AutismKB 2.0

Annotation Detail for KLHL13


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Basic Information Top
Gene Symbol:KLHL13 ( BKLHD2,FLJ10262,MGC74791 )
Gene Full Name: kelch-like 13 (Drosophila)
Band: Xq24
Quick LinksEntrez ID:90293; OMIM: 300655; Uniprot ID:KLH13_HUMAN; ENSEMBL ID: ENSG00000003096; HGNC ID: 22931
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
156N-linkedHMM predict
247Phosphothreonine(PKC)HMM predict
267Phosphotyrosine(Syk)HMM predict
406Phosphothreonine(PKC)HMM predict
428Phosphotyrosine(SRC)HMM predict
435Phosphotyrosine(Abl)HMM predict
500Phosphotyrosine(Syk)HMM predict
508Phosphotyrosine(Syk)HMM predict
509PhosphotyrosineHMM predict
539Phosphotyrosine(INSR)HMM predict
592Phosphothreonine(MAPK)HMM predict
592O-linkedHMM predict
592O-linkedHMM predict
594PhosphoserineHMM predict
594Phosphoserine(CDC2)HMM predict
594O-linkedHMM predict
596O-linkedHMM predict
599Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_033495
  • Location:chrX 116915804-116990880
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 117009812 117010236 424 19144
Nanog ESGSE20650 116990741 116991115 374 48
RARA MCF7GSE15244 117009718 117010342 624 19150
TFAP2C MCF7GSE21234 116991240 116991499 259 489
TFAP2C MCF7GSE21234 117009765 117010424 659 19214
hScc1 CdLSGSE12603 117003066 117003402 336 12354
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 116903423 116903561 138 12313
Oct1 H2O2-HelaGSE14283 116913260 116913289 29 2530
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 116944715 116945074 359 0
ER E2-MCF7GSE14664 116941713 116941754 41 0
FoxA1 MCF7MACSdata 116987283 116987590 307 0
Oct1 HelaGSE14283 116941709 116941748 39 0
RARA MCF7GSE15244 116987194 116988008 814 0
TFAP2C MCF7GSE21234 116987184 116987806 622 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