AutismKB 2.0

Annotation Detail for AP4E1


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Basic Information Top
Gene Symbol:AP4E1 ( DKFZp686L12167 )
Gene Full Name: adaptor-related protein complex 4, epsilon 1 subunit
Band: 15q21.2
Quick LinksEntrez ID:23431; OMIM: 607244; Uniprot ID:AP4E1_HUMAN; ENSEMBL ID: ENSG00000081014; HGNC ID: 573
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
850Phosphoserine.
857Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
66O-linkedHMM predict
68O-linkedHMM predict
68Phosphoserine(IKK)HMM predict
68O-linkedHMM predict
229Phosphotyrosine(INSR)HMM predict
236N-linkedHMM predict
240Phosphotyrosine(Syk)HMM predict
265Phosphotyrosine(EGFR)HMM predict
311N-linkedHMM predict
347Phosphoserine(CDC2)HMM predict
393Phosphothreonine(PKA)HMM predict
405N-linkedHMM predict
424Phosphotyrosine(Jak)HMM predict
543N-linkedHMM predict
547Phosphoserine(CK2)HMM predict
548Phosphoserine(CK1)HMM predict
570Phosphothreonine(PKC)HMM predict
634Phosphoserine(ATM)HMM predict
652Phosphoserine(CK1)HMM predict
715Phosphotyrosine(Jak)HMM predict
723Phosphothreonine(CK2)HMM predict
751Phosphoserine(IKK)HMM predict
788Phosphothreonine(PKC)HMM predict
797Phosphoserine(PKG)HMM predict
812N-linkedHMM predict
817Phosphoserine(IKK)HMM predict
819O-linkedHMM predict
820O-linkedHMM predict
826Phosphotyrosine(Syk)HMM predict
830Phosphotyrosine(Syk)HMM predict
830PhosphotyrosineHMM predict
831Phosphotyrosine(Syk)HMM predict
831SulfotyrosineHMM predict
857Phosphoserine(CK1)HMM predict
891O-linkedHMM predict
901Phosphoserine(IKK)HMM predict
901Phosphoserine(CK1)HMM predict
905Phosphoserine(CK2)HMM predict
913Phosphotyrosine(Jak)HMM predict
924N-linkedHMM predict
948N-linkedHMM predict
1002N-linkedHMM predict
1061Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007347
  • Location:chr15 48988237-49085388
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 48987978 48988224 246 137
CTCF CD4SISSRdata 48987978 48988224 246 137
CTCF G2GSE9613 48987870 48988468 598 69
ETS1 JurkatGSE17954 48987617 48988722 1105 68
P300 T30-glioblastomaGSE21026 48987501 48988680 1179 147
PHF8 HeLaGSE20725 48986905 48988891 1986 340
Rb SenescentGSE19898 48987513 48988212 699 375
Rb shRbSenescenceGSE19898 48987866 48988111 245 249
hScc1 BcellGSE12603 48987557 48988538 981 190
hScc1 CdLSGSE12603 48987525 48988426 901 262
p130 shRbQuiescentGSE19898 48987554 48988163 609 379
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p63 keratinocytesGSE17611 49104004 49105036 1032 19132
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 49083638 49083922 284 0
Myc K562GSE19551 49083569 49084118 549 0
Oct1 H2O2-HelaGSE14283 48990295 48990352 57 0
Oct1 H2O2-HelaGSE14283 49012453 49012482 29 0
Oct1 H2O2-HelaGSE14283 49054275 49054304 29 0
Oct1 HelaGSE14283 48990290 48990351 61 0
Oct1 HelaGSE14283 49054276 49054310 34 0
RNAII Tamoxifen-MCF7GSE14664 49054270 49054312 42 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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