AutismKB 2.0

Annotation Detail for KLHL28


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Basic Information Top
Gene Symbol:KLHL28 ( BTBD5,FLJ20081 )
Gene Full Name: kelch-like 28 (Drosophila)
Band: 14q21.2
Quick LinksEntrez ID:54813; OMIM: NA; Uniprot ID:KLH28_HUMAN; ENSEMBL ID: ENSG00000179454; HGNC ID: 19741
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
8Phosphotyrosine(SRC)HMM predict
8Phosphotyrosine(INSR)HMM predict
12N-linkedHMM predict
130Phosphoserine(ATM)HMM predict
269Phosphoserine(PKA)HMM predict
308N-linkedHMM predict
355PhosphoserineHMM predict
373N-linkedHMM predict
495Phosphoserine(CK1)HMM predict
542Phosphothreonine(PKC)HMM predict
565AsparagineHMM predict
567GlycineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017658
  • Location:chr14 44467778-44500899
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PolII HeLaGSE12783 44499886 44502088 2202 88
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 44500110 44501603 1493 0
FOXA1 MCF7GSE15244 44500210 44501333 1123 0
GABP HelaGSE8489 44499607 44501242 1635 0
H3K4me3 colorectalcancer 44499249 44500974 1725 0
H3ac HepG2E 44499282 44501083 1801 0
Oct1 H2O2-HelaGSE14283 44491325 44491361 36 0
Oct1 HelaGSE14283 44491325 44491361 36 0
P300 T30-glioblastomaGSE21026 44500440 44501309 869 0
RARA MCF7GSE15244 44500210 44501242 1032 0
RARG MCF7GSE15244 44499927 44501242 1315 0
USF2 HepG2E 44500262 44501394 1132 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