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.8:143915929 on build GRCh38
Cytoband
8q24.3
Assay ID Hs01217558_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 14022 NP_000436.2
NM_201378.3 32 13907 NP_958780.1
NM_201379.2 32 13975 NP_958781.1
NM_201380.3 32 14473 NP_958782.1
NM_201381.2 32 13870 NP_958783.1
NM_201382.3 32 13960 NP_958784.1
NM_201383.2 32 13913 NP_958785.1
NM_201384.2 32 14021 NP_958786.1
XM_005250976.3 33 14515 XP_005251033.1
XM_005250978.3 33 14040 XP_005251035.1
XM_005250979.4 33 13999 XP_005251036.1
XM_005250980.4 33 14084 XP_005251037.1
XM_005250981.3 33 13921 XP_005251038.1
XM_005250982.3 33 13914 XP_005251039.1
XM_005250983.2 32 13838 XP_005251040.1
XM_005250984.4 33 13903 XP_005251041.1
XM_006716588.3 34 14092 XP_006716651.1
XM_006716589.2 33 13853 XP_006716652.1
XM_006716590.3 33 13963 XP_006716653.1
XM_011517130.2 33 14028 XP_011515432.1
XM_011517131.2 32 13947 XP_011515433.1
XM_011517132.2 32 10655 XP_011515434.1
AY480044.1 32 13979 AAR95677.1
AY480045.1 32 13850 AAR95678.1
AY480046.1 32 13975 AAR95679.1
AY480047.1 32 14473 AAR95680.1
AY480048.1 32 13870 AAR95681.1
AY480049.1 32 13899 AAR95682.1
AY480050.1 32 13913 AAR95683.1
AY480051.1 32 14021 AAR95684.1
BC007597.1 1 3338 AAH07597.1
U53204.1 33 14024 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 SPATC1 ADCK5 SCX KIFC2 MIR6849 LOC101928953 HGH1 MIR939 CPSF1 MIR6847 MIR6848 MROH1 MAF1 LRRC14 TONSL-AS1 SLC52A2 LOC101928902 EXOSC4 CYHR1 GRINA RECQL4 TMEM249 MFSD3 FBXL6 MIR6893 PARP10 FOXH1 SCRT1 SLC39A4 DGAT1 MIR6846 TONSL MIR1234 SHARPIN BOP1 SMPD5 PLEC MIR661 WDR97 HSF1 PPP1R16A OPLAH GPAA1 VPS28 CYC1 MIR7112 GPT
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss SPATC1 ADCK5 SCX KIFC2 MIR6849 LOC101928953 HGH1 MIR939 CPSF1 MIR6847 MIR6848 MROH1 MAF1 LRRC14 TONSL-AS1 SLC52A2 LOC101928902 EXOSC4 CYHR1 GRINA RECQL4 TMEM249 MFSD3 FBXL6 MIR6893 PARP10 FOXH1 SCRT1 SLC39A4 DGAT1 MIR6846 TONSL MIR1234 SHARPIN BOP1 SMPD5 PLEC MIR661 WDR97 HSF1 PPP1R16A OPLAH GPAA1 VPS28 CYC1 MIR7112 GPT
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss SPATC1 PARP10 HGH1 MIR6847 MIR6846 SHARPIN MROH1 MAF1 SMPD5 PLEC MIR661 WDR97 EPPK1 OPLAH GPAA1 EXOSC4 CYC1 GRINA
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion SPATC1 PARP10 MIR6847 MIR6846 SHARPIN MAF1 SMPD5 PLEC MIR661 WDR97 EPPK1 OPLAH GPAA1 EXOSC4 CYC1 GRINA
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion SPATC1 PARP10 SCRIB MIR6847 PUF60 MIR6846 MIR6845 SMPD5 PLEC MIR661 LOC642574 EPPK1 OPLAH NRBP2 EXOSC4 MIR937 GRINA
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain SPATC1 PARP10 MIR6847 MIR6846 SHARPIN MAF1 SMPD5 PLEC MIR661 WDR97 OPLAH GPAA1 EXOSC4 CYC1 GRINA

Back To Top

Related Products