AutismKB 2.0

Annotation Detail for KLHL17


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Basic Information Top
Gene Symbol:KLHL17 ( RP11-54O7.6 )
Gene Full Name: kelch-like 17 (Drosophila)
Band: 1p36.33
Quick LinksEntrez ID:339451; OMIM: NA; Uniprot ID:KLH17_HUMAN; ENSEMBL ID: ENSG00000187961; HGNC ID: 24023
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
14Phosphoserine(ATM)HMM predict
19O-linkedHMM predict
126Phosphoserine(CK1)HMM predict
187Phosphoserine(ATM)HMM predict
205Phosphoserine(IKK)HMM predict
256Phosphotyrosine(Syk)HMM predict
256Phosphotyrosine(SRC)HMM predict
256Phosphotyrosine(EGFR)HMM predict
256PhosphotyrosineHMM predict
427Phosphoserine(PKA)HMM predict
444Phosphotyrosine(INSR)HMM predict
465O-linkedHMM predict
471Phosphothreonine(PKC)HMM predict
486Phosphotyrosine(INSR)HMM predict
499Phosphothreonine(PKC)HMM predict
522Phosphoserine(PKG)HMM predict
569Phosphothreonine(PKA)HMM predict
615Phosphoserine(PKA)HMM predict
616Phosphoserine(PKG)HMM predict
631O-linkedHMM predict
634O-linkedHMM predict
636Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198317
  • Location:chr1 885829-890957
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 QuiescentGSE19898 885632 885886 254 71
No data
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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