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See other PLEC CNV Assays ›
Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143918009 on build GRCh38
Cytoband
8q24.3
Assay ID Hs01619602_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 11942 NP_000436.2
NM_201378.3 32 11827 NP_958780.1
NM_201379.2 32 11895 NP_958781.1
NM_201380.3 32 12393 NP_958782.1
NM_201381.2 32 11790 NP_958783.1
NM_201382.3 32 11880 NP_958784.1
NM_201383.2 32 11833 NP_958785.1
NM_201384.2 32 11941 NP_958786.1
XM_005250976.3 33 12435 XP_005251033.1
XM_005250978.3 33 11960 XP_005251035.1
XM_005250979.4 33 11919 XP_005251036.1
XM_005250980.4 33 12004 XP_005251037.1
XM_005250981.3 33 11841 XP_005251038.1
XM_005250982.3 33 11834 XP_005251039.1
XM_005250983.2 32 11758 XP_005251040.1
XM_005250984.4 33 11823 XP_005251041.1
XM_006716588.3 34 12012 XP_006716651.1
XM_006716589.2 33 11773 XP_006716652.1
XM_006716590.3 33 11883 XP_006716653.1
XM_011517130.2 33 11948 XP_011515432.1
XM_011517131.2 32 11867 XP_011515433.1
XM_011517132.2 32 8575 XP_011515434.1
AY480044.1 32 11899 AAR95677.1
AY480045.1 32 11770 AAR95678.1
AY480046.1 32 11895 AAR95679.1
AY480047.1 32 12393 AAR95680.1
AY480048.1 32 11790 AAR95681.1
AY480049.1 32 11819 AAR95682.1
AY480050.1 32 11833 AAR95683.1
AY480051.1 32 11941 AAR95684.1
BC007597.1 1 1258 AAH07597.1
U53204.1 33 11944 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 MIR6846 LOC101928902 TONSL-AS1 VPS28 HGH1 SCX MFSD3 SPATC1 CYHR1 LOC101928953 GPT MIR7112 GRINA MIR1234 BOP1 CPSF1 MIR6849 DGAT1 SLC52A2 MIR939 PARP10 FBXL6 SMPD5 MROH1 MIR661 SLC39A4 RECQL4 LRRC14 TONSL KIFC2 PLEC SCRT1 CYC1 MAF1 OPLAH PPP1R16A MIR6847 ADCK5 MIR6893 WDR97 TMEM249 HSF1 MIR6848 GPAA1 SHARPIN EXOSC4 FOXH1
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss MIR6846 LOC101928902 TONSL-AS1 VPS28 HGH1 SCX MFSD3 SPATC1 CYHR1 LOC101928953 GPT MIR7112 GRINA MIR1234 BOP1 CPSF1 MIR6849 DGAT1 SLC52A2 MIR939 PARP10 FBXL6 SMPD5 MROH1 MIR661 SLC39A4 RECQL4 LRRC14 TONSL KIFC2 PLEC SCRT1 CYC1 MAF1 OPLAH PPP1R16A MIR6847 ADCK5 MIR6893 WDR97 TMEM249 HSF1 MIR6848 GPAA1 SHARPIN EXOSC4 FOXH1
nsv612904 Chr.8:143916360 - 143920044 on Build GRCh38 Loss PLEC
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss MROH1 MIR6846 MIR661 HGH1 PLEC SPATC1 CYC1 MAF1 OPLAH GRINA MIR6847 WDR97 EPPK1 GPAA1 SHARPIN EXOSC4 PARP10 SMPD5
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion MIR6846 MIR661 PLEC SPATC1 CYC1 MAF1 OPLAH GRINA MIR6847 WDR97 EPPK1 GPAA1 SHARPIN EXOSC4 PARP10 SMPD5
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion MIR6846 MIR661 LOC642574 PLEC SPATC1 NRBP2 OPLAH GRINA MIR6847 EPPK1 SCRIB MIR937 EXOSC4 PUF60 MIR6845 PARP10 SMPD5
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain MIR6847 MIR6846 MIR661 PLEC SPATC1 GPAA1 EXOSC4 CYC1 PARP10 OPLAH GRINA SMPD5
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain MIR6846 MIR661 PLEC SPATC1 CYC1 MAF1 OPLAH GRINA MIR6847 WDR97 GPAA1 SHARPIN EXOSC4 PARP10 SMPD5
nsv612906 Chr.8:143917935 - 144090784 on Build GRCh38 Loss MIR6847 MIR6846 MIR661 PLEC SPATC1 GPAA1 EXOSC4 PARP10 OPLAH GRINA SMPD5

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