AutismKB 2.0

Annotation Detail for TP53BP1


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Basic Information Top
Gene Symbol:TP53BP1 ( 53BP1,FLJ41424,MGC138366,p202 )
Gene Full Name: tumor protein p53 binding protein 1
Band: 15q15.3
Quick LinksEntrez ID:7158; OMIM: 605230; Uniprot ID:TP53B_HUMAN; ENSEMBL ID: ENSG00000067369; HGNC ID: 11999
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
105Phosphoserine.
166Phosphoserine.
176Phosphoserine (Probable).
178Phosphoserine (Probable).
222Phosphoserine.
265Phosphoserine.
294Phosphoserine.
302Phosphothreonine.
316Phosphoserine.
366Phosphoserine.
380Phosphoserine.
382Phosphothreonine.
394Phosphothreonine.
395Phosphoserine.
398Phosphoserine.
452Phosphoserine.
500Phosphoserine.
522Phosphotyrosine.
523Phosphoserine.
525Phosphoserine.
543Phosphothreonine.
548Phosphothreonine.
552Phosphoserine.
566Phosphoserine.
580Phosphoserine.
625Phosphoserine.
635Phosphoserine.
639Phosphoserine.
640Phosphoserine.
659Phosphoserine.
660Phosphoserine.
662Phosphoserine.
750Phosphothreonine.
751Phosphoserine.
754Phosphoserine.
755Phosphoserine.
771Phosphoserine.
782Phosphoserine.
784Phosphoserine.
809Phosphoserine.
831Phosphoserine.
834Phosphoserine.
855Phosphothreonine.
876Phosphoserine.
877Phosphoserine.
892Phosphoserine.
993Phosphoserine.
996Phosphothreonine.
999Phosphoserine.
1002Phosphoserine.
1020Phosphothreonine.
1028Phosphoserine.
1055Phosphothreonine.
1056Phosphothreonine.
1068Phosphoserine.
1094Phosphoserine.
1101Phosphoserine.
1104Phosphoserine.
1113Phosphoserine.
1114Phosphoserine.
1171Phosphothreonine.
1214Phosphothreonine.
1216Phosphoserine.
1219Phosphoserine.
1290Phosphoserine.
1316Phosphoserine.
1317Phosphoserine.
1320Phosphoserine.
1362Phosphoserine.
1368Phosphoserine.
1372Phosphothreonine.
1403GAR.
1426Phosphoserine.
1430Phosphoserine.
1435Phosphoserine.
1460Phosphoserine.
1462Phosphoserine.
1474Phosphoserine.
1609Phosphothreonine.
1618Phosphoserine.
1631Phosphoserine.
1634Phosphoserine.
1635Phosphoserine.
1638Phosphothreonine.
1640Phosphothreonine.
1643Phosphoserine.
1645Phosphoserine.
1646Phosphoserine.
1647Phosphothreonine.
1648Phosphothreonine.
1672Phosphothreonine.
1673Phosphoserine.
1678Phosphoserine.
1701Phosphoserine.
1705Phosphoserine.
1709Phosphothreonine.
