AutismKB 2.0

Annotation Detail for MBD1


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Basic Information Top
Gene Symbol:MBD1 ( CXXC3,PCM1,RFT )
Gene Full Name: methyl-CpG binding domain protein 1
Band: 18q21.1
Quick LinksEntrez ID:4152; OMIM: 156535; Uniprot ID:MBD1_HUMAN; ENSEMBL ID: ENSG00000141644; HGNC ID: 6916
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
52Phosphotyrosine.
88Nuclear localization signal (Potential).
295Phosphoserine.
301Phosphothreonine.
391Phosphoserine.
399Phosphoserine.
422N6-acetyllysine.
Location(AA) Modifications Resource
52Phosphotyrosine.Swiss-Prot 53.0
52PhosphotyrosinePhospho.ELM 6.0
499Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO).Swiss-Prot 53.0
538Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO).Swiss-Prot 53.0
Location(AA) Modification Resource
35Phosphotyrosine(Syk)HMM predict
35Phosphotyrosine(EGFR)HMM predict
95Phosphothreonine(PKC)HMM predict
126Phosphoserine(IKK)HMM predict
210S-palmitoylHMM predict
228S-palmitoylHMM predict
262S-palmitoylHMM predict
295Phosphoserine(ATM)HMM predict
295O-linkedHMM predict
297Phosphoserine(CDC2)HMM predict
311PhosphoserineHMM predict
311Phosphoserine(MAPK)HMM predict
311Phosphoserine(ATM)HMM predict
311Phosphoserine(CDC2)HMM predict
356S-palmitoylHMM predict
357S-palmitoylHMM predict
399O-linkedHMM predict
410Phosphoserine(CDC2)HMM predict
411Phosphoserine(PKA)HMM predict
465PhosphoserineHMM predict
465Phosphoserine(CDC2)HMM predict
465Phosphoserine(CDK)HMM predict
505Phosphothreonine(CK2)HMM predict
518Phosphoserine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002384
  • Location:chr18 46049214-46061843
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46048913 46049100 187 208
CTCF CD4SISSRdata 46048913 46049100 187 208
CTCF JurkatGSE12889 46048883 46049060 177 243
hScc1 BcellGSE12603 46048666 46049255 589 254
No data
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


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