AutismKB 2.0

Annotation Detail for APEX1


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Basic Information Top
Gene Symbol:APEX1 ( APE,APE1,APEN,APEX,APX,HAP1,REF1 )
Gene Full Name: APEX nuclease (multifunctional DNA repair enzyme) 1
Band: 14q11.2
Quick LinksEntrez ID:328; OMIM: 107748; Uniprot ID:APEX1_HUMAN; ENSEMBL ID: ENSG00000100823; HGNC ID: 587
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
6N6-acetyllysine; by EP300.
7N6-acetyllysine; by EP300.
27N6-acetyllysine.
31N6-acetyllysine.
32N6-acetyllysine.
35N6-acetyllysine.
65S-nitrosocysteine.
93S-nitrosocysteine.
197N6-acetyllysine.
262Phosphotyrosine.
310S-nitrosocysteine.
Location(AA) Modifications Resource
262Phosphotyrosine.Swiss-Prot 53.0
289Phosphoserine (CK2
Location(AA) Modification Resource
7O-linkedHMM predict
26Phosphoserine(PKG)HMM predict
45Phosphotyrosine(Abl)HMM predict
45Phosphotyrosine(Syk)HMM predict
45PhosphotyrosineHMM predict
54Phosphoserine(CDC2)HMM predict
56O-linkedHMM predict
128Phosphotyrosine(Syk)HMM predict
300IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001641
  • Location:chr14 19993129-19995764
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 19992199 19994002 1803 29
p130 SenescentGSE19898 19992393 19993805 1412 31
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 19992740 19993731 991 0
H3K4me3 colorectalcancer 19993391 19993827 436 0
H3ac HepG2E 19992240 19995555 3315 0
HIF1 HypoHepG2 19992832 19993717 885 0
RARG MCF7GSE15244 19992564 19994040 1476 0
TAF HelaGSE8489 19993827 19994901 1074 0
TAF k562GSE8489 19993467 19995269 1802 0
USF2 HepG2E 19992313 19995444 3131 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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