AutismKB 2.0

Annotation Detail for AP1B1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AP1B1 ( ADTB1,AP105A,BAM22,CLAPB2 )
Gene Full Name: adaptor-related protein complex 1, beta 1 subunit
Band: 22q12.2
Quick LinksEntrez ID:162; OMIM: 600157; Uniprot ID:AP1B1_HUMAN; ENSEMBL ID: ENSG00000100280; HGNC ID: 554
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
318N6-acetyllysine.
897Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
8Phosphothreonine(PKC)HMM predict
79Phosphoserine(ATM)HMM predict
245Phosphothreonine(PKA)HMM predict
277SulfotyrosineHMM predict
300Phosphotyrosine(Jak)HMM predict
300Phosphotyrosine(SRC)HMM predict
333Phosphotyrosine(EGFR)HMM predict
333Phosphotyrosine(Jak)HMM predict
333Phosphotyrosine(INSR)HMM predict
347Phosphoserine(CAMK2)HMM predict
361Phosphotyrosine(INSR)HMM predict
599Phosphoserine(CK2)HMM predict
600Phosphoserine(CK2)HMM predict
602Phosphoserine(IKK)HMM predict
642O-linkedHMM predict
649O-linkedHMM predict
786Phosphoserine(ATM)HMM predict
788N-linkedHMM predict
875Phosphoserine(CK1)HMM predict
918N-linkedHMM predict
940Phosphotyrosine(Syk)HMM predict
940Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001127
  • Location:chr22 28053670-28114568
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28121010 28121314 304 6594
CTCF CD4SISSRdata 28121010 28121314 304 6594
CTCF HelaGSE12889 28120914 28121408 494 6593
CTCF G2GSE9613 28121040 28121421 381 6662
H3ac HepG2E 28117768 28118027 259 3329
P300 T30-glioblastomaGSE21026 28131973 28132330 357 17583
Pol2 GM12878GSE19551 28114255 28114958 703 38
Rb QuiescentGSE19898 28114517 28114682 165 31
hScc1 BcellGSE12603 28121040 28121654 614 6779
hScc1 CdLSGSE12603 28121040 28121654 614 6779
hScc1 G2GSE9613 28121040 28121454 414 6679
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28085397 28085894 497 0
ER MCF7GSE19013 28111293 28112853 1560 0
FOXA1 MCF7GSE15244 28060846 28061517 671 0
FOXA1 MCF7GSE15244 28068398 28069250 852 0
FOXA1 MCF7GSE15244 28103963 28104220 257 0
FOXA1 MCF7GSE15244 28111394 28112084 690 0
FoxA1 MCF7MACSdata 28060991 28061350 359 0
FoxA1 MCF7MACSdata 28068587 28068862 275 0
GABP k562GSE8489 28111816 28113269 1453 0
H3K4me3 colorectalcancer 28113101 28113269 168 0
H3K4me3 colorectalcancer 28113881 28114082 201 0
H3ac HepG2E 28111848 28113269 1421 0
H3ac HepG2E 28113881 28114304 423 0
PHF8 293TGSE20725 28113786 28114906 1120 0
PHF8 HeLaGSE20725 28114028 28115107 1079 0
RARA MCF7GSE15244 28103231 28103446 215 0
RARA MCF7GSE15244 28103963 28104220 257 0
RARA MCF7GSE15244 28111394 28112084 690 0
RARA MCF7GSE15244 28112945 28113269 324 0
RARG MCF7GSE15244 28062938 28063409 471 0
RARG MCF7GSE15244 28103963 28104220 257 0
RARG MCF7GSE15244 28111394 28112084 690 0
Rb GrowingGSE19898 28085727 28085864 137 0
TFAP2C MCF7GSE21234 28070071 28070678 607 0
TFAP2C MCF7GSE21234 28106003 28106900 897 0
TFAP2C MCF7GSE21234 28111212 28112022 810 0
hScc1 BcellGSE12603 28054188 28054538 350 0
hScc1 BcellGSE12603 28056474 28057326 852 0
hScc1 BcellGSE12603 28066771 28067135 364 0
hScc1 BcellGSE12603 28114234 28114739 505 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved