AutismKB 2.0

Annotation Detail for PAX3


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Basic Information Top
Gene Symbol:PAX3 ( CDHS,HUP2,MGC120381,MGC120382,MGC120383,MGC120384,MGC134778,WS1,WS3 )
Gene Full Name: paired box 3
Band: 2q36.1
Quick LinksEntrez ID:5077; OMIM: 606597; Uniprot ID:PAX3_HUMAN; ENSEMBL ID: ENSG00000135903; HGNC ID: 8617
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
153Phosphoserine(CK1)HMM predict
205Phosphoserine(CK1)HMM predict
209Phosphoserine(CK1)HMM predict
222Phosphoserine(PKG)HMM predict
222Phosphoserine(PKA)HMM predict
243SulfotyrosineHMM predict
247SulfotyrosineHMM predict
247Phosphotyrosine(INSR)HMM predict
259Phosphothreonine(PKC)HMM predict
297O-linkedHMM predict
312Phosphotyrosine(SRC)HMM predict
312Phosphotyrosine(Syk)HMM predict
315O-linkedHMM predict
316O-linkedHMM predict
325Phosphoserine(CK1)HMM predict
327Phosphothreonine(PKC)HMM predict
354Phosphotyrosine(INSR)HMM predict
374Phosphoserine(IKK)HMM predict
377O-linkedHMM predict
381N-linkedHMM predict
386N-linkedHMM predict
389Phosphoserine(ATM)HMM predict
422O-linkedHMM predict
424O-linkedHMM predict
426O-linkedHMM predict
430Phosphoserine(ATM)HMM predict
441Phosphoserine(IKK)HMM predict
441Phosphoserine(CK1)HMM predict
445Phosphoserine(IKK)HMM predict
447Phosphoserine(IKK)HMM predict
452O-linkedHMM predict
453Phosphotyrosine(Abl)HMM predict
466Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_013942
  • Location:chr2 222866592-222871943
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 222867102 222867495 393 0
CTCF G2GSE9613 222868616 222868843 227 0
CTCF G2GSE9613 222869961 222870104 143 0
H3K27me3 colorectalcancer 222867565 222868546 981 0
H3K27me3 colorectalcancer 222868874 222874331 5457 0
H3K4me3 colorectalcancer 222870173 222870650 477 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 20956382
hsa-miR-1 hsa-mir-1-1 20 20956382
hsa-miR-1 hsa-mir-1-2 18 20502458
hsa-miR-1 hsa-mir-1-1 20 20502458
hsa-miR-133a hsa-mir-133a-1 18 20502458
hsa-miR-133a hsa-mir-133a-2 20 20502458
hsa-miR-133b hsa-mir-133b 6 20502458
hsa-miR-206 hsa-mir-206 6 20956382
hsa-miR-206 hsa-mir-206 6 20502458
hsa-miR-27a hsa-mir-27a 19 19666532
hsa-miR-27a* hsa-mir-27a 19 19666532
hsa-miR-27b hsa-mir-27b 9 19666532
hsa-miR-27b* hsa-mir-27b 9 19666532
hsa-miR-30a hsa-mir-30a 6 16574096
hsa-miR-30a* hsa-mir-30a 6 16574096
hsa-miR-30b hsa-mir-30b 8 16574096
hsa-miR-30b* hsa-mir-30b 8 16574096
hsa-miR-30c hsa-mir-30c-2 6 16574096
hsa-miR-30c hsa-mir-30c-1 1 16574096
hsa-miR-30c-1* hsa-mir-30c-1 1 16574096
hsa-miR-30c-2* hsa-mir-30c-2 6 16574096
hsa-miR-30d hsa-mir-30d 8 16574096
hsa-miR-30d* hsa-mir-30d 8 16574096
hsa-miR-30e hsa-mir-30e 1 16574096
hsa-miR-30e* hsa-mir-30e 1 16574096
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
15699 mRNA FLJ32447 chr2 222988370 222995441 835 mRNA PAX3 chr2 222890111 222989205 Non-exonic Bidirectional (NOB) pairs

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