AutismKB 2.0

Annotation Detail for AMPD1


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Basic Information Top
Gene Symbol:AMPD1 ( MAD,MADA )
Gene Full Name: adenosine monophosphate deaminase 1
Band: 1p13.2
Quick LinksEntrez ID:270; OMIM: 102770; Uniprot ID:AMPD1_HUMAN; ENSEMBL ID: ENSG00000116748; HGNC ID: 468
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
92Phosphoserine(CK1)HMM predict
106Phosphoserine(CDC2)HMM predict
109Phosphotyrosine(SRC)HMM predict
177N-linkedHMM predict
181Phosphotyrosine(EGFR)HMM predict
216Phosphotyrosine(Abl)HMM predict
258Phosphothreonine(PKC)HMM predict
338N-linkedHMM predict
340Phosphothreonine(PKC)HMM predict
391Phosphotyrosine(Jak)HMM predict
397Phosphotyrosine(INSR)HMM predict
419Phosphotyrosine(EGFR)HMM predict
437Phosphoserine(IKK)HMM predict
452N-linkedHMM predict
511Phosphoserine(CK2)HMM predict
516Phosphoserine(CK1)HMM predict
527PhosphoserineHMM predict
527Phosphoserine(CDK)HMM predict
527Phosphoserine(CDC2)HMM predict
538N-linkedHMM predict
544SulfotyrosineHMM predict
601Phosphoserine(CDC2)HMM predict
606Phosphotyrosine(Jak)HMM predict
618Phosphoserine(CDC2)HMM predict
622N-linkedHMM predict
623N-linkedHMM predict
734