AutismKB 2.0

Annotation Detail for AP2B1


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Basic Information Top
Gene Symbol:AP2B1 ( ADTB2,AP105B,AP2-BETA,CLAPB1,DKFZp781K0743 )
Gene Full Name: adaptor-related protein complex 2, beta 1 subunit
Band: 17q12
Quick LinksEntrez ID:163; OMIM: 601025; Uniprot ID:AP2B1_HUMAN; ENSEMBL ID: ENSG00000006125; HGNC ID: 563
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2Phosphothreonine.
4Phosphoserine.
265N6-acetyllysine.
276Phosphotyrosine.
318N6-acetyllysine.
737Phosphotyrosine; by SRC.
888Phosphotyrosine.
Location(AA) Modifications Resource
6PhosphotyrosinePhospho.ELM 6.0
737Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
8Phosphothreonine(PKC)HMM predict
79Phosphoserine(ATM)HMM predict
188Phosphoserine(CK1)HMM predict
245Phosphothreonine(PKA)HMM predict
276Phosphotyrosine(Jak)HMM predict
276Phosphotyrosine(Syk)HMM predict
276Phosphotyrosine(INSR)HMM predict
277Phosphotyrosine(Syk)HMM predict
277SulfotyrosineHMM predict
300Phosphotyrosine(SRC)HMM predict
333Phosphotyrosine(INSR)HMM predict
333Phosphotyrosine(Jak)HMM predict
333Phosphotyrosine(EGFR)HMM predict
347Phosphoserine(CAMK2)HMM predict
361Phosphotyrosine(INSR)HMM predict
425Phosphotyrosine(INSR)HMM predict
605O-linkedHMM predict
609O-linkedHMM predict
610O-linkedHMM predict
613O-linkedHMM predict
623Phosphoserine(ATM)HMM predict
676O-linkedHMM predict
676O-linkedHMM predict
680Phosphoserine(CDC2)HMM predict
680O-linkedHMM predict
682O-linkedHMM predict
682O-linkedHMM predict
737Phosphotyrosine(INSR)HMM predict
741N-linkedHMM predict
744N-linkedHMM predict
911N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001030006
  • Location:chr17 30938394-31077545
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAF HelaGSE8489 30938072 30938471 399 123
TAF k562GSE8489 30936548 30936918 370 1662
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 31077676 31078217 541 401
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 30937816 30939385 1569 0
CTCF G2GSE9613 30947807 30948055 248 0
ER E2-MCF7GSE14664 30956626 30956673 47 0
ER E2-MCF7GSE14664 30971958 30971990 32 0
ER E2-MCF7GSE14664 31066271 31066306 35 0
ER Fulvestrant-MCF7GSE14664 31033163 31033236 73 0
ETS1 JurkatGSE17954 30937898 30939085 1187 0
H3K4me3 colorectalcancer 30938577 30939175 598 0
H3ac HepG2E 30938072 30939757 1685 0
H3ac HepG2E 30940286 30940975 689 0
Nanog ESGSE20650 31035404 31035976 572 0
Nanog hESGSE18292 31035511 31035917 406 0
Nanog hESGSE18292 31062014 31062475 461 0
Oct1 H2O2-HelaGSE14283 30951002 30951031 29 0
Oct1 H2O2-HelaGSE14283 30997069 30997098 29 0
Oct1 H2O2-HelaGSE14283 31072598 31072629 31 0
Oct1 HelaGSE14283 30940045 30940088 43 0
Oct1 HelaGSE14283 30956632 30956672 40 0
Oct1 HelaGSE14283 30961922 30961953 31 0
Oct1 HelaGSE14283 30968721 30968756 35 0
Oct1 HelaGSE14283 31022164 31022195 31 0
Oct1 HelaGSE14283 31033159 31033233 74 0
Oct1 HelaGSE14283 31040243 31040269 26 0
P300 T0-glioblastomaGSE21026 30937812 30939083 1271 0
P300 T30-glioblastomaGSE21026 30937735 30939289 1554 0
PHF8 293TGSE20725 30938119 30939105 986 0
PHF8 Hs68minusFBSGSE20725 30937903 30939167 1264 0
RNAII Tamoxifen-MCF7GSE14664 30940048 30940085 37 0
RNAII Tamoxifen-MCF7GSE14664 30968718 30968752 34 0
RNAII Tamoxifen-MCF7GSE14664 30970937 30971035 98 0
Sox2 hESGSE18292 31062160 31062400 240 0
TAF k562GSE8489 30937492 30940975 3483 0
TAF k562GSE8489 30985766 30986164 398 0
TAFII hESGSE17917 31005945 31006231 286 0
TFAP2C MCF7GSE21234 30939574 30939963 389 0
TFAP2C MCF7GSE21234 30940706 30940997 291 0
hScc1 BcellGSE12603 30947771 30948019 248 0
hScc1 BcellGSE12603 30964178 30964385 207 0
hScc1 CdLSGSE12603 30964178 30964605 427 0
p130 QuiescentGSE19898 30938163 30939004 841 0
p130 shRbQuiescentGSE19898 30938095 30938930 835 0
p63 keratinocytesGSE17611 31060802 31061735 933 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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