Location(AA) Modifications Resource
6Phosphoserine (ATM)Phospho.ELM 6.0
25Phosphoserine (ATM)Phospho.ELM 6.0
29Phosphoserine (ATM)Phospho.ELM 6.0
222PhosphoserinePhospho.ELM 6.0
265PhosphoserinePhospho.ELM 6.0
294PhosphoserinePhospho.ELM 6.0
294Phosphoserine.Swiss-Prot 53.0
316Phosphoserine.Swiss-Prot 53.0
316PhosphoserinePhospho.ELM 6.0
379PhosphoserinePhospho.ELM 6.0
380PhosphoserinePhospho.ELM 6.0
380Phosphoserine.Swiss-Prot 53.0
500PhosphoserinePhospho.ELM 6.0
500Phosphoserine.Swiss-Prot 53.0
523PhosphoserinePhospho.ELM 6.0
525PhosphoserinePhospho.ELM 6.0
525Phosphoserine.Swiss-Prot 53.0
548PhosphothreoninePhospho.ELM 6.0
552Phosphoserine.Swiss-Prot 53.0
552PhosphoserinePhospho.ELM 6.0
580Phosphoserine.Swiss-Prot 53.0
580PhosphoserinePhospho.ELM 6.0
635Phosphoserine.Swiss-Prot 53.0
635PhosphoserinePhospho.ELM 6.0
639PhosphoserinePhospho.ELM 6.0
639Phosphoserine.Swiss-Prot 53.0
640PhosphoserinePhospho.ELM 6.0
640Phosphoserine.Swiss-Prot 53.0
659PhosphoserinePhospho.ELM 6.0
659Phosphoserine.Swiss-Prot 53.0
660Phosphoserine.Swiss-Prot 53.0
660PhosphoserinePhospho.ELM 6.0
662PhosphoserinePhospho.ELM 6.0
662Phosphoserine.Swiss-Prot 53.0
750PhosphothreoninePhospho.ELM 6.0
750Phosphothreonine.Swiss-Prot 53.0
751PhosphoserinePhospho.ELM 6.0
751Phosphoserine.Swiss-Prot 53.0
754Phosphoserine.Swiss-Prot 53.0
754PhosphoserinePhospho.ELM 6.0
755Phosphoserine.Swiss-Prot 53.0
755PhosphoserinePhospho.ELM 6.0
771Phosphoserine.Swiss-Prot 53.0
782PhosphoserinePhospho.ELM 6.0
782Phosphoserine.Swiss-Prot 53.0
784Phosphoserine (ATM)Phospho.ELM 6.0
831Phosphoserine.Swiss-Prot 53.0
831PhosphoserinePhospho.ELM 6.0
899PhosphoserinePhospho.ELM 6.0
993Phosphoserine.Swiss-Prot 53.0
996Phosphothreonine.Swiss-Prot 53.0
999Phosphoserine.Swiss-Prot 53.0
1002Phosphoserine.Swiss-Prot 53.0
1028PhosphoserinePhospho.ELM 6.0
1028Phosphoserine.Swiss-Prot 53.0
1056PhosphothreoninePhospho.ELM 6.0
1056Phosphothreonine.Swiss-Prot 53.0
1068PhosphoserinePhospho.ELM 6.0
1094PhosphoserinePhospho.ELM 6.0
1094Phosphoserine.Swiss-Prot 53.0
1101PhosphoserinePhospho.ELM 6.0
1114Phosphoserine.Swiss-Prot 53.0
1114PhosphoserinePhospho.ELM 6.0
1214PhosphothreoninePhospho.ELM 6.0
1216PhosphoserinePhospho.ELM 6.0
1219PhosphoserinePhospho.ELM 6.0
1362PhosphoserinePhospho.ELM 6.0
1362Phosphoserine.Swiss-Prot 53.0
1426Phosphoserine.Swiss-Prot 53.0
1426PhosphoserinePhospho.ELM 6.0
1430Phosphoserine.Swiss-Prot 53.0
1430PhosphoserinePhospho.ELM 6.0
1460PhosphoserinePhospho.ELM 6.0
1462PhosphoserinePhospho.ELM 6.0
1634Phosphoserine.Swiss-Prot 53.0
1634PhosphoserinePhospho.ELM 6.0
1635Phosphoserine.Swiss-Prot 53.0
1635PhosphoserinePhospho.ELM 6.0
1638Phosphothreonine.Swiss-Prot 53.0
1638PhosphothreoninePhospho.ELM 6.0
1673PhosphoserinePhospho.ELM 6.0
1673Phosphoserine.Swiss-Prot 53.0
1678Phosphoserine.Swiss-Prot 53.0
1678PhosphoserinePhospho.ELM 6.0
1701Phosphoserine.Swiss-Prot 53.0
1701PhosphoserinePhospho.ELM 6.0
1705Phosphoserine.Swiss-Prot 53.0
1705PhosphoserinePhospho.ELM 6.0
1756PhosphothreoninePhospho.ELM 6.0
1758PhosphoserinePhospho.ELM 6.0
1759PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
6Phosphoserine(ATM)HMM predict
13Phosphoserine(ATM)HMM predict
