AutismKB 2.0

Annotation Detail for RBPJ


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Basic Information Top
Gene Symbol:RBPJ ( CBF1,IGKJRB,IGKJRB1,KBF2,MGC61669,RBP-J,RBPJK,RBPSUH,SUH,csl )
Gene Full Name: recombination signal binding protein for immunoglobulin kappa J region
Band: 4p15.2
Quick LinksEntrez ID:3516; OMIM: 147183; Uniprot ID:SUH_HUMAN; ENSEMBL ID: ENSG00000168214; HGNC ID: 5724
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
131Phosphoserine(ATM)HMM predict
173Phosphoserine(PKG)HMM predict
214Phosphoserine(ATM)HMM predict
230Phosphoserine(CK1)HMM predict
247Phosphothreonine(PKC)HMM predict
281Phosphoserine(ATM)HMM predict
341Phosphotyrosine(Syk)HMM predict
352Phosphothreonine(MAPK)HMM predict
377N-linkedHMM predict
381N-linkedHMM predict
395Phosphotyrosine(EGFR)HMM predict
438O-linkedHMM predict
441O-linkedHMM predict
445O-linkedHMM predict
445O-linkedHMM predict
464N-linkedHMM predict
465Phosphoserine(PKG)HMM predict
466Phosphoserine(ATM)HMM predict
471N-linkedHMM predict
474N-linkedHMM predict
476N-linkedHMM predict
481Phosphotyrosine(INSR)HMM predict
485O-linkedHMM predict
486O-linkedHMM predict
487N-linkedHMM predict
488O-linkedHMM predict
489O-linkedHMM predict
490Phosphoserine(IKK)HMM predict
490O-linkedHMM predict
492O-linkedHMM predict
493O-linkedHMM predict
494O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015874
  • Location:chr4 25931545-26042375
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 26051686 26051938 252 9437
CTCF G2GSE9613 26053793 26053977 184 11510
CTCF G2GSE9613 26061001 26061376 375 18813
Oct1 HelaGSE14283 26055258 26055329 71 12918
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 25935887 25936100 213 0
CTCF G2GSE9613 25940989 25941326 337 0
CTCF G2GSE9613 25942366 25942502 136 0
CTCF G2GSE9613 26021378 26021748 370 0
ER MCF7GSE19013 25965188 25965680 492 0
ER MCF7GSE19013 26007428 26007891 463 0
FOXA1 MCF7GSE15244 25983135 25983662 527 0
FOXA1 eGFPGSE10845 25983135 25983662 527 0
H3K4me3 colorectalcancer 25932374 25932908 534 0
H3ac HepG2E 25932306 25932871 565 0
KLF4 hESGSE17917 25995570 25995740 170 0
Myc K562GSE19551 25956928 25957438 510 0
Oct1 HelaGSE14283 26004753 26004782 29 0
Oct1 HelaGSE14283 26019369 26019401 32 0
Rb GrowingGSE19898 25967495 25967675 180 0
TFAP2C MCF7GSE21234 25983326 25983705 379 0
hScc1 BcellGSE12603 25935677 25936448 771 0
hScc1 BcellGSE12603 25941098 25941326 228 0
hScc1 BcellGSE12603 26021415 26021816 401 0
hScc1 CdLSGSE12603 25935785 25936100 315 0
hScc1 CdLSGSE12603 26021340 26021816 476 0
hScc1 G2GSE9613 25966383 25966602 219 0
hScc1 G2GSE9613 26021378 26021793 415 0
p130 SenescentGSE19898 25937517 25937906 389 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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