AutismKB 2.0

Annotation Detail for MBD5


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Basic Information Top
Gene Symbol:MBD5 ( FLJ11113,FLJ30517,KIAA1461,MRD1 )
Gene Full Name: methyl-CpG binding domain protein 5
Band: 2q23.2
Quick LinksEntrez ID:55777; OMIM: 611472; Uniprot ID:MBD5_HUMAN; ENSEMBL ID: ENSG00000204406; HGNC ID: 20444
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
36Phosphotyrosine(INSR)HMM predict
36Phosphotyrosine(Abl)HMM predict
38Phosphoserine(CDC2)HMM predict
38Phosphoserine(CDK)HMM predict
100S-palmitoylHMM predict
127Phosphoserine(CDC2)HMM predict
133N-linkedHMM predict
140O-linkedHMM predict
140O-linkedHMM predict
144Phosphothreonine(PKC)HMM predict
144Phosphothreonine(MAPK)HMM predict
150N-linkedHMM predict
189Phosphoserine(ATM)HMM predict
205Phosphoserine(CK1)HMM predict
223Phosphoserine(CDC2)HMM predict
223Phosphoserine(MAPK)HMM predict
227O-linkedHMM predict
227Phosphoserine(CK1)HMM predict
232Phosphotyrosine(INSR)HMM predict
262N-linkedHMM predict
269N-linkedHMM predict
271Phosphothreonine(CDK)HMM predict
274Phosphoserine(CDC2)HMM predict
274Phosphoserine(MAPK)HMM predict
277O-linkedHMM predict
300Phosphoserine(CDC2)HMM predict
307Phosphoserine(CDC2)HMM predict
307Phosphoserine(CDK)HMM predict
377N-linkedHMM predict
429Phosphoserine(IKK)HMM predict
432O-linkedHMM predict
433O-linkedHMM predict
433Phosphoserine(IKK)HMM predict
435O-linkedHMM predict
435Phosphoserine(CDC2)HMM predict
435Phosphoserine(CDK)HMM predict
437O-linkedHMM predict
437Phosphoserine(CDC2)HMM predict
437Phosphoserine(ATM)HMM predict
437Phosphoserine(IKK)HMM predict
437PhosphoserineHMM predict
441Phosphoserine(CDC2)HMM predict
456Phosphoserine(CDC2)HMM predict
462Phosphoserine(CK1)HMM predict
463O-linkedHMM predict
464Phosphoserine(IKK)HMM predict
466Phosphoserine(CK1)HMM predict
467Phosphoserine(CK1)HMM predict
492Phosphoserine(CDC2)HMM predict
492Phosphoserine(CDK)HMM predict
492Phosphoserine(MAPK)HMM predict
495O-linkedHMM predict
496Phosphothreonine(PKC)HMM predict
499O-linkedHMM predict
499Phosphoserine(CDC2)HMM predict
499PhosphoserineHMM predict
507Phosphoserine(CDC2)HMM predict
507Phosphoserine(CDK)HMM predict
507Phosphoserine(ATM)HMM predict
509O-linkedHMM predict
518Phosphotyrosine(Syk)HMM predict
535Phosphothreonine(MAPK)HMM predict
537O-linkedHMM predict
538O-linkedHMM predict
543O-linkedHMM predict
545O-linkedHMM predict
597N-linkedHMM predict
598N-linkedHMM predict
601O-linkedHMM predict
602Phosphoserine(CK1)HMM predict
603O-linkedHMM predict
603Phosphoserine(CK1)HMM predict
604N-linkedHMM predict
622O-linkedHMM predict
702Phosphoserine(IKK)HMM predict
709Phosphoserine(IKK)HMM predict
718N-linkedHMM predict
726O-linkedHMM predict
745N-linkedHMM predict
751N-linkedHMM predict
773Phosphoserine(CDC2)HMM predict
797Phosphoserine(ATM)HMM predict
814O-linkedHMM predict
817O-linkedHMM predict
817O-linkedHMM predict
817Phosphoserine(CK1)HMM predict
819O-linkedHMM predict
833N-linkedHMM predict
842O-linkedHMM predict
842Phosphoserine(ATM)HMM predict
842Phosphoserine(IKK)HMM predict
847O-linkedHMM predict
853O-linkedHMM predict
862Phosphothreonine(PKA)HMM predict
903N-linkedHMM predict
907N-linkedHMM predict
908N-linkedHMM predict
915N-linkedHMM predict
955N-linkedHMM predict
956N-linkedHMM predict
960N-linkedHMM predict
1034Phosphothreonine(PKA)HMM predict
1046N-linkedHMM predict
1109N-linkedHMM predict
1110O-linkedHMM predict
1112O-linkedHMM predict
1233N-linkedHMM predict
1318Phosphoserine(IKK)HMM predict
1324Phosphoserine(CK1)HMM predict
1324Phosphoserine(IKK)HMM predict
1351Phosphoserine(CDC2)HMM predict
1357Phosphoserine(IKK)HMM predict
1359Phosphoserine(CK1)HMM predict
1359Phosphoserine(CK2)HMM predict
1369Phosphoserine(CDC2)HMM predict
1369Phosphoserine(CDK)HMM predict
1369Phosphoserine(IKK)HMM predict
1371Phosphoserine(CK1)HMM predict
1463Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018328
  • Location:chr2 148932507-148987511
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 149001925 149002113 188 14508
CTCF G2GSE9613 149007348 149007611 263 19968
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 148983540 148983869 329 0
CTCF CD4SISSRdata 148983540 148983869 329 0
CTCF G2GSE9613 148957644 148957795 151 0
CTCF G2GSE9613 148983451 148983815 364 0
Myc K562GSE19551 148975670 148975970 300 0
hScc1 BcellGSE12603 148983265 148983889 624 0
hScc1 CdLSGSE12603 148983196 148983889 693 0
hScc1 G2GSE9613 148983265 148983815 550 0
p130 SenescentGSE19898 148983637 148983798 161 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


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