AutismKB 2.0

Annotation Detail for CBL


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Basic Information Top
Gene Symbol:CBL ( C-CBL,CBL2,RNF55 )
Gene Full Name: Cas-Br-M (murine) ecotropic retroviral transforming sequence
Band: 11q23.3
Quick LinksEntrez ID:867; OMIM: 165360; Uniprot ID:CBL_HUMAN; ENSEMBL ID: ENSG00000110395; HGNC ID: 1541
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
141Phosphotyrosine.
197N6-acetyllysine.
371Phosphotyrosine; by INSR.
452Phosphoserine.
455Phosphotyrosine.
552Phosphotyrosine.
667Phosphoserine.
668Phosphoserine (By similarity).
669Phosphoserine.
674Phosphotyrosine.
675Phosphoserine.
700Phosphotyrosine.
731Phosphotyrosine; by SRC.
774Phosphotyrosine.
900Phosphoserine.
Location(AA) Modifications Resource
337PhosphotyrosinePhospho.ELM 6.0
368PhosphotyrosinePhospho.ELM 6.0
371Phosphotyrosine (by INSR).Swiss-Prot 53.0
371Phosphotyrosine (EGFR;InsR)Phospho.ELM 6.0
552PhosphotyrosinePhospho.ELM 6.0
552Phosphotyrosine.Swiss-Prot 53.0
667PhosphoserinePhospho.ELM 6.0
667Phosphoserine.Swiss-Prot 53.0
669Phosphoserine.Swiss-Prot 53.0
669PhosphoserinePhospho.ELM 6.0
674Phosphotyrosine.Swiss-Prot 53.0
674PhosphotyrosinePhospho.ELM 6.0
675Phosphoserine.Swiss-Prot 53.0
675PhosphoserinePhospho.ELM 6.0
700Phosphotyrosine (Fyn;Lck;Abl;)Phospho.ELM 6.0
700Phosphotyrosine.Swiss-Prot 53.0
731Phosphotyrosine (Fyn;Lck;Syk;)Phospho.ELM 6.0
774Phosphotyrosine (Fyn;Lck;Abl;)Phospho.ELM 6.0
774Phosphotyrosine.Swiss-Prot 53.0
774Phosphotyrosine (Fyn;Syk;Yes)Phospho.ELM 6.0
900Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
50Phosphothreonine(PKC)HMM predict
150N-linkedHMM predict
171Phosphoserine(CDK)HMM predict
356Phosphothreonine(CDC2)HMM predict
404S-palmitoylHMM predict
455Phosphotyrosine(Syk)HMM predict
455SulfotyrosineHMM predict
483Phosphoserine(ATM)HMM predict
483Phosphoserine(IKK)HMM predict
483Phosphoserine(CDC2)HMM predict
483PhosphoserineHMM predict
492O-linkedHMM predict
514Phosphoserine(IKK)HMM predict
514O-linkedHMM predict
601Phosphoserine(IKK)HMM predict
605O-linkedHMM predict
606Phosphoserine(CK1)HMM predict
606Phosphoserine(ATM)HMM predict
615Phosphothreonine(PKC)HMM predict
642Phosphoserine(CAMK2)HMM predict
650N-linkedHMM predict
700Phosphotyrosine(Syk)HMM predict
700PhosphotyrosineHMM predict
700Phosphotyrosine(INSR)HMM predict
700Phosphotyrosine(Abl)HMM predict
702Phosphothreonine(CDK)HMM predict
702Phosphothreonine(MAPK)HMM predict
714Phosphoserine(IKK)HMM predict
731Phosphotyrosine(Syk)HMM predict
731Phosphotyrosine(INSR)HMM predict
743Phosphoserine(IKK)HMM predict
745O-linkedHMM predict
767Phosphoserine(CK2)HMM predict
774SulfotyrosineHMM predict
774PhosphotyrosineHMM predict
774Phosphotyrosine(Syk)HMM predict
774Phosphotyrosine(Jak)HMM predict
774Phosphotyrosine(INSR)HMM predict
795N-linkedHMM predict
812N-linkedHMM predict
844O-linkedHMM predict
849O-linkedHMM predict
849O-linkedHMM predict
852O-linkedHMM predict
852O-linkedHMM predict
866Phosphoserine(ATM)HMM predict
897Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005188
  • Location:chr11 118582199-118684067
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 118581668 118581962 294 385
CTCF CD4SISSRdata 118581668 118581962 294 385
ER Fulvestrant-MCF7GSE14664 118580078 118580111 33 2105
Oct1 HelaGSE14283 118580079 118580117 38 2102
hScc1 BcellGSE12603 118581643 118582057 414 350
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 118660558 118660807 249 0
CTCF CD4SISSRdata 118660558 118660807 249 0
CTCF JurkatGSE12889 118660569 118660742 173 0
ER Fulvestrant-MCF7GSE14664 118584339 118584373 34 0
Fos K562GSE19551 118594244 118594927 683 0
H3K4me3 colorectalcancer 118582867 118583261 394 0
H3ac HepG2E 118582535 118583261 726 0
Oct1 HelaGSE14283 118612510 118612580 70 0
Oct1 HelaGSE14283 118640368 118640404 36 0
hScc1 BcellGSE12603 118660510 118661289 779 0
hScc1 CdLSGSE12603 118581480 118583005 1525 0
hScc1 CdLSGSE12603 118636536 118636819 283 0
hScc1 CdLSGSE12603 118638495 118638808 313 0
hScc1 CdLSGSE12603 118660510 118660986 476 0
p63 keratinocytesGSE17611 118605377 118606061 684 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
5297 mRNA CBL chr11 118582199 118684068 102 EST chr11 118683966 118684784 Non-exonic Bidirectional (NOB) pairs

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


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