AutismKB 2.0

Annotation Detail for CKB


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Basic Information Top
Gene Symbol:CKB ( B-CK,CKBB )
Gene Full Name: creatine kinase, brain
Band: 14q32.33
Quick LinksEntrez ID:1152; OMIM: 123280; Uniprot ID:KCRB_HUMAN; ENSEMBL ID: ENSG00000166165; HGNC ID: 1991
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
4Phosphoserine.
35Phosphothreonine.
39Phosphotyrosine (By similarity).
125Phosphotyrosine (By similarity).
164Phosphoserine (By similarity).
199Phosphoserine.
Location(AA) Modifications Resource
164Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
46Phosphoserine(PKG)HMM predict
71Phosphothreonine(PKC)HMM predict
81PhosphoserineHMM predict
82Phosphotyrosine(Syk)HMM predict
133Phosphothreonine(PKC)HMM predict
199Phosphoserine(MAPK)HMM predict
222N-linkedHMM predict
279Phosphotyrosine(Jak)HMM predict
377MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001823
  • Location:chr14 103055748-103058922
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 103058637 103059450 813 121
Fos K562GSE19551 103058880 103059153 273 94
hScc1 BcellGSE12603 103058791 103059311 520 129
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 103054727 103054949 222 911
CTCF CD4SISSRdata 103054727 103054949 222 911
CTCF G2GSE9613 103049349 103049731 382 6209
CTCF G2GSE9613 103054622 103055551 929 662
Gata1 K562GSE18868 103055051 103055759 708 344
Gata2 K562GSE18868 103054741 103055761 1020 498
Myc K562GSE19551 103049504 103049723 219 6135
Rb GrowingGSE19898 103055163 103055322 159 506
hScc1 BcellGSE12603 103054622 103055118 496 879
hScc1 CdLSGSE12603 103054664 103055214 550 810
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 103056802 103057795 993 0
Rb SenescentGSE19898 103057268 103057574 306 0
hScc1 BcellGSE12603 103056080 103057795 1715 0
hScc1 CdLSGSE12603 103057373 103057951 578 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