AutismKB 2.0

Annotation Detail for TOPBP1


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Basic Information Top
Gene Symbol:TOPBP1 ( TOP2BP1 )
Gene Full Name: topoisomerase (DNA) II binding protein 1
Band: 3q22.1
Quick LinksEntrez ID:11073; OMIM: 607760; Uniprot ID:TOPB1_HUMAN; ENSEMBL ID: ENSG00000163781; HGNC ID: 17008
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
298Phosphothreonine.
301Phosphoserine.
492Phosphoserine.
581N6-acetyllysine.
779Phosphothreonine.
805Phosphoserine.
848Phosphothreonine.
858Nuclear localization signal (Potential).
860Phosphoserine.
861Phosphothreonine.
864Phosphoserine.
888Phosphoserine.
1002Phosphoserine.
1062Phosphothreonine.
1138Phosphoserine.
1520Nuclear localization signal (Potential).
Location(AA) Modifications Resource
805Phosphoserine.Swiss-Prot 53.0
888Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
43Phosphothreonine(CK2)HMM predict
102Phosphotyrosine(Abl)HMM predict
102Phosphotyrosine(Syk)HMM predict
127Phosphotyrosine(Abl)HMM predict
136Phosphotyrosine(EGFR)HMM predict
140N-linkedHMM predict
187Phosphotyrosine(Jak)HMM predict
222Phosphothreonine(PKC)HMM predict
282Phosphotyrosine(Syk)HMM predict
282Phosphotyrosine(EGFR)HMM predict
295N-linkedHMM predict
296O-linkedHMM predict
297O-linkedHMM predict
298Phosphothreonine(CDK)HMM predict
298Phosphothreonine(MAPK)HMM predict
321N-linkedHMM predict
323O-linkedHMM predict
413N-linkedHMM predict
492Phosphoserine(ATM)HMM predict
492Phosphoserine(CK1)HMM predict
496N-linkedHMM predict
513N-linkedHMM predict
522N-linkedHMM predict
533N-linkedHMM predict
535Phosphoserine(CK1)HMM predict
548Phosphothreonine(CK2)HMM predict
554Phosphoserine(ATM)HMM predict
567N-linkedHMM predict
570N-linkedHMM predict
573N-linkedHMM predict
635PhosphothreonineHMM predict
740N-linkedHMM predict
741Phosphoserine(CK2)HMM predict
747Phosphoserine(CK1)HMM predict
772Phosphothreonine(PKC)HMM predict
776Phosphothreonine(PKA)HMM predict
805Phosphoserine(CDC2)HMM predict
848Phosphothreonine(MAPK)HMM predict
848Phosphothreonine(CDK)HMM predict
860Phosphoserine(PKA)HMM predict
861Phosphothreonine(CDK)HMM predict
861Phosphothreonine(MAPK)HMM predict
877N-linkedHMM predict
881N-linkedHMM predict
886Phosphoserine(PKG)HMM predict
896Phosphoserine(CK2)HMM predict
917Phosphoserine(CK1)HMM predict
952N-linkedHMM predict
955N-linkedHMM predict
1050N-linkedHMM predict
1055N-linkedHMM predict
1097Phosphoserine(IKK)HMM predict
1101Phosphoserine(IKK)HMM predict
1103O-linkedHMM predict
1104Phosphoserine(CK1)HMM predict
1104O-linkedHMM predict
1105Phosphothreonine(MAPK)HMM predict
1105Phosphothreonine(CDC2)HMM predict
1105Phosphothreonine(CDK)HMM predict
1108O-linkedHMM predict
1129Phosphothreonine(PKC)HMM predict
1236O-linkedHMM predict
1349SulfotyrosineHMM predict
1511Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007027
  • Location:chr3 134802176-134863379
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 134865259 134865555 296 2028
CTCF CD4SISSRdata 134865259 134865555 296 2028
CTCF G2GSE9613 134863104 134864160 1056 253
CTCF G2GSE9613 134865245 134865522 277 2004
CTCF G2GSE9613 134875931 134876352 421 12762
ETS1 JurkatGSE17954 134862937 134864249 1312 214
PHF8 HeLaGSE20725 134862676 134864126 1450 22
PolII HeLaGSE12783 134862631 134864318 1687 95
RARA MCF7GSE15244 134865245 134865522 277 2004
RARA MCF7GSE15244 134877461 134877936 475 14319
RARG MCF7GSE15244 134877461 134878005 544 14354
Rb GrowingGSE19898 134863418 134863557 139 108
Rb SenescentGSE19898 134863361 134863649 288 126
hScc1 BcellGSE12603 134865245 134865522 277 2004
hScc1 CdLSGSE12603 134865245 134865522 277 2004
p130 QuiescentGSE19898 134863004 134863793 789 19
p130 SenescentGSE19898 134863385 134863806 421 216
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARG MCF7GSE15244 134796782 134797205 423 5183
TFAP2C MCF7GSE21234 134796968 134797363 395 5011
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 134814978 134815293 315 0
FoxA1 MCF7MACSdata 134846454 134846578 124 0
H3K4me3 colorectalcancer 134862341 134863068 727 0
H3ac HepG2E 134861376 134861754 378 0
H3ac HepG2E 134862304 134863186 882 0
P300 T30-glioblastomaGSE21026 134846275 134846784 509 0
RARA MCF7GSE15244 134845244 134845841 597 0
RARA MCF7GSE15244 134846658 134846901 243 0
RARG MCF7GSE15244 134845318 134845841 523 0
TFAP2C MCF7GSE21234 134846181 134846714 533 0
TFAP2C MCF7GSE21234 134847225 134847508 283 0
p130 shRbSenescentGSE19898 134862786 134863677 891 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
18702 EST chr3 134859353 134860024 130 mRNA TOPBP1 chr3 134802184 134863388Sense/Antisense (SA) pairs

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