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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143920009 on build GRCh38
Cytoband
8q24.3
Assay ID Hs02369603_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 9942 NP_000436.2
NM_201378.3 32 9827 NP_958780.1
NM_201379.2 32 9895 NP_958781.1
NM_201380.3 32 10393 NP_958782.1
NM_201381.2 32 9790 NP_958783.1
NM_201382.3 32 9880 NP_958784.1
NM_201383.2 32 9833 NP_958785.1
NM_201384.2 32 9941 NP_958786.1
XM_005250976.3 33 10435 XP_005251033.1
XM_005250978.3 33 9960 XP_005251035.1
XM_005250979.4 33 9919 XP_005251036.1
XM_005250980.4 33 10004 XP_005251037.1
XM_005250981.3 33 9841 XP_005251038.1
XM_005250982.3 33 9834 XP_005251039.1
XM_005250983.2 32 9758 XP_005251040.1
XM_005250984.4 33 9823 XP_005251041.1
XM_006716588.3 34 10012 XP_006716651.1
XM_006716589.2 33 9773 XP_006716652.1
XM_006716590.3 33 9883 XP_006716653.1
XM_011517130.2 33 9948 XP_011515432.1
XM_011517131.2 32 9867 XP_011515433.1
XM_011517132.2 32 6575 XP_011515434.1
AY480044.1 32 9899 AAR95677.1
AY480045.1 32 9770 AAR95678.1
AY480046.1 32 9895 AAR95679.1
AY480047.1 32 10393 AAR95680.1
AY480048.1 32 9790 AAR95681.1
AY480049.1 32 9819 AAR95682.1
AY480050.1 32 9833 AAR95683.1
AY480051.1 32 9941 AAR95684.1
U53204.1 33 9944 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 CYHR1 BOP1 SMPD5 MIR6893 GPAA1 LOC101928953 MIR661 VPS28 KIFC2 SPATC1 CYC1 SCX MFSD3 DGAT1 ADCK5 WDR97 RECQL4 SCRT1 SLC52A2 GPT MIR939 SHARPIN MIR6846 MIR1234 LOC101928902 TONSL-AS1 CPSF1 HSF1 MROH1 MAF1 LRRC14 PPP1R16A MIR6848 GRINA PLEC SLC39A4 EXOSC4 OPLAH MIR7112 FBXL6 MIR6849 TONSL MIR6847 HGH1 TMEM249 FOXH1 PARP10
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss CYHR1 BOP1 SMPD5 MIR6893 GPAA1 LOC101928953 MIR661 VPS28 KIFC2 SPATC1 CYC1 SCX MFSD3 DGAT1 ADCK5 WDR97 RECQL4 SCRT1 SLC52A2 GPT MIR939 SHARPIN MIR6846 MIR1234 LOC101928902 TONSL-AS1 CPSF1 HSF1 MROH1 MAF1 LRRC14 PPP1R16A MIR6848 GRINA PLEC SLC39A4 EXOSC4 OPLAH MIR7112 FBXL6 MIR6849 TONSL MIR6847 HGH1 TMEM249 FOXH1 PARP10
nsv612904 Chr.8:143916360 - 143920044 on Build GRCh38 Loss PLEC
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss MROH1 SMPD5 MAF1 GPAA1 MIR661 EPPK1 GRINA PLEC SPATC1 CYC1 EXOSC4 OPLAH WDR97 SHARPIN MIR6846 MIR6847 HGH1 PARP10
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion SMPD5 MAF1 GPAA1 MIR661 EPPK1 GRINA PLEC SPATC1 CYC1 EXOSC4 OPLAH WDR97 SHARPIN MIR6846 MIR6847 PARP10
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion SMPD5 MIR661 LOC642574 PUF60 EPPK1 GRINA PLEC SPATC1 EXOSC4 OPLAH NRBP2 MIR6846 MIR6847 MIR937 MIR6845 SCRIB PARP10
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain SMPD5 GPAA1 MIR6846 MIR661 MIR6847 GRINA PLEC SPATC1 CYC1 EXOSC4 OPLAH PARP10
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain SMPD5 MAF1 GPAA1 MIR661 GRINA PLEC SPATC1 CYC1 EXOSC4 OPLAH WDR97 SHARPIN MIR6846 MIR6847 PARP10
nsv612906 Chr.8:143917935 - 144090784 on Build GRCh38 Loss SMPD5 GPAA1 MIR6846 MIR661 MIR6847 GRINA PLEC SPATC1 EXOSC4 OPLAH PARP10

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