AutismKB 2.0

Annotation Detail for RBBP5


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Basic Information Top
Gene Symbol:RBBP5 ( RBQ3,SWD1 )
Gene Full Name: retinoblastoma binding protein 5
Band: 1q32.1
Quick LinksEntrez ID:5929; OMIM: 600697; Uniprot ID:RBBP5_HUMAN; ENSEMBL ID: ENSG00000117222; HGNC ID: 9888
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
182Phosphoserine.
193Phosphothreonine.
252Phosphothreonine; by CDK1.
281N6-acetyllysine.
350Phosphoserine.
388Phosphoserine.
389Phosphoserine.
497Phosphoserine; by CDK1.
Location(AA) Modifications Resource
252Phosphothreonine (by CDC2).Swiss-Prot 53.0
350Phosphoserine.Swiss-Prot 53.0
388Phosphoserine.Swiss-Prot 53.0
389Phosphoserine.Swiss-Prot 53.0
497Phosphoserine (by CDC2).Swiss-Prot 53.0
Location(AA) Modification Resource
37Phosphothreonine(PKC)HMM predict
138Phosphoserine(ATM)HMM predict
192O-linkedHMM predict
197N-linkedHMM predict
198O-linkedHMM predict
199O-linkedHMM predict
250N-linkedHMM predict
252Phosphothreonine(CDC2)HMM predict
265Phosphotyrosine(INSR)HMM predict
328N-linkedHMM predict
345Phosphotyrosine(Syk)HMM predict
360Phosphoserine(CK1)HMM predict
365Phosphothreonine(CK2)HMM predict
388Phosphoserine(CK2)HMM predict
416Phosphotyrosine(Syk)HMM predict
416Phosphotyrosine(Abl)HMM predict
416Phosphotyrosine(SRC)HMM predict
440Phosphoserine(PKC)HMM predict
441Phosphoserine(IKK)HMM predict
441Phosphoserine(CAMK2)HMM predict
445Phosphoserine(ATM)HMM predict
445Phosphoserine(IKK)HMM predict
497Phosphoserine(CDC2)HMM predict
505O-linkedHMM predict
525Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005057
  • Location:chr1 203322601-203357753
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 203357979 203358273 294 373
CTCF CD4SISSRdata 203357979 203358273 294 373
CTCF G2GSE9613 203357431 203358485 1054 205
ETS1 JurkatGSE17954 203357312 203358555 1243 180
GABP k562GSE8489 203356547 203359087 2540 64
H3K4me3 colorectalcancer 203358337 203358752 415 791
H3ac HepG2E 203358221 203359087 866 901
LIN9 SGSE7516 203357637 203358186 549 158
P300 T30-glioblastomaGSE21026 203357113 203358422 1309 14
PHF8 293TGSE20725 203357176 203358491 1315 80
RARG MCF7GSE15244 203357212 203358819 1607 262
TAF k562GSE8489 203356547 203359087 2540 64
hScc1 BcellGSE12603 203357900 203358186 286 290
hScc1 CdLSGSE12603 203357789 203358411 622 347
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 203355821 203356239 418 0
H3K4me2 HCT116GSE10453 203355458 203356239 781 0
H3K4me2 HCT116GSE10453 203356547 203357466 919 0
H3K4me3 colorectalcancer 203356547 203357637 1090 0
H3ac HepG2E 203355179 203356215 1036 0
H3ac HepG2E 203356547 203357864 1317 0
PHF8 HeLaGSE20725 203357224 203358281 1057 0
RARA MCF7GSE15244 203356673 203358819 2146 0
TAF HelaGSE8489 203356547 203358722 2175 0
TAF k562GSE8489 203355179 203356239 1060 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