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

Chr.8:143920942 on build GRCh38
Cytoband
8q24.3
Assay ID Hs00732228_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 9009 NP_000436.2
NM_201378.3 32 8894 NP_958780.1
NM_201379.2 32 8962 NP_958781.1
NM_201380.3 32 9460 NP_958782.1
NM_201381.2 32 8857 NP_958783.1
NM_201382.3 32 8947 NP_958784.1
NM_201383.2 32 8900 NP_958785.1
NM_201384.2 32 9008 NP_958786.1
XM_005250976.3 33 9502 XP_005251033.1
XM_005250978.3 33 9027 XP_005251035.1
XM_005250979.4 33 8986 XP_005251036.1
XM_005250980.4 33 9071 XP_005251037.1
XM_005250981.3 33 8908 XP_005251038.1
XM_005250982.3 33 8901 XP_005251039.1
XM_005250983.2 32 8825 XP_005251040.1
XM_005250984.4 33 8890 XP_005251041.1
XM_006716588.3 34 9079 XP_006716651.1
XM_006716589.2 33 8840 XP_006716652.1
XM_006716590.3 33 8950 XP_006716653.1
XM_011517130.2 33 9015 XP_011515432.1
XM_011517131.2 32 8934 XP_011515433.1
XM_011517132.2 32 5642 XP_011515434.1
AY480044.1 32 8966 AAR95677.1
AY480045.1 32 8837 AAR95678.1
AY480046.1 32 8962 AAR95679.1
AY480047.1 32 9460 AAR95680.1
AY480048.1 32 8857 AAR95681.1
AY480049.1 32 8886 AAR95682.1
AY480050.1 32 8900 AAR95683.1
AY480051.1 32 9008 AAR95684.1
U53204.1 33 9011 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 PPP1R16A CYHR1 GPAA1 MIR6847 SCX HGH1 MIR6848 MIR6846 SHARPIN TONSL SLC39A4 SCRT1 SMPD5 SPATC1 BOP1 PLEC MIR939 LRRC14 GPT KIFC2 MAF1 TONSL-AS1 GRINA CPSF1 MIR1234 TMEM249 MIR661 RECQL4 DGAT1 MIR7112 VPS28 FOXH1 FBXL6 LOC101928902 OPLAH CYC1 SLC52A2 MIR6893 MIR6849 MFSD3 MROH1 PARP10 ADCK5 LOC101928953 EXOSC4 HSF1 WDR97
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss PPP1R16A CYHR1 GPAA1 MIR6847 SCX HGH1 MIR6848 MIR6846 SHARPIN TONSL SLC39A4 SCRT1 SMPD5 SPATC1 BOP1 PLEC MIR939 LRRC14 GPT KIFC2 MAF1 TONSL-AS1 GRINA CPSF1 MIR1234 TMEM249 MIR661 RECQL4 DGAT1 MIR7112 VPS28 FOXH1 FBXL6 LOC101928902 OPLAH CYC1 SLC52A2 MIR6893 MIR6849 MFSD3 MROH1 PARP10 ADCK5 LOC101928953 EXOSC4 HSF1 WDR97
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss GPAA1 MIR6847 OPLAH HGH1 CYC1 MIR6846 SHARPIN MROH1 PARP10 SMPD5 SPATC1 PLEC EPPK1 EXOSC4 MAF1 GRINA WDR97 MIR661
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion GPAA1 MIR6847 OPLAH CYC1 MIR6846 SHARPIN PARP10 SMPD5 SPATC1 PLEC EPPK1 EXOSC4 MAF1 GRINA WDR97 MIR661
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion MIR6847 PUF60 OPLAH SCRIB NRBP2 MIR6846 MIR6845 MIR937 PARP10 SMPD5 SPATC1 PLEC EPPK1 EXOSC4 LOC642574 GRINA MIR661
nsv612911 Chr.8:143920044 - 143926863 on Build GRCh38 Gain PLEC
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain GPAA1 MIR6847 PARP10 SMPD5 SPATC1 OPLAH PLEC CYC1 EXOSC4 GRINA MIR6846 MIR661
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain GPAA1 MIR6847 OPLAH CYC1 MIR6846 SHARPIN PARP10 SMPD5 SPATC1 PLEC EXOSC4 MAF1 GRINA WDR97 MIR661
nsv612906 Chr.8:143917935 - 144090784 on Build GRCh38 Loss GPAA1 MIR6847 PARP10 SMPD5 SPATC1 OPLAH PLEC EXOSC4 GRINA MIR6846 MIR661

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