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          • › Hs00838986_cn
          See other PLEC CNV Assays ›
          Gene Symbol
          PLEC
          Assay Reference Genome
          Location

          Chr.8:143916778 on build GRCh38
          Cytoband
          8q24.3
          Assay ID Hs00838986_cn
          Size
          Availability Made To Order
          Catalog # 4400291
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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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 13173 NP_000436.2
          NM_201378.3 32 13058 NP_958780.1
          NM_201379.2 32 13126 NP_958781.1
          NM_201380.3 32 13624 NP_958782.1
          NM_201381.2 32 13021 NP_958783.1
          NM_201382.3 32 13111 NP_958784.1
          NM_201383.2 32 13064 NP_958785.1
          NM_201384.2 32 13172 NP_958786.1
          XM_005250976.3 33 13666 XP_005251033.1
          XM_005250978.3 33 13191 XP_005251035.1
          XM_005250979.4 33 13150 XP_005251036.1
          XM_005250980.4 33 13235 XP_005251037.1
          XM_005250981.3 33 13072 XP_005251038.1
          XM_005250982.3 33 13065 XP_005251039.1
          XM_005250983.2 32 12989 XP_005251040.1
          XM_005250984.4 33 13054 XP_005251041.1
          XM_006716588.3 34 13243 XP_006716651.1
          XM_006716589.2 33 13004 XP_006716652.1
          XM_006716590.3 33 13114 XP_006716653.1
          XM_011517130.2 33 13179 XP_011515432.1
          XM_011517131.2 32 13098 XP_011515433.1
          XM_011517132.2 32 9806 XP_011515434.1
          AY480044.1 32 13130 AAR95677.1
          AY480045.1 32 13001 AAR95678.1
          AY480046.1 32 13126 AAR95679.1
          AY480047.1 32 13624 AAR95680.1
          AY480048.1 32 13021 AAR95681.1
          AY480049.1 32 13050 AAR95682.1
          AY480050.1 32 13064 AAR95683.1
          AY480051.1 32 13172 AAR95684.1
          BC007597.1 1 2489 AAH07597.1
          U53204.1 33 13175 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 LOC101928953 CYC1 FBXL6 MIR6849 SLC52A2 SCRT1 MROH1 LRRC14 TMEM249 GRINA MIR6847 GPT HSF1 ADCK5 MAF1 EXOSC4 TONSL-AS1 SMPD5 MIR6848 MIR7112 RECQL4 CPSF1 WDR97 SPATC1 MIR1234 PLEC BOP1 SLC39A4 MIR6846 SHARPIN OPLAH PPP1R16A LOC101928902 GPAA1 CYHR1 MIR6893 TONSL VPS28 MIR939 PARP10 KIFC2 MFSD3 SCX MIR661 HGH1 DGAT1 FOXH1
          nsv824795 Chr.8:143915993 - 143917638 on Build GRCh38 Gain PLEC
          nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
          nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss LOC101928953 CYC1 FBXL6 MIR6849 SLC52A2 SCRT1 MROH1 LRRC14 TMEM249 GRINA MIR6847 GPT HSF1 ADCK5 MAF1 EXOSC4 TONSL-AS1 SMPD5 MIR6848 MIR7112 RECQL4 CPSF1 WDR97 SPATC1 MIR1234 PLEC BOP1 SLC39A4 MIR6846 SHARPIN OPLAH PPP1R16A LOC101928902 GPAA1 CYHR1 MIR6893 TONSL VPS28 MIR939 PARP10 KIFC2 MFSD3 SCX MIR661 HGH1 DGAT1 FOXH1
          dgv906n27 Chr.8:143845100 - 144161320 on Build GRCh38 Loss SPATC1 PLEC CYC1 MIR6846 SHARPIN EPPK1 OPLAH MROH1 GPAA1 GRINA MIR6847 MAF1 EXOSC4 PARP10 MIR661 SMPD5 HGH1 WDR97
          nsv612904 Chr.8:143916360 - 143920044 on Build GRCh38 Loss PLEC
          nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion SPATC1 PLEC CYC1 MIR6846 SHARPIN EPPK1 OPLAH GPAA1 GRINA MIR6847 MAF1 EXOSC4 PARP10 MIR661 SMPD5 WDR97
          nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion SPATC1 PLEC LOC642574 MIR6846 PUF60 EPPK1 OPLAH SCRIB NRBP2 GRINA MIR6847 EXOSC4 MIR6845 PARP10 MIR661 SMPD5 MIR937
          dgv12432n54 Chr.8:143902404 - 144007080 on Build GRCh38 Loss GRINA PLEC PARP10 MIR661
          nsv824794 Chr.8:143915958 - 143954439 on Build GRCh38 Gain PLEC MIR661

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          More Information


          Set Membership:

          Intragenic Exonic DGV Variation

          Panther Classification:

          Molecular Function -

          intermediate filament binding protein

          Gene Ontology Categories:

          Function(s) Process(es)

          hemidesmosome assembly
          cell-cell adhesion
          actin binding
          protein binding
          structural constituent of muscle
          ankyrin binding
          poly(A) RNA binding
          cadherin binding involved in cell-cell adhesion

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