accessibility menu, dialog, popup

UserName
Viewing profile as user:

Please enter the information below and press OK to send your cart to Core Services for purchase.

    

System Message

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

Chr.8:143916071 on build GRCh38
Cytoband
8q24.3
Assay ID Hs01911422_cn
Size
Availability Made To Order
Catalog # 4400291
Price
Your Price
Online offer:
Check your price ›

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 13880 NP_000436.2
NM_201378.3 32 13765 NP_958780.1
NM_201379.2 32 13833 NP_958781.1
NM_201380.3 32 14331 NP_958782.1
NM_201381.2 32 13728 NP_958783.1
NM_201382.3 32 13818 NP_958784.1
NM_201383.2 32 13771 NP_958785.1
NM_201384.2 32 13879 NP_958786.1
XM_005250976.3 33 14373 XP_005251033.1
XM_005250978.3 33 13898 XP_005251035.1
XM_005250979.4 33 13857 XP_005251036.1
XM_005250980.4 33 13942 XP_005251037.1
XM_005250981.3 33 13779 XP_005251038.1
XM_005250982.3 33 13772 XP_005251039.1
XM_005250983.2 32 13696 XP_005251040.1
XM_005250984.4 33 13761 XP_005251041.1
XM_006716588.3 34 13950 XP_006716651.1
XM_006716589.2 33 13711 XP_006716652.1
XM_006716590.3 33 13821 XP_006716653.1
XM_011517130.2 33 13886 XP_011515432.1
XM_011517131.2 32 13805 XP_011515433.1
XM_011517132.2 32 10513 XP_011515434.1
AY480044.1 32 13837 AAR95677.1
AY480045.1 32 13708 AAR95678.1
AY480046.1 32 13833 AAR95679.1
AY480047.1 32 14331 AAR95680.1
AY480048.1 32 13728 AAR95681.1
AY480049.1 32 13757 AAR95682.1
AY480050.1 32 13771 AAR95683.1
AY480051.1 32 13879 AAR95684.1
BC007597.1 1 3196 AAH07597.1
U53204.1 33 13882 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 BOP1 SCRT1 ADCK5 MIR6893 LOC101928902 TONSL SLC39A4 MIR6848 MIR939 FOXH1 MROH1 RECQL4 MFSD3 MIR6849 KIFC2 PARP10 LRRC14 GPT CYC1 MIR6846 FBXL6 LOC101928953 SLC52A2 DGAT1 GRINA TMEM249 MIR1234 HGH1 GPAA1 SPATC1 PLEC MIR7112 WDR97 CPSF1 MAF1 SHARPIN EXOSC4 CYHR1 HSF1 MIR6847 SMPD5 VPS28 PPP1R16A SCX OPLAH TONSL-AS1 MIR661
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss BOP1 SCRT1 ADCK5 MIR6893 LOC101928902 TONSL SLC39A4 MIR6848 MIR939 FOXH1 MROH1 RECQL4 MFSD3 MIR6849 KIFC2 PARP10 LRRC14 GPT CYC1 MIR6846 FBXL6 LOC101928953 SLC52A2 DGAT1 GRINA TMEM249 MIR1234 HGH1 GPAA1 SPATC1 PLEC MIR7112 WDR97 CPSF1 MAF1 SHARPIN EXOSC4 CYHR1 HSF1 MIR6847 SMPD5 VPS28 PPP1R16A SCX OPLAH TONSL-AS1 MIR661
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss MIR6846 GRINA EPPK1 HGH1 GPAA1 SPATC1 PLEC WDR97 MAF1 SHARPIN MROH1 EXOSC4 MIR6847 SMPD5 PARP10 OPLAH CYC1 MIR661
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion MIR6846 GRINA EPPK1 GPAA1 SPATC1 PLEC WDR97 MAF1 SHARPIN EXOSC4 MIR6847 SMPD5 PARP10 OPLAH CYC1 MIR661
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion MIR6846 GRINA EPPK1 LOC642574 MIR937 SPATC1 PLEC PUF60 EXOSC4 MIR6847 MIR6845 SMPD5 NRBP2 PARP10 OPLAH SCRIB MIR661
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain MIR6846 GRINA GPAA1 SPATC1 PLEC WDR97 MAF1 SHARPIN EXOSC4 MIR6847 SMPD5 PARP10 OPLAH CYC1 MIR661

Back To Top

Related Products