AutismKB 2.0

Annotation Detail for PLEC


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Basic Information Top
Gene Symbol:PLEC ( EBS1,EBSO,HD1,PCN,PLEC1,PLEC1b,PLTN )
Gene Full Name: plectin
Band: 8q24.3
Quick LinksEntrez ID:5339; OMIM: 601282; Uniprot ID:PLEC_HUMAN; ENSEMBL ID: ENSG00000178209; HGNC ID: 9069
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
125Phosphoserine.
149Phosphoserine.
187N6-acetyllysine.
201Phosphoserine (By similarity).
720Phosphoserine.
782Phosphoserine.
1435Phosphoserine.
1444Phosphoserine.
1644Phosphoserine.
1721Phosphoserine.
1732Phosphoserine.
2516Phosphoserine.
2755Phosphoserine.
2814Phosphothreonine.
2841N6-acetyllysine.
3033Phosphotyrosine (By similarity).
3091N6-acetyllysine.
3362Phosphotyrosine.
3420N6-acetyllysine.
4030Phosphothreonine.
4155Phosphotyrosine.
4382Phosphoserine.
4384Phosphoserine.
4385Phosphoserine.
4386Phosphoserine.
4389Phosphoserine.
4390Phosphoserine.
4391Phosphoserine (By similarity).
4392Phosphoserine.
4393Phosphotyrosine.
4396Phosphoserine.
4400Phosphoserine.
4402Phosphothreonine.
4411Phosphothreonine.
4539Phosphothreonine; by CDK1 (By
4611Phosphotyrosine.
4613Phosphoserine.
4615Phosphotyrosine.
4618Phosphoserine.
4620Phosphoserine.
4622Phosphoserine.
4623Phosphothreonine.
4626Phosphoserine.
4628Phosphothreonine.
4642Phosphoserine.
4658Phosphoserine.
4675Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000445
  • Location:chr8 145061308-145121530
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 145121061 145122280 1219 140
p130 shRbQuiescentGSE19898 145121325 145121859 534 62
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 145120975 145121251 276 0
hScc1 BcellGSE12603 145117740 145123725 5985 0
hScc1 CdLSGSE12603 145119473 145119934 461 0
hScc1 CdLSGSE12603 145120865 145121408 543 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018