AutismKB 2.0

Annotation Detail for APEX2


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Basic Information Top
Gene Symbol:APEX2 ( APE2,APEXL2,XTH2 )
Gene Full Name: APEX nuclease (apurinic/apyrimidinic endonuclease) 2
Band: Xp11.21
Quick LinksEntrez ID:27301; OMIM: 300773; Uniprot ID:APEX2_HUMAN; ENSEMBL ID: ENSG00000169188; HGNC ID: 17889
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
52Phosphothreonine(PKA)HMM predict
71Phosphoserine(CDK)HMM predict
75N-linkedHMM predict
89N-linkedHMM predict
113Phosphotyrosine(INSR)HMM predict
278Phosphotyrosine(INSR)HMM predict
361N-linkedHMM predict
382O-linkedHMM predict
400O-linkedHMM predict
423Phosphothreonine(CDK)HMM predict
426Phosphothreonine(CDC2)HMM predict
426Phosphothreonine(MAPK)HMM predict
426Phosphothreonine(CDK)HMM predict
442Phosphothreonine(PKC)HMM predict
480PhosphothreonineHMM predict
502ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014481
  • Location:chrX 55043504-55050935
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 55042738 55043923 1185 174
NRSF JurkatSISSRdata 55043404 55043579 175 13
PHF8 293TGSE20725 55042835 55044026 1191 74
PHF8 HeLaGSE20725 55042674 55044108 1434 114
Pol2 GM12878GSE19551 55042698 55043870 1172 221
Rb QuiescentGSE19898 55043185 55043554 369 135
Rb SenescentGSE19898 55043018 55043711 693 140
Rb shRbSenescenceGSE19898 55043333 55043578 245 49
TFAP2C MCF7GSE21234 55042936 55043709 773 182
hScc1 G2GSE9613 55042771 55043131 360 554
p130 SenescentGSE19898 55043187 55043697 510 63
p130 shRbQuiescentGSE19898 55043197 55043687 490 63
p130 shRbSenescentGSE19898 55043161 55043759 598 45
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55049735 55050605 870 0
H3ac HepG2E 55042701 55044943 2242 0
Nanog ESGSE20650 55043276 55043736 460 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
256 Unknown MicroArray miR-124 APEX2 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000169188 G1-to-S transition n_a n_a n_a n_a
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