25Phosphoserine(CK2)HMM predict
25Phosphoserine(ATM)HMM predict
29Phosphoserine(ATM)HMM predict
29Phosphoserine(IKK)HMM predict
96Phosphoserine(IKK)HMM predict
115N-linkedHMM predict
119Phosphoserine(IKK)HMM predict
151Phosphoserine(CK1)HMM predict
151Phosphoserine(IKK)HMM predict
153N-linkedHMM predict
176Phosphoserine(CK1)HMM predict
176Phosphoserine(ATM)HMM predict
178Phosphoserine(ATM)HMM predict
197Phosphoserine(IKK)HMM predict
204Phosphotyrosine(INSR)HMM predict
222Phosphoserine(CK1)HMM predict
222Phosphoserine(CK2)HMM predict
265Phosphoserine(CDC2)HMM predict
265Phosphoserine(ATM)HMM predict
294Phosphoserine(CDC2)HMM predict
311N-linkedHMM predict
321Phosphothreonine(CDC2)HMM predict
321Phosphothreonine(MAPK)HMM predict
333O-linkedHMM predict
354Phosphoserine(IKK)HMM predict
356Phosphoserine(CK1)HMM predict
380Phosphoserine(CDK)HMM predict
380Phosphoserine(IKK)HMM predict
398Phosphoserine(CK1)HMM predict
429O-linkedHMM predict
429Phosphoserine(CDC2)HMM predict
429Phosphoserine(MAPK)HMM predict
429Phosphoserine(IKK)HMM predict
433O-linkedHMM predict
433O-linkedHMM predict
434O-linkedHMM predict
434Phosphothreonine(MAPK)HMM predict
437Phosphoserine(ATM)HMM predict
440O-linkedHMM predict
447O-linkedHMM predict
452Phosphoserine(ATM)HMM predict
486Phosphothreonine(PKC)HMM predict
523Phosphoserine(ATM)HMM predict
532Phosphoserine(CK1)HMM predict
580Phosphoserine(ATM)HMM predict
630Phosphoserine(CDC2)HMM predict
635Phosphoserine(IKK)HMM predict
686Phosphoserine(ATM)HMM predict
751Phosphoserine(CK1)HMM predict
751Phosphoserine(CK2)HMM predict
751Phosphoserine(IKK)HMM predict
755Phosphoserine(CK1)HMM predict
784Phosphoserine(ATM)HMM predict
804Phosphothreonine(PKC)HMM predict
831Phosphoserine(ATM)HMM predict
831Phosphoserine(IKK)HMM predict
876Phosphoserine(CK2)HMM predict
894Phosphoserine(IKK)HMM predict
902Phosphothreonine(MAPK)HMM predict
938Phosphothreonine(PKA)HMM predict
949O-linkedHMM predict
957Phosphoserine(CK1)HMM predict
999Phosphoserine(CK2)HMM predict
1012Phosphothreonine(PKC)HMM predict
1025Phosphoserine(IKK)HMM predict
1028Phosphoserine(CDC2)HMM predict
1028Phosphoserine(CDK)HMM predict
1050O-linkedHMM predict
1056Phosphothreonine(CDC2)HMM predict
1056Phosphothreonine(MAPK)HMM predict
1068Phosphoserine(ATM)HMM predict
1086Phosphoserine(PKG)HMM predict
1086Phosphoserine(ATM)HMM predict
1101Phosphoserine(MAPK)HMM predict
1101Phosphoserine(IKK)HMM predict
1114Phosphoserine(CDC2)HMM predict
1114Phosphoserine(MAPK)HMM predict
1138N-linkedHMM predict
1216Phosphoserine(CK1)HMM predict
1219Phosphoserine(CK1)HMM predict
1219Phosphoserine(ATM)HMM predict
1270Phosphothreonine(PKA)HMM predict
1288Phosphoserine(IKK)HMM predict
1290O-linkedHMM predict
1290Phosphoserine(CK1)HMM predict
1290Phosphoserine(ATM)HMM predict
1290Phosphoserine(IKK)HMM predict
1292Phosphothreonine(PKC)HMM predict
1307Phosphoserine(IKK)HMM predict
1311Phosphoserine(CK1)HMM predict
1315PhosphothreonineHMM predict
1316O-linkedHMM predict
1317Phosphoserine(CK1)HMM predict
1320O-linkedHMM predict
1320Phosphoserine(IKK)HMM predict
1327O-linkedHMM predict
1327Phosphoserine(ATM)HMM predict
1342Phosphoserine(PKG)HMM predict
1355MethylarginineHMM predict
