AutismKB 2.0

Annotation Detail for PAX6


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Basic Information Top
Gene Symbol:PAX6 ( AN,AN2,D11S812E,MGC17209,MGDA,WAGR )
Gene Full Name: paired box 6
Band: 11p13
Quick LinksEntrez ID:5080; OMIM: 607108; Uniprot ID:PAX6_HUMAN; ENSEMBL ID: ENSG00000007372; HGNC ID: 8620
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
6Phosphoserine(CK1)HMM predict
119Phosphoserine(CK2)HMM predict
189Phosphoserine(IKK)HMM predict
189Phosphoserine(CK1)HMM predict
197PhosphoserineHMM predict
213N-linkedHMM predict
279Phosphoserine(PKB)HMM predict
279PhosphoserineHMM predict
279Phosphoserine(IKK)HMM predict
279Phosphoserine(PKG)HMM predict
281Phosphothreonine(MAPK)HMM predict
288O-linkedHMM predict
292Phosphoserine(CK1)HMM predict
296Phosphotyrosine(Syk)HMM predict
296Phosphotyrosine(SRC)HMM predict
303O-linkedHMM predict
304O-linkedHMM predict
304Phosphothreonine(CDC2)HMM predict
304Phosphothreonine(CDK)HMM predict
304Phosphothreonine(MAPK)HMM predict
325O-linkedHMM predict
361Phosphoserine(CDC2)HMM predict
372Phosphotyrosine(Syk)HMM predict
389O-linkedHMM predict
392O-linkedHMM predict
393O-linkedHMM predict
394O-linkedHMM predict
408ProlineHMM predict
410Phosphoserine(IKK)HMM predict
415Phosphoserine(ATM)HMM predict
415Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000280
  • Location:chr11 31767034-31789433
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb shRbSenescenceGSE19898 31765609 31765828 219 1316
TFAP2C MCF7GSE21234 31765458 31765818 360 1397
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 31770864 31770897 33 0
H3K27me3 colorectalcancer 31784408 31788102 3694 0
H3K27me3 colorectalcancer 31788699 31789598 899 0
H3K4me3 colorectalcancer 31787302 31788045 743 0
KLF4 hESGSE17917 31778061 31778340 279 0
NRSF pAbJurkat 31776855 31777285 430 0
Oct1 HelaGSE14283 31770425 31770469 44 0
TAF HelaGSE8489 31787302 31788012 710 0
hScc1 BcellGSE12603 31776749 31777040 291 0
hScc1 BcellGSE12603 31782834 31783726 892 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-196a hsa-mir-196a-1 17 19146930
hsa-miR-196a hsa-mir-196a-2 12 19146930
hsa-miR-196a hsa-mir-196a-1 17 19146930
hsa-miR-196a hsa-mir-196a-2 12 19146930
hsa-miR-204 hsa-mir-204 9 20713703
hsa-miR-204 hsa-mir-204 9 20713703
hsa-miR-30a hsa-mir-30a 6 16574096
hsa-miR-30a hsa-mir-30a 6 16574096
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-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 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-1* hsa-mir-30c-1 1 16574096
hsa-miR-30c-2* hsa-mir-30c-2 6 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-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
hsa-miR-30e* hsa-mir-30e 1 16574096
hsa-miR-30e* hsa-mir-30e 1 16574096
hsa-miR-9 hsa-mir-9-1 1 21368052
hsa-miR-9 hsa-mir-9-2 5 21368052
hsa-miR-9 hsa-mir-9-3 15 21368052
hsa-miR-9 hsa-mir-9-1 1 21368052
hsa-miR-9 hsa-mir-9-2 5 21368052
hsa-miR-9 hsa-mir-9-3 15 21368052
hsa-miR-9* hsa-mir-9-2 5 21368052
hsa-miR-9* hsa-mir-9-3 15 21368052
hsa-miR-9* hsa-mir-9-2 5 21368052
hsa-miR-9* hsa-mir-9-3 15 21368052
No data
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