AutismKB 2.0

Annotation Detail for PAX4


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Basic Information Top
Gene Symbol:PAX4 ( KPD,MGC129960,MODY9 )
Gene Full Name: paired box 4
Band: 7q32.1
Quick LinksEntrez ID:5078; OMIM: 167413; Uniprot ID:PAX4_HUMAN; ENSEMBL ID: ENSG00000106331; HGNC ID: 8618
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
118Phosphothreonine(MAPK)HMM predict
154Phosphothreonine(CDK)HMM predict
157Phosphoserine(IKK)HMM predict
161Phosphothreonine(CDK)HMM predict
161Phosphothreonine(MAPK)HMM predict
161Phosphothreonine(CDC2)HMM predict
173N-linkedHMM predict
178Phosphoserine(CDC2)HMM predict
180Phosphoserine(ATM)HMM predict
259Phosphoserine(IKK)HMM predict
262O-linkedHMM predict
294Phosphothreonine(CDK)HMM predict
303S-palmitoylHMM predict
342Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006193
  • Location:chr7 127037581-127043015
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 127056657 127056913 256 13770
CTCF CD4SISSRdata 127056657 127056913 256 13770
CTCF G2GSE9613 127045291 127045643 352 2452
CTCF G2GSE9613 127055819 127056930 1111 13359
ER E2-MCF7GSE14664 127044980 127045046 66 1998
H3K27me3 colorectalcancer 127044747 127046605 1858 2661
H3K27me3 colorectalcancer 127047289 127047975 686 4617
hScc1 BcellGSE12603 127055819 127056152 333 12970
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 127034324 127034372 48 3234
Oct1 HelaGSE14283 127037487 127037534 47 71
No data
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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