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

Chr.8:143920543 on build GRCh38
Cytoband
8q24.3
Assay ID Hs00631213_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 9408 NP_000436.2
NM_201378.3 32 9293 NP_958780.1
NM_201379.2 32 9361 NP_958781.1
NM_201380.3 32 9859 NP_958782.1
NM_201381.2 32 9256 NP_958783.1
NM_201382.3 32 9346 NP_958784.1
NM_201383.2 32 9299 NP_958785.1
NM_201384.2 32 9407 NP_958786.1
XM_005250976.3 33 9901 XP_005251033.1
XM_005250978.3 33 9426 XP_005251035.1
XM_005250979.4 33 9385 XP_005251036.1
XM_005250980.4 33 9470 XP_005251037.1
XM_005250981.3 33 9307 XP_005251038.1
XM_005250982.3 33 9300 XP_005251039.1
XM_005250983.2 32 9224 XP_005251040.1
XM_005250984.4 33 9289 XP_005251041.1
XM_006716588.3 34 9478 XP_006716651.1
XM_006716589.2 33 9239 XP_006716652.1
XM_006716590.3 33 9349 XP_006716653.1
XM_011517130.2 33 9414 XP_011515432.1
XM_011517131.2 32 9333 XP_011515433.1
XM_011517132.2 32 6041 XP_011515434.1
AY480044.1 32 9365 AAR95677.1
AY480045.1 32 9236 AAR95678.1
AY480046.1 32 9361 AAR95679.1
AY480047.1 32 9859 AAR95680.1
AY480048.1 32 9256 AAR95681.1
AY480049.1 32 9285 AAR95682.1
AY480050.1 32 9299 AAR95683.1
AY480051.1 32 9407 AAR95684.1
U53204.1 33 9410 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 GRINA MIR7112 MROH1 WDR97 MIR6847 FBXL6 LRRC14 MFSD3 ADCK5 HGH1 MIR6848 VPS28 KIFC2 RECQL4 MIR939 MIR6846 SPATC1 EXOSC4 GPAA1 PPP1R16A CYHR1 TONSL MIR6849 MIR661 LOC101928953 SHARPIN CPSF1 MIR6893 PLEC TONSL-AS1 FOXH1 LOC101928902 PARP10 CYC1 SCRT1 BOP1 TMEM249 MIR1234 SCX SLC52A2 SMPD5 GPT HSF1 OPLAH MAF1 SLC39A4 DGAT1
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss GRINA MIR7112 MROH1 WDR97 MIR6847 FBXL6 LRRC14 MFSD3 ADCK5 HGH1 MIR6848 VPS28 KIFC2 RECQL4 MIR939 MIR6846 SPATC1 EXOSC4 GPAA1 PPP1R16A CYHR1 TONSL MIR6849 MIR661 LOC101928953 SHARPIN CPSF1 MIR6893 PLEC TONSL-AS1 FOXH1 LOC101928902 PARP10 CYC1 SCRT1 BOP1 TMEM249 MIR1234 SCX SLC52A2 SMPD5 GPT HSF1 OPLAH MAF1 SLC39A4 DGAT1
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss GRINA MROH1 WDR97 MIR6847 PLEC PARP10 CYC1 HGH1 SMPD5 MIR6846 SPATC1 EXOSC4 GPAA1 OPLAH MIR661 MAF1 EPPK1 SHARPIN
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion GRINA WDR97 MIR6847 PLEC PARP10 CYC1 SMPD5 MIR6846 SPATC1 EXOSC4 GPAA1 OPLAH MIR661 MAF1 EPPK1 SHARPIN
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion GRINA MIR6847 PLEC LOC642574 PARP10 SCRIB PUF60 MIR6845 NRBP2 SMPD5 MIR6846 SPATC1 EXOSC4 MIR937 OPLAH MIR661 EPPK1
nsv612911 Chr.8:143920044 - 143926863 on Build GRCh38 Gain PLEC
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain GRINA SMPD5 MIR6847 PLEC MIR6846 SPATC1 EXOSC4 GPAA1 PARP10 CYC1 OPLAH MIR661
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain GRINA WDR97 MIR6847 PLEC PARP10 CYC1 SMPD5 MIR6846 SPATC1 EXOSC4 GPAA1 OPLAH MIR661 MAF1 SHARPIN
nsv612906 Chr.8:143917935 - 144090784 on Build GRCh38 Loss GRINA SMPD5 MIR6847 PLEC MIR6846 SPATC1 EXOSC4 GPAA1 PARP10 OPLAH MIR661

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