AutismKB 2.0

Annotation Detail for AIRE


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Basic Information Top
Gene Symbol:AIRE ( AIRE1,APECED,APS1,APSI,PGA1 )
Gene Full Name: autoimmune regulator
Band: 21q22.3
Quick LinksEntrez ID:326; OMIM: 607358; Uniprot ID:AIRE_HUMAN; ENSEMBL ID: ENSG00000160224; HGNC ID: 360
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
11LXXLL motif 1.
67LXXLL motif 2.
418LXXLL motif 3.
520LXXLL motif 4.
Location(AA) Modifications Resource
Location(AA) Modification Resource
107Phosphoserine(ATM)HMM predict
130Phosphothreonine(PKC)HMM predict
135Phosphoserine(PKG)HMM predict
135Phosphoserine(CK2)HMM predict
147Phosphothreonine(MAPK)HMM predict
147Phosphothreonine(CDK)HMM predict
147PhosphothreonineHMM predict
151O-linkedHMM predict
153Phosphoserine(CDK)HMM predict
153Phosphoserine(MAPK)HMM predict
153Phosphoserine(CDC2)HMM predict
153Phosphoserine(CAMK2)HMM predict
168Phosphoserine(CK2)HMM predict
169Phosphoserine(CK1)HMM predict
183Phosphothreonine(PKC)HMM predict
239Phosphoserine(CK2)HMM predict
248Phosphoserine(CDC2)HMM predict
250Phosphoserine(PKB)HMM predict
250Phosphoserine(IKK)HMM predict
250Phosphoserine(ATM)HMM predict
250Phosphoserine(PKA)HMM predict
278Phosphoserine(IKK)HMM predict
310S-palmitoylHMM predict
311S-palmitoylHMM predict
314S-palmitoylHMM predict
364Phosphothreonine(CDK)HMM predict
402O-linkedHMM predict
449S-palmitoylHMM predict
463Phosphothreonine(PKC)HMM predict
474Phosphoserine(IKK)HMM predict
480Phosphothreonine(MAPK)HMM predict
491Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000383
  • Location:chr21 44530190-44542527
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 44526136 44526600 464 3823
NFkBII GM12878GSE19485 44526172 44527507 1335 3351
NFkBII GM12892GSE19485 44526245 44527235 990 3451
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 44530093 44530693 600 0
hScc1 BcellGSE12603 44533935 44534319 384 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