AutismKB 2.0

Annotation Detail for LRRC8E


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Basic Information Top
Gene Symbol:LRRC8E ( FLJ23420 )
Gene Full Name: leucine rich repeat containing 8 family, member E
Band: 19p13.2
Quick LinksEntrez ID:80131; OMIM: 612891; Uniprot ID:LRC8E_HUMAN; ENSEMBL ID: ENSG00000171017; HGNC ID: 26272
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
63N-linked (GlcNAc...) (Potential).
302N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
63N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
302N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
63N-linkedHMM predict
167Phosphoserine(PKG)HMM predict
180Phosphothreonine(PKC)HMM predict
215O-linkedHMM predict
302N-linkedHMM predict
373SulfotyrosineHMM predict
470Phosphoserine(CDC2)HMM predict
527Phosphothreonine(PKC)HMM predict
735Phosphoserine(ATM)HMM predict
748Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_025061
  • Location:chr19 7859389-7872908
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7859059 7859552 493 84
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me2 HCT116GSE10453 7873559 7873739 180 741
H3ac HepG2E 7873559 7873846 287 794
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 7859132 7859924 792 0
Rb QuiescentGSE19898 7871032 7871120 88 0
TFAP2C MCF7GSE21234 7865524 7866423 899 0
TFAP2C MCF7GSE21234 7868258 7868691 433 0
p130 QuiescentGSE19898 7859366 7859598 232 0
p130 QuiescentGSE19898 7859686 7859944 258 0
p130 SenescentGSE19898 7859358 7859728 370 0
p130 shRbSenescentGSE19898 7859358 7859779 421 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