AutismKB 2.0

Annotation Detail for KLHL31


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Basic Information Top
Gene Symbol:KLHL31 ( BKLHD6,KBTBD1,KLHL,bA345L23.2 )
Gene Full Name: kelch-like 31 (Drosophila)
Band: 6p12.1
Quick LinksEntrez ID:401265; OMIM: 610749; Uniprot ID:KLH31_HUMAN; ENSEMBL ID: ENSG00000124743; HGNC ID: 21353
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N,N,N-trimethylalanine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
450Phosphothreonine(MAPK)HMM predict
492Phosphoserine(IKK)HMM predict
498N-linkedHMM predict
516Phosphotyrosine(Jak)HMM predict
617N-linkedHMM predict
625O-linkedHMM predict
625O-linkedHMM predict
626Phosphoserine(PKG)HMM predict
626Phosphoserine(IKK)HMM predict
626Phosphoserine(PKB)HMM predict
626Phosphoserine(CK1)HMM predict
628O-linkedHMM predict
628O-linkedHMM predict
629Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001003760
  • Location:chr6 53624355-53628028
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 53638352 53638607 255 10451
CTCF G2GSE9613 53642532 53642746 214 14611
Jun K562GSE19551 53645992 53646334 342 18135
P300 T30-glioblastomaGSE21026 53645812 53646440 628 18098
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 53624053 53624400 347 129
H3ac HepG2E 53623804 53624436 632 236
USF2 HepG2E 53623835 53624400 565 238
hScc1 CdLSGSE12603 53623804 53624545 741 181
hScc1 G2GSE9613 53623835 53624614 779 131
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 53623871 53625226 1355 0
HIF1 HypoHepG2 53624334 53624986 652 0
PHF8 293TGSE20725 53624365 53625249 884 0
hScc1 BcellGSE12603 53623908 53624832 924 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