1362Phosphoserine(CDC2)HMM predict
1362PhosphoserineHMM predict
1368Phosphoserine(IKK)HMM predict
1394Phosphothreonine(MAPK)HMM predict
1394Phosphothreonine(CDK)HMM predict
1396MethylarginineHMM predict
1430Phosphoserine(CDC2)HMM predict
1430Phosphoserine(ATM)HMM predict
1450Phosphothreonine(PKA)HMM predict
1460Phosphoserine(PKA)HMM predict
1462Phosphoserine(CDC2)HMM predict
1462Phosphoserine(ATM)HMM predict
1462Phosphoserine(IKK)HMM predict
1552Phosphotyrosine(INSR)HMM predict
1552Phosphotyrosine(SRC)HMM predict
1565Phosphoserine(PKG)HMM predict
1569Phosphotyrosine(INSR)HMM predict
1609Phosphothreonine(MAPK)HMM predict
1631Phosphoserine(IKK)HMM predict
1632N-linkedHMM predict
1634O-linkedHMM predict
1635O-linkedHMM predict
1635Phosphoserine(CDC2)HMM predict
1638O-linkedHMM predict
1638Phosphothreonine(MAPK)HMM predict
1640O-linkedHMM predict
1640Phosphothreonine(MAPK)HMM predict
1642O-linkedHMM predict
1643O-linkedHMM predict
1644O-linkedHMM predict
1645O-linkedHMM predict
1645Phosphoserine(CK1)HMM predict
1646O-linkedHMM predict
1646O-linkedHMM predict
1647O-linkedHMM predict
1648O-linkedHMM predict
1648Phosphothreonine(CDC2)HMM predict
1648Phosphothreonine(MAPK)HMM predict
1648Phosphothreonine(CDK)HMM predict
1648PhosphothreonineHMM predict
1650O-linkedHMM predict
1656Phosphoserine(CDC2)HMM predict
1672Phosphothreonine(CK2)HMM predict
1678Phosphoserine(CDC2)HMM predict
1678PhosphoserineHMM predict
1686Phosphoserine(PKG)HMM predict
1688Phosphothreonine(PKC)HMM predict
1701Phosphoserine(IKK)HMM predict
1725N-linkedHMM predict
1737O-linkedHMM predict
1758PhosphoserineHMM predict
1759PhosphoserineHMM predict
1786Phosphotyrosine(INSR)HMM predict
1966LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005657
  • Location:chr15 41486698-41590027
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41590766 41591125 359 918
hScc1 BcellGSE12603 41590192 41590572 380 355
p130 SenescentGSE19898 41589704 41590591 887 120
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 41520184 41521105 921 0
CTCF CD4GSE12889 41562905 41563077 172 0
CTCF CD4SISSRdata 41562905 41563077 172 0
CTCF HelaGSE12889 41565935 41566126 191 0
CTCF JurkatGSE12889 41562933 41563114 181 0
CTCF G2GSE9613 41572332 41572699 367 0
Fos K562GSE19551 41520181 41520821 640 0
Fos K562GSE19551 41572225 41573497 1272 0
Myc K562GSE19551 41520400 41520721 321 0
NRSF JurkatGSE13047 41568319 41568749 430 0
NRSF mAbJurkat 41568475 41568897 422 0
NRSF mAbJurkat 41571042 41572256 1214 0
NRSF-mono JurkatQuESTdata 41568238 41568613 375 0
Nanog hESGSE18292 41557816 41558027 211 0
Oct1 HelaGSE14283 41541592 41541627 35 0
Oct1 HelaGSE14283 41571003 41571034 31 0
P300 T0-glioblastomaGSE21026 41520058 41521156 1098 0
P300 T30-glioblastomaGSE21026 41520212 41521170 958 0
P300 T30-glioblastomaGSE21026 41571811 41573374 1563 0
PHF8 HeLaGSE20725 41572020 41573076 1056 0
Rb GrowingGSE19898 41573322 41573524 202 0
TFAP2C MCF7GSE21234 41520281 41520805 524 0
hScc1 BcellGSE12603 41520412 41520629 217 0
hScc1 BcellGSE12603 41572352 41572843 491 0
hScc1 CdLSGSE12603 41520412 41520593 181 0
p130 shRbQuiescentGSE19898 41572368 41573235 867 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