AutismKB 2.0

Annotation Detail for MKKS


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Basic Information Top
Gene Symbol:MKKS ( BBS6,HMCS,KMS,MKS )
Gene Full Name: McKusick-Kaufman syndrome
Band: 20p12.2
Quick LinksEntrez ID:8195; OMIM: 604896; Uniprot ID:MKKS_HUMAN; ENSEMBL ID: ENSG00000125863; HGNC ID: 7108
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
14Phosphoserine(IKK)HMM predict
53Phosphotyrosine(Jak)HMM predict
53Phosphotyrosine(INSR)HMM predict
53Phosphotyrosine(EGFR)HMM predict
58O-linkedHMM predict
61O-linkedHMM predict
112Phosphothreonine(MAPK)HMM predict
247O-linkedHMM predict
379N-linkedHMM predict
484O-linkedHMM predict
495Phosphoserine(IKK)HMM predict
504Phosphoserine(ATM)HMM predict
536N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018848
  • Location:chr20 10333832-10360569
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 10348077 10348553 476 0
H3K4me2 HCT116GSE10453 10360231 10360578 347 0
H3ac HepG2E 10359389 10360578 1189 0
USF1 HepG2E 10357781 10358838 1057 0
USF2 HepG2E 10357923 10358838 915 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