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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143917776 on build GRCh38
Cytoband
8q24.3
Assay ID Hs02708737_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 12175 NP_000436.2
NM_201378.3 32 12060 NP_958780.1
NM_201379.2 32 12128 NP_958781.1
NM_201380.3 32 12626 NP_958782.1
NM_201381.2 32 12023 NP_958783.1
NM_201382.3 32 12113 NP_958784.1
NM_201383.2 32 12066 NP_958785.1
NM_201384.2 32 12174 NP_958786.1
XM_005250976.3 33 12668 XP_005251033.1
XM_005250978.3 33 12193 XP_005251035.1
XM_005250979.4 33 12152 XP_005251036.1
XM_005250980.4 33 12237 XP_005251037.1
XM_005250981.3 33 12074 XP_005251038.1
XM_005250982.3 33 12067 XP_005251039.1
XM_005250983.2 32 11991 XP_005251040.1
XM_005250984.4 33 12056 XP_005251041.1
XM_006716588.3 34 12245 XP_006716651.1
XM_006716589.2 33 12006 XP_006716652.1
XM_006716590.3 33 12116 XP_006716653.1
XM_011517130.2 33 12181 XP_011515432.1
XM_011517131.2 32 12100 XP_011515433.1
XM_011517132.2 32 8808 XP_011515434.1
AY480044.1 32 12132 AAR95677.1
AY480045.1 32 12003 AAR95678.1
AY480046.1 32 12128 AAR95679.1
AY480047.1 32 12626 AAR95680.1
AY480048.1 32 12023 AAR95681.1
AY480049.1 32 12052 AAR95682.1
AY480050.1 32 12066 AAR95683.1
AY480051.1 32 12174 AAR95684.1
BC007597.1 1 1491 AAH07597.1
U53204.1 33 12177 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 MROH1 KIFC2 VPS28 PARP10 RECQL4 GPT SLC52A2 OPLAH MAF1 LRRC14 CYC1 MIR6848 FBXL6 MIR6847 MFSD3 MIR6893 MIR6846 MIR939 CYHR1 HSF1 GRINA DGAT1 PLEC TONSL MIR6849 MIR1234 TONSL-AS1 SHARPIN HGH1 EXOSC4 CPSF1 GPAA1 TMEM249 PPP1R16A SMPD5 FOXH1 BOP1 WDR97 LOC101928953 SCRT1 SCX SPATC1 MIR7112 ADCK5 SLC39A4 MIR661 LOC101928902
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss MROH1 KIFC2 VPS28 PARP10 RECQL4 GPT SLC52A2 OPLAH MAF1 LRRC14 CYC1 MIR6848 FBXL6 MIR6847 MFSD3 MIR6893 MIR6846 MIR939 CYHR1 HSF1 GRINA DGAT1 PLEC TONSL MIR6849 MIR1234 TONSL-AS1 SHARPIN HGH1 EXOSC4 CPSF1 GPAA1 TMEM249 PPP1R16A SMPD5 FOXH1 BOP1 WDR97 LOC101928953 SCRT1 SCX SPATC1 MIR7112 ADCK5 SLC39A4 MIR661 LOC101928902
nsv612904 Chr.8:143916360 - 143920044 on Build GRCh38 Loss PLEC
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss MROH1 PARP10 SHARPIN OPLAH HGH1 MAF1 EXOSC4 GPAA1 CYC1 MIR6847 SMPD5 MIR6846 WDR97 GRINA SPATC1 PLEC MIR661 EPPK1
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion PARP10 SHARPIN OPLAH MAF1 EXOSC4 GPAA1 CYC1 MIR6847 SMPD5 MIR6846 WDR97 GRINA SPATC1 PLEC MIR661 EPPK1
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion PARP10 OPLAH MIR6845 EXOSC4 MIR6847 SMPD5 SCRIB LOC642574 PUF60 MIR6846 GRINA MIR937 SPATC1 PLEC MIR661 EPPK1 NRBP2
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain PARP10 SHARPIN OPLAH MAF1 EXOSC4 GPAA1 CYC1 MIR6847 SMPD5 MIR6846 WDR97 GRINA SPATC1 PLEC MIR661

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