AutismKB 2.0

Annotation Detail for BBX


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Basic Information Top
Gene Symbol:BBX ( HBP2,HSPC339,MDS001 )
Gene Full Name: bobby sox homolog (Drosophila)
Band: 3q13.12
Quick LinksEntrez ID:56987; OMIM: NA; Uniprot ID:BBX_HUMAN; ENSEMBL ID: ENSG00000114439; HGNC ID: 14422
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
159Phosphoserine.
161Phosphothreonine.
479Phosphoserine.
485Phosphoserine.
568Phosphothreonine.
809Phosphothreonine.
822Phosphoserine.
844Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
40Phosphoserine(CK2)HMM predict
129Phosphotyrosine(INSR)HMM predict
129Phosphotyrosine(Syk)HMM predict
159Phosphoserine(CDC2)HMM predict
161Phosphothreonine(MAPK)HMM predict
161O-linkedHMM predict
183Phosphoserine(CDK)HMM predict
183Phosphoserine(CDC2)HMM predict
252O-linkedHMM predict
253Phosphoserine(CK1)HMM predict
258Phosphoserine(IKK)HMM predict
278Phosphoserine(CK1)HMM predict
279N-linkedHMM predict
281Phosphoserine(CK1)HMM predict
468Phosphothreonine(CDC2)HMM predict
478Phosphoserine(CK2)HMM predict
479Phosphoserine(CK2)HMM predict
481Phosphoserine(CK1)HMM predict
481Phosphoserine(CK2)HMM predict
506Phosphothreonine(CDC2)HMM predict
506Phosphothreonine(MAPK)HMM predict
514Phosphoserine(CK2)HMM predict
539Phosphoserine(CK1)HMM predict
563N-linkedHMM predict
568Phosphothreonine(CDC2)HMM predict
578Phosphothreonine(MAPK)HMM predict
587Phosphoserine(IKK)HMM predict
642Phosphoserine(PKG)HMM predict
647N-linkedHMM predict
703Phosphotyrosine(SRC)HMM predict
724N-linkedHMM predict
727O-linkedHMM predict
739Phosphoserine(CDK)HMM predict
809Phosphothreonine(MAPK)HMM predict
809O-linkedHMM predict
809Phosphothreonine(CDC2)HMM predict
813O-linkedHMM predict
815O-linkedHMM predict
844Phosphoserine(CDC2)HMM predict
886Phosphoserine(IKK)HMM predict
887Phosphothreonine(CDK)HMM predict
932AlanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020235
  • Location:chr3 108724479-109007386
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 108723959 108724796 837 102
Oct1 HelaGSE14283 108707362 108707399 37 17099
TAF HelaGSE8489 108722982 108723205 223 1386
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 109025731 109026731 1000 18845
FOXA1 MCF7GSE15244 109025956 109027231 1275 19207
FoxA1 MCF7MACSdata 109026152 109026355 203 18867
Nanog hESGSE18292 109018040 109018251 211 10759
Oct1 H2O2-HelaGSE14283 109019688 109019718 30 12317
Oct1 HelaGSE14283 109018912 109018956 44 11548
Oct1 HelaGSE14283 109019689 109019721 32 12319
Oct1 HelaGSE14283 109020387 109020434 47 13024
Sox2 hESGSE18292 109018096 109018250 154 10787
TFAP2C MCF7GSE21234 109026929 109027701 772 19929
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 108878274 108878533 259 0
CTCF CD4GSE12889 108892068 108892397 329 0
CTCF CD4SISSRdata 108878274 108878533 259 0
CTCF CD4SISSRdata 108892068 108892397 329 0
CTCF G2GSE9613 108724412 108725371 959 0
CTCF G2GSE9613 108776269 108776495 226 0
CTCF G2GSE9613 108845025 108845247 222 0
CTCF G2GSE9613 108878342 108878931 589 0
CTCF G2GSE9613 108881062 108881278 216 0
CTCF G2GSE9613 108954147 108954868 721 0
CTCF G2GSE9613 108989865 108990006 141 0
CTCF G2GSE9613 108996276 108996415 139 0
ER E2-MCF7GSE14664 108774140 108774175 35 0
ER E2-MCF7GSE14664 108886863 108886949 86 0
FOXA1 MCF7GSE15244 108953853 108954868 1015 0
H3K4me3 colorectalcancer 108725371 108726193 822 0
H3ac HepG2E 108725371 108726096 725 0
NRSF mAbJurkat 108817194 108817516 322 0
Nanog hESGSE18292 108892022 108892472 450 0
Nanog hESGSE18292 109004734 109005047 313 0
Oct1 H2O2-HelaGSE14283 108774142 108774169 27 0
Oct1 H2O2-HelaGSE14283 108814555 108814582 27 0
Oct1 H2O2-HelaGSE14283 108848743 108848779 36 0
Oct1 H2O2-HelaGSE14283 108884757 108884791 34 0
Oct1 H2O2-HelaGSE14283 108887283 108887312 29 0
Oct1 H2O2-HelaGSE14283 108898043 108898080 37 0
Oct1 H2O2-HelaGSE14283 108901370 108901399 29 0
Oct1 H2O2-HelaGSE14283 108985907 108985940 33 0
Oct1 HelaGSE14283 108774136 108774174 38 0
Oct1 HelaGSE14283 108777418 108777448 30 0
Oct1 HelaGSE14283 108785621 108785655 34 0
Oct1 HelaGSE14283 108797434 108797473 39 0
Oct1 HelaGSE14283 108848744 108848780 36 0
Oct1 HelaGSE14283 108873436 108873504 68 0
Oct1 HelaGSE14283 108884757 108884791 34 0
Oct1 HelaGSE14283 108898047 108898080 33 0
Oct1 HelaGSE14283 108931014 108931044 30 0
Oct1 HelaGSE14283 108939085 108939131 46 0
Oct1 HelaGSE14283 108985907 108985937 30 0
Oct4 hESGSE17917 108970456 108970734 278 0
RARG MCF7GSE15244 109002676 109003047 371 0
RNAII Tamoxifen-MCF7GSE14664 108937074 108937167 93 0
SRF HelaGSE8489 108817194 108817516 322 0
TFAP2C MCF7GSE21234 108726156 108726524 368 0
TFAP2C MCF7GSE21234 108814031 108814580 549 0
USF2 HepG2E 108892180 108892397 217 0
hScc1 BcellGSE12603 108724446 108725166 720 0
hScc1 CdLSGSE12603 108724511 108725016 505 0
hScc1 CdLSGSE12603 108776029 108776605 576 0
hScc1 CdLSGSE12603 108892251 108892397 146 0
hScc1 CdLSGSE12603 108953959 108954541 582 0
p63 keratinocytesGSE17611 108890696 108891519 823 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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