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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143920677 on build GRCh38
Cytoband
8q24.3
Assay ID Hs00759839_cn
Size
Availability Made To Order
Catalog # 4400291
Price 475.00
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441.65
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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 9274 NP_000436.2
NM_201378.3 32 9159 NP_958780.1
NM_201379.2 32 9227 NP_958781.1
NM_201380.3 32 9725 NP_958782.1
NM_201381.2 32 9122 NP_958783.1
NM_201382.3 32 9212 NP_958784.1
NM_201383.2 32 9165 NP_958785.1
NM_201384.2 32 9273 NP_958786.1
XM_005250976.3 33 9767 XP_005251033.1
XM_005250978.3 33 9292 XP_005251035.1
XM_005250979.4 33 9251 XP_005251036.1
XM_005250980.4 33 9336 XP_005251037.1
XM_005250981.3 33 9173 XP_005251038.1
XM_005250982.3 33 9166 XP_005251039.1
XM_005250983.2 32 9090 XP_005251040.1
XM_005250984.4 33 9155 XP_005251041.1
XM_006716588.3 34 9344 XP_006716651.1
XM_006716589.2 33 9105 XP_006716652.1
XM_006716590.3 33 9215 XP_006716653.1
XM_011517130.2 33 9280 XP_011515432.1
XM_011517131.2 32 9199 XP_011515433.1
XM_011517132.2 32 5907 XP_011515434.1
AY480044.1 32 9231 AAR95677.1
AY480045.1 32 9102 AAR95678.1
AY480046.1 32 9227 AAR95679.1
AY480047.1 32 9725 AAR95680.1
AY480048.1 32 9122 AAR95681.1
AY480049.1 32 9151 AAR95682.1
AY480050.1 32 9165 AAR95683.1
AY480051.1 32 9273 AAR95684.1
U53204.1 33 9276 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 KIFC2 GPT LOC101928902 ADCK5 HGH1 TONSL-AS1 MFSD3 OPLAH MIR661 BOP1 PPP1R16A SPATC1 TMEM249 TONSL SCX LOC101928953 MIR939 VPS28 SCRT1 LRRC14 CYHR1 MIR6846 MROH1 GPAA1 MIR6847 PARP10 SLC52A2 MIR6848 MIR6849 CYC1 CPSF1 HSF1 WDR97 FBXL6 SLC39A4 RECQL4 MIR6893 MAF1 EXOSC4 MIR1234 PLEC FOXH1 MIR7112 SHARPIN DGAT1 SMPD5 GRINA
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss KIFC2 GPT LOC101928902 ADCK5 HGH1 TONSL-AS1 MFSD3 OPLAH MIR661 BOP1 PPP1R16A SPATC1 TMEM249 TONSL SCX LOC101928953 MIR939 VPS28 SCRT1 LRRC14 CYHR1 MIR6846 MROH1 GPAA1 MIR6847 PARP10 SLC52A2 MIR6848 MIR6849 CYC1 CPSF1 HSF1 WDR97 FBXL6 SLC39A4 RECQL4 MIR6893 MAF1 EXOSC4 MIR1234 PLEC FOXH1 MIR7112 SHARPIN DGAT1 SMPD5 GRINA
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss HGH1 OPLAH CYC1 MIR661 SPATC1 WDR97 MAF1 EPPK1 EXOSC4 PLEC MIR6846 MROH1 SHARPIN SMPD5 GPAA1 MIR6847 GRINA PARP10
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion OPLAH CYC1 MIR661 SPATC1 WDR97 MAF1 EPPK1 EXOSC4 PLEC MIR6846 SHARPIN SMPD5 GPAA1 MIR6847 GRINA PARP10
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion PUF60 OPLAH MIR661 SCRIB SPATC1 MIR6845 NRBP2 EPPK1 EXOSC4 PLEC MIR6846 SMPD5 MIR937 MIR6847 GRINA LOC642574 PARP10
nsv612911 Chr.8:143920044 - 143926863 on Build GRCh38 Gain PLEC
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain EXOSC4 PLEC OPLAH CYC1 MIR6846 MIR661 SMPD5 SPATC1 GPAA1 MIR6847 GRINA PARP10
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain OPLAH CYC1 MIR661 SPATC1 WDR97 MAF1 EXOSC4 PLEC MIR6846 SHARPIN SMPD5 GPAA1 MIR6847 GRINA PARP10
nsv612906 Chr.8:143917935 - 144090784 on Build GRCh38 Loss EXOSC4 PLEC OPLAH MIR6846 MIR661 SMPD5 SPATC1 GPAA1 MIR6847 GRINA PARP10

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