AutismKB 2.0

Annotation Detail for BUB1


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Basic Information Top
Gene Symbol:BUB1 ( BUB1A,BUB1L,hBUB1 )
Gene Full Name: budding uninhibited by benzimidazoles 1 homolog (yeast)
Band: 2q13
Quick LinksEntrez ID:699; OMIM: 602452; Uniprot ID:BUB1_HUMAN; ENSEMBL ID: ENSG00000169679; HGNC ID: 1148
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
65Nuclear localization signal (Potential).
159Phosphoserine.
314Phosphoserine.
331Phosphoserine.
375Phosphoserine.
452Phosphothreonine.
461Phosphothreonine.
537KEN box 1.
563Phosphoserine.
593Phosphoserine.
596Phosphoserine.
609Phosphothreonine; by CDK1.
627KEN box 2.
655Phosphoserine.
661Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
96Phosphothreonine(PKC)HMM predict
219Phosphotyrosine(INSR)HMM predict
220Phosphoserine(CK2)HMM predict
220Phosphoserine(CK1)HMM predict
250Phosphoserine(CK1)HMM predict
314Phosphoserine(ATM)HMM predict
375Phosphoserine(IKK)HMM predict
375O-linkedHMM predict
379O-linkedHMM predict
379Phosphoserine(ATM)HMM predict
381Phosphoserine(IKK)HMM predict
409N-linkedHMM predict
434N-linkedHMM predict
440O-linkedHMM predict
445O-linkedHMM predict
459O-linkedHMM predict
538Phosphotyrosine(INSR)HMM predict
563Phosphoserine(PKA)HMM predict
563PhosphoserineHMM predict
587N-linkedHMM predict
593Phosphoserine(ATM)HMM predict
593Phosphoserine(CDK)HMM predict
593Phosphoserine(CDC2)HMM predict
609Phosphothreonine(CDK)HMM predict
679Phosphoserine(ATM)HMM predict
730Phosphothreonine(PKC)HMM predict
1071AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004336
  • Location:chr2 111111882-111152134
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 111151201 111153405 2204 169
CTCF G2GSE9613 111151728 111152873 1145 166
CTCF G2GSE9613 111169698 111170039 341 17734
Fos K562GSE19551 111151818 111152527 709 38
H3K4me3 colorectalcancer 111152232 111153124 892 544
H3ac HepG2E 111152337 111153203 866 636
LIN54 G0GSE7516 111151865 111152447 582 22
LIN9 SGSE7516 111151275 111153124 1849 65
Oct4 hESGSE17917 111162910 111163172 262 10907
Oct4 hESGSE21916 111161619 111162230 611 9790
Oct4 hESGSE21916 111162558 111163380 822 10835
P300 T30-glioblastomaGSE21026 111151749 111152865 1116 173
PHF8 HeLaGSE20725 111151472 111152804 1332 4
PolII HeLaGSE12783 111151444 111153223 1779 199
TAF k562GSE8489 111152271 111153203 932 603
p130 shRbQuiescentGSE19898 111151810 111152827 1017 184
p130 shRbSenescentGSE19898 111151604 111152779 1175 57
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 111093472 111093523 51 18385
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 111148799 111149097 298 0
E2F4 G0GSE7516 111151479 111152562 1083 0
E2F4 SGSE7516 111151652 111152447 795 0
H3ac HepG2E 111150860 111151620 760 0
LIN9 G0GSE7516 111151311 111152909 1598 0
PHF8 293TGSE20725 111151731 111152498 767 0
TAF k562GSE8489 111150860 111151479 619 0
hScc1 BcellGSE12603 111148754 111149062 308 0
p130 QuiescentGSE19898 111151677 111152441 764 0
p130 SenescentGSE19898 111151411 111152450 1039 0
p130 G0GSE7516 111151346 111152489 1143 0
p130 SGSE7516 111151311 111152589 1278 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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