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

Chr.8:143921683 on build GRCh38
Cytoband
8q24.3
Assay ID Hs02047987_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 8268 NP_000436.2
NM_201378.3 32 8153 NP_958780.1
NM_201379.2 32 8221 NP_958781.1
NM_201380.3 32 8719 NP_958782.1
NM_201381.2 32 8116 NP_958783.1
NM_201382.3 32 8206 NP_958784.1
NM_201383.2 32 8159 NP_958785.1
NM_201384.2 32 8267 NP_958786.1
XM_005250976.3 33 8761 XP_005251033.1
XM_005250978.3 33 8286 XP_005251035.1
XM_005250979.4 33 8245 XP_005251036.1
XM_005250980.4 33 8330 XP_005251037.1
XM_005250981.3 33 8167 XP_005251038.1
XM_005250982.3 33 8160 XP_005251039.1
XM_005250983.2 32 8084 XP_005251040.1
XM_005250984.4 33 8149 XP_005251041.1
XM_006716588.3 34 8338 XP_006716651.1
XM_006716589.2 33 8099 XP_006716652.1
XM_006716590.3 33 8209 XP_006716653.1
XM_011517130.2 33 8274 XP_011515432.1
XM_011517131.2 32 8193 XP_011515433.1
XM_011517132.2 32 4901 XP_011515434.1
AY480044.1 32 8225 AAR95677.1
AY480045.1 32 8096 AAR95678.1
AY480046.1 32 8221 AAR95679.1
AY480047.1 32 8719 AAR95680.1
AY480048.1 32 8116 AAR95681.1
AY480049.1 32 8145 AAR95682.1
AY480050.1 32 8159 AAR95683.1
AY480051.1 32 8267 AAR95684.1
U53204.1 33 8270 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 MIR1234 CPSF1 GPT LOC101928953 SCRT1 KIFC2 GPAA1 ADCK5 TMEM249 SMPD5 FBXL6 MIR6846 SLC39A4 GRINA MIR661 WDR97 VPS28 BOP1 PLEC LOC101928902 FOXH1 OPLAH CYHR1 MIR6847 PARP10 SHARPIN MROH1 HGH1 RECQL4 MIR6849 HSF1 MFSD3 LRRC14 SCX MAF1 SLC52A2 EXOSC4 MIR939 SPATC1 DGAT1 MIR7112 MIR6848 TONSL MIR6893 TONSL-AS1 PPP1R16A CYC1
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss MIR1234 CPSF1 GPT LOC101928953 SCRT1 KIFC2 GPAA1 ADCK5 TMEM249 SMPD5 FBXL6 MIR6846 SLC39A4 GRINA MIR661 WDR97 VPS28 BOP1 PLEC LOC101928902 FOXH1 OPLAH CYHR1 MIR6847 PARP10 SHARPIN MROH1 HGH1 RECQL4 MIR6849 HSF1 MFSD3 LRRC14 SCX MAF1 SLC52A2 EXOSC4 MIR939 SPATC1 DGAT1 MIR7112 MIR6848 TONSL MIR6893 TONSL-AS1 PPP1R16A CYC1
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss MIR6847 PARP10 SHARPIN MROH1 HGH1 GPAA1 SMPD5 MIR6846 MAF1 GRINA EXOSC4 MIR661 WDR97 PLEC SPATC1 EPPK1 OPLAH CYC1
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion MIR6847 PARP10 SHARPIN GPAA1 SMPD5 MIR6846 MAF1 GRINA EXOSC4 MIR661 WDR97 PLEC SPATC1 EPPK1 OPLAH CYC1
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion MIR6847 SCRIB PARP10 NRBP2 MIR937 SMPD5 MIR6846 GRINA EXOSC4 MIR661 PLEC SPATC1 PUF60 MIR6845 EPPK1 OPLAH LOC642574
nsv612911 Chr.8:143920044 - 143926863 on Build GRCh38 Gain PLEC
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain MIR6846 GRINA MIR6847 EXOSC4 MIR661 PARP10 PLEC SPATC1 GPAA1 OPLAH SMPD5 CYC1
nsv824794 Chr.8:143915958 - 143954439 on Build GRCh38 Gain MIR661 PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain MIR6847 PARP10 SHARPIN GPAA1 SMPD5 MIR6846 MAF1 GRINA EXOSC4 MIR661 WDR97 PLEC SPATC1 OPLAH CYC1
nsv612906 Chr.8:143917935 - 144090784 on Build GRCh38 Loss MIR6846 GRINA MIR6847 EXOSC4 MIR661 PARP10 PLEC SPATC1 GPAA1 OPLAH SMPD5

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