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

Chr.8:143915730 on build GRCh38
Cytoband
8q24.3
Assay ID Hs02935486_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 14221 NP_000436.2
NM_201378.3 32 14106 NP_958780.1
NM_201379.2 32 14174 NP_958781.1
NM_201380.3 32 14672 NP_958782.1
NM_201381.2 32 14069 NP_958783.1
NM_201382.3 32 14159 NP_958784.1
NM_201383.2 32 14112 NP_958785.1
NM_201384.2 32 14220 NP_958786.1
XM_005250976.3 33 14714 XP_005251033.1
XM_005250978.3 33 14239 XP_005251035.1
XM_005250979.4 33 14198 XP_005251036.1
XM_005250980.4 33 14283 XP_005251037.1
XM_005250981.3 33 14120 XP_005251038.1
XM_005250982.3 33 14113 XP_005251039.1
XM_005250983.2 32 14037 XP_005251040.1
XM_005250984.4 33 14102 XP_005251041.1
XM_006716588.3 34 14291 XP_006716651.1
XM_006716589.2 33 14052 XP_006716652.1
XM_006716590.3 33 14162 XP_006716653.1
XM_011517130.2 33 14227 XP_011515432.1
XM_011517131.2 32 14146 XP_011515433.1
XM_011517132.2 32 10854 XP_011515434.1
AY480044.1 32 14178 AAR95677.1
AY480045.1 32 14049 AAR95678.1
AY480046.1 32 14174 AAR95679.1
AY480047.1 32 14672 AAR95680.1
AY480048.1 32 14069 AAR95681.1
AY480049.1 32 14098 AAR95682.1
AY480050.1 32 14112 AAR95683.1
AY480051.1 32 14220 AAR95684.1
BC007597.1 1 3537 AAH07597.1
U53204.1 33 14223 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 MIR6848 DGAT1 VPS28 WDR97 OPLAH RECQL4 MIR6847 LOC101928953 SCRT1 HGH1 PARP10 MIR6846 MFSD3 SMPD5 SPATC1 MIR1234 LOC101928902 MAF1 HSF1 ADCK5 PPP1R16A TMEM249 MIR661 SCX FBXL6 PLEC SLC39A4 GRINA EXOSC4 MIR7112 SLC52A2 FOXH1 MIR6849 TONSL-AS1 CYHR1 CYC1 TONSL MROH1 GPAA1 KIFC2 GPT BOP1 SHARPIN CPSF1 LRRC14 MIR939 MIR6893
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss MIR6848 DGAT1 VPS28 WDR97 OPLAH RECQL4 MIR6847 LOC101928953 SCRT1 HGH1 PARP10 MIR6846 MFSD3 SMPD5 SPATC1 MIR1234 LOC101928902 MAF1 HSF1 ADCK5 PPP1R16A TMEM249 MIR661 SCX FBXL6 PLEC SLC39A4 GRINA EXOSC4 MIR7112 SLC52A2 FOXH1 MIR6849 TONSL-AS1 CYHR1 CYC1 TONSL MROH1 GPAA1 KIFC2 GPT BOP1 SHARPIN CPSF1 LRRC14 MIR939 MIR6893
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss GRINA EPPK1 EXOSC4 WDR97 OPLAH MIR6847 HGH1 CYC1 PARP10 MIR6846 SMPD5 MROH1 SPATC1 GPAA1 MAF1 SHARPIN MIR661 PLEC
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion GRINA EPPK1 EXOSC4 WDR97 OPLAH MIR6847 CYC1 PARP10 MIR6846 SMPD5 SPATC1 GPAA1 MAF1 SHARPIN MIR661 PLEC
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion GRINA EPPK1 EXOSC4 MIR937 OPLAH MIR6847 NRBP2 LOC642574 PARP10 MIR6846 PUF60 SCRIB SMPD5 SPATC1 MIR6845 MIR661 PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain GRINA EXOSC4 WDR97 OPLAH MIR6847 CYC1 PARP10 MIR6846 SMPD5 SPATC1 GPAA1 MAF1 SHARPIN MIR661 PLEC

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