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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143916659 on build GRCh38
Cytoband
8q24.3
Assay ID Hs02962843_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 13292 NP_000436.2
NM_201378.3 32 13177 NP_958780.1
NM_201379.2 32 13245 NP_958781.1
NM_201380.3 32 13743 NP_958782.1
NM_201381.2 32 13140 NP_958783.1
NM_201382.3 32 13230 NP_958784.1
NM_201383.2 32 13183 NP_958785.1
NM_201384.2 32 13291 NP_958786.1
XM_005250976.3 33 13785 XP_005251033.1
XM_005250978.3 33 13310 XP_005251035.1
XM_005250979.4 33 13269 XP_005251036.1
XM_005250980.4 33 13354 XP_005251037.1
XM_005250981.3 33 13191 XP_005251038.1
XM_005250982.3 33 13184 XP_005251039.1
XM_005250983.2 32 13108 XP_005251040.1
XM_005250984.4 33 13173 XP_005251041.1
XM_006716588.3 34 13362 XP_006716651.1
XM_006716589.2 33 13123 XP_006716652.1
XM_006716590.3 33 13233 XP_006716653.1
XM_011517130.2 33 13298 XP_011515432.1
XM_011517131.2 32 13217 XP_011515433.1
XM_011517132.2 32 9925 XP_011515434.1
AY480044.1 32 13249 AAR95677.1
AY480045.1 32 13120 AAR95678.1
AY480046.1 32 13245 AAR95679.1
AY480047.1 32 13743 AAR95680.1
AY480048.1 32 13140 AAR95681.1
AY480049.1 32 13169 AAR95682.1
AY480050.1 32 13183 AAR95683.1
AY480051.1 32 13291 AAR95684.1
BC007597.1 1 2608 AAH07597.1
U53204.1 33 13294 AAB05427.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv824795 Chr.8:143915993 - 143917638 on Build GRCh38 Gain PLEC
nsv470249 Chr.8:143889098 - 144519234 on Build GRCh38 Loss LOC101928902 PLEC DGAT1 RECQL4 FBXL6 MIR7112 WDR97 PARP10 SLC52A2 MIR6893 TONSL SCX SHARPIN TMEM249 MIR661 VPS28 CPSF1 OPLAH FOXH1 MROH1 MFSD3 EXOSC4 MIR1234 BOP1 MIR6847 SLC39A4 CYHR1 GPAA1 GRINA HSF1 GPT MIR939 PPP1R16A SPATC1 MAF1 LOC101928953 SMPD5 MIR6848 ADCK5 HGH1 MIR6849 MIR6846 KIFC2 CYC1 TONSL-AS1 SCRT1 LRRC14
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss LOC101928902 PLEC DGAT1 RECQL4 FBXL6 MIR7112 WDR97 PARP10 SLC52A2 MIR6893 TONSL SCX SHARPIN TMEM249 MIR661 VPS28 CPSF1 OPLAH FOXH1 MROH1 MFSD3 EXOSC4 MIR1234 BOP1 MIR6847 SLC39A4 CYHR1 GPAA1 GRINA HSF1 GPT MIR939 PPP1R16A SPATC1 MAF1 LOC101928953 SMPD5 MIR6848 ADCK5 HGH1 MIR6849 MIR6846 KIFC2 CYC1 TONSL-AS1 SCRT1 LRRC14
nsv612904 Chr.8:143916360 - 143920044 on Build GRCh38 Loss PLEC
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss OPLAH MROH1 EXOSC4 MIR6847 PLEC GPAA1 GRINA SPATC1 WDR97 MAF1 PARP10 SMPD5 HGH1 MIR6846 SHARPIN MIR661 CYC1 EPPK1
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion OPLAH EXOSC4 MIR6847 PLEC GPAA1 GRINA SPATC1 WDR97 MAF1 PARP10 SMPD5 MIR6846 SHARPIN MIR661 CYC1 EPPK1
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion OPLAH EXOSC4 PUF60 MIR6847 PLEC GRINA MIR6845 SPATC1 PARP10 SMPD5 MIR937 LOC642574 MIR6846 MIR661 SCRIB NRBP2 EPPK1
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain OPLAH EXOSC4 MIR6847 PLEC GPAA1 GRINA SPATC1 WDR97 MAF1 PARP10 SMPD5 MIR6846 SHARPIN MIR661 CYC1

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