AutismKB 2.0

Annotation Detail for L3MBTL2


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Basic Information Top
Gene Symbol:L3MBTL2 ( H-l(3)mbt-l,L3MBT )
Gene Full Name: l(3)mbt-like 2 (Drosophila)
Band: 22q13.2
Quick LinksEntrez ID:83746; OMIM: 611865; Uniprot ID:LMBL2_HUMAN; ENSEMBL ID: ENSG00000100395; HGNC ID: 18594
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
12Phosphoserine.
13Phosphoserine.
66Phosphothreonine.
76Phosphothreonine.
683Phosphoserine.
688Phosphoserine.
689Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
6PhosphoserineHMM predict
6Phosphoserine(IKK)HMM predict
10Phosphothreonine(MAPK)HMM predict
39Phosphoserine(ATM)HMM predict
42O-linkedHMM predict
47Phosphotyrosine(Syk)HMM predict
47Phosphotyrosine(INSR)HMM predict
52Phosphoserine(CK2)HMM predict
52Phosphoserine(CK1)HMM predict
67Phosphoserine(MAPK)HMM predict
67Phosphoserine(CDC2)HMM predict
73O-linkedHMM predict
83Phosphoserine(IKK)HMM predict
83Phosphoserine(ATM)HMM predict
119Phosphoserine(IKK)HMM predict
119Phosphoserine(CK1)HMM predict
120Phosphoserine(CDK)HMM predict
137Phosphothreonine(PKC)HMM predict
158Phosphoserine(ATM)HMM predict
362Phosphoserine(ATM)HMM predict
503Phosphotyrosine(Syk)HMM predict
519Phosphoserine(IKK)HMM predict
577SulfotyrosineHMM predict
611Phosphothreonine(MAPK)HMM predict
619Phosphothreonine(PKC)HMM predict
661Phosphoserine(PKG)HMM predict
661Phosphoserine(PKA)HMM predict
662Phosphoserine(PKG)HMM predict
688O-linkedHMM predict
689Phosphoserine(CDC2)HMM predict
695Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
17520 mRNA L3MBTL2 chr22 39925812 39951774 452 mRNA L3MBTL2 chr22 39929625 39937860Sense/Antisense (SA) pairs

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