WDR97 GRINA SHARPIN EPPK1 GPAA1 MIR6847 EXOSC4 PLEC MAF1 CYC1 SMPD5 SPATC1 OPLAH
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion MIR661 PARP10 SCRIB MIR6846 GRINA MIR6845 EPPK1 MIR6847 MIR937 EXOSC4 PUF60 NRBP2 PLEC LOC642574 SMPD5 SPATC1 OPLAH
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain MIR661 GPAA1 MIR6847 PARP10 EXOSC4 MIR6846 PLEC CYC1 SMPD5 GRINA SPATC1 OPLAH
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain MIR661 PARP10 MIR6846 WDR97 GRINA SHARPIN GPAA1 MIR6847 EXOSC4 PLEC MAF1 CYC1 SMPD5 SPATC1 OPLAH
nsv612906 Chr.8:143917935 - 144090784 on Build GRCh38 Loss MIR661 GPAA1 MIR6847 PARP10 EXOSC4 MIR6846 PLEC SMPD5 GRINA SPATC1 OPLAH

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