AutismKB 2.0

Annotation Detail for CBLL1


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Basic Information Top
Gene Symbol:CBLL1 ( FLJ23109,HAKAI,MGC163401,MGC163403,RNF188 )
Gene Full Name: Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1
Band: 7q22.3
Quick LinksEntrez ID:79872; OMIM: 606872; Uniprot ID:HAKAI_HUMAN; ENSEMBL ID: ENSG00000105879; HGNC ID: 21225
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
201Phosphoserine.
290Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
12N-linkedHMM predict
65SulfotyrosineHMM predict
65Phosphotyrosine(EGFR)HMM predict
104Phosphothreonine(MAPK)HMM predict
198Phosphothreonine(PKC)HMM predict
214O-linkedHMM predict
253Phosphotyrosine(Abl)HMM predict
253Phosphotyrosine(Syk)HMM predict
253SulfotyrosineHMM predict
278Phosphoserine(PKG)HMM predict
286Phosphothreonine(PKC)HMM predict
290Phosphoserine(IKK)HMM predict
341Phosphotyrosine(Syk)HMM predict
352O-linkedHMM predict
370O-linkedHMM predict
370Phosphoserine(ATM)HMM predict
378O-linkedHMM predict
379O-linkedHMM predict
440Phosphoserine(CDC2)HMM predict
465MethylarginineHMM predict
471Phosphoserine(ATM)HMM predict
473Phosphothreonine(MAPK)HMM predict
473O-linkedHMM predict
473O-linkedHMM predict
474ProlineHMM predict
481ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024814
  • Location:chr7 107171821-107187259
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 107170723 107172388 1665 266
ETS1 JurkatGSE17954 107170442 107172542 2100 330
FOXA1 MCF7GSE15244 107170687 107172282 1595 337
PHF8 293TGSE20725 107170874 107172457 1583 156
PHF8 HeLaGSE20725 107170630 107172290 1660 362
PHF8 Hs68minusFBSGSE20725 107170579 107172447 1868 309
TAF HelaGSE8489 107171238 107171842 604 282
hScc1 BcellGSE12603 107170723 107171238 515 841
hScc1 CdLSGSE12603 107170795 107171384 589 732
hScc1 G2GSE9613 107170651 107172147 1496 423
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 107171549 107174008 2459 0
H3K4me3 colorectalcancer 107172024 107172694 670 0
H3ac HepG2E 107171732 107173759 2027 0
Oct1 HelaGSE14283 107180982 107181055 73 0
TAF HelaGSE8489 107172388 107173502 1114 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