AutismKB 2.0

Annotation Detail for BAP1


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Basic Information Top
Gene Symbol:BAP1 ( DKFZp686N04275,FLJ35406,FLJ37180,HUCEP-13,KIAA0272,UCHL2 )
Gene Full Name: BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
Band: 3p21.1
Quick LinksEntrez ID:8314; OMIM: 603089; Uniprot ID:BAP1_HUMAN; ENSEMBL ID: ENSG00000163930; HGNC ID: 950
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
327Phosphoserine.
366HBM-like motif.
395Phosphoserine.
487Phosphothreonine.
489Phosphoserine.
582Phosphoserine.
583Phosphoserine.
592Phosphoserine.
597Phosphoserine.
722Nuclear localization signal.
Location(AA) Modifications Resource
384PhosphoserinePhospho.ELM 6.0
487Phosphothreonine.Swiss-Prot 53.0
487PhosphothreoninePhospho.ELM 6.0
489Phosphoserine.Swiss-Prot 53.0
489PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
63Phosphoserine(PKG)HMM predict
64Phosphothreonine(PKG)HMM predict
102N-linkedHMM predict
129Phosphotyrosine(INSR)HMM predict
276PhosphoserineHMM predict
279Phosphoserine(ATM)HMM predict
285Phosphoserine(CK1)HMM predict
289Phosphoserine(IKK)HMM predict
308N-linkedHMM predict
325O-linkedHMM predict
349N-linkedHMM predict
366Phosphotyrosine(Syk)HMM predict
394Phosphotyrosine(Syk)HMM predict
394Phosphotyrosine(SRC)HMM predict
395Phosphoserine(CK2)HMM predict
395Phosphoserine(CK2)HMM predict
395PhosphoserineHMM predict
401Phosphotyrosine(INSR)HMM predict
401Phosphotyrosine(EGFR)HMM predict
401Phosphotyrosine(Syk)HMM predict
401SulfotyrosineHMM predict
412O-linkedHMM predict
455Phosphoserine(ATM)HMM predict
468O-linkedHMM predict
473Phosphoserine(CDC2)HMM predict
482O-linkedHMM predict
482Phosphoserine(ATM)HMM predict
482O-linkedHMM predict
485O-linkedHMM predict
487O-linkedHMM predict
487O-linkedHMM predict
487Phosphothreonine(MAPK)HMM predict
489O-linkedHMM predict
493O-linkedHMM predict
495Phosphothreonine(CK2)HMM predict
505Phosphoserine(CDC2)HMM predict
509Phosphoserine(CDC2)HMM predict
509Phosphoserine(CDK)HMM predict
509PhosphoserineHMM predict
515N-linkedHMM predict
521O-linkedHMM predict
521Phosphoserine(IKK)HMM predict
521Phosphoserine(CDC2)HMM predict
571Phosphoserine(MAPK)HMM predict
583Phosphoserine(CDC2)HMM predict
585O-linkedHMM predict
595O-linkedHMM predict
597Phosphoserine(CDK)HMM predict
597Phosphoserine(CDC2)HMM predict
597Phosphoserine(ATM)HMM predict
627Phosphotyrosine(INSR)HMM predict
671SulfotyrosineHMM predict
721Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004656
  • Location:chr3 52410066-52419048
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68plusFBSGSE20725 52418238 52420314 2076 228
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 52414344 52416411 2067 0
CTCF G2GSE9613 52410989 52411803 814 0
CTCF G2GSE9613 52412381 52412715 334 0
CTCF G2GSE9613 52413634 52413835 201 0
CTCF G2GSE9613 52415324 52416293 969 0
CTCF G2GSE9613 52418654 52419172 518 0
ETS1 JurkatGSE17954 52418394 52419470 1076 0
H3K4me2 HCT116GSE10453 52417932 52418476 544 0
H3K4me3 colorectalcancer 52417968 52418439 471 0
H3ac HepG2E 52416931 52418792 1861 0
hScc1 BcellGSE12603 52411239 52411803 564 0
hScc1 CdLSGSE12603 52418883 52419172 289 0
p130 shRbSenescentGSE19898 52418639 52418808 169 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-125a-3p hsa-mir-125a 19 19950226
hsa-miR-125a-5p hsa-mir-125a 19 19950226
hsa-miR-140-3p hsa-mir-140 16 19950226
hsa-miR-140-5p hsa-mir-140 16 19950226
hsa-miR-149 hsa-mir-149 2 19950226
hsa-miR-149* hsa-mir-149 2 19950226
hsa-miR-27a hsa-mir-27a 19 19950226
hsa-miR-27a* hsa-mir-27a 19 19950226
hsa-miR-423-3p hsa-mir-423 17 19950226
hsa-miR-423-5p hsa-mir-423 17 19950226
hsa-miR-92a hsa-mir-92a-1 13 19950226
hsa-miR-92a-1* hsa-mir-92a-1 13 19950226
No data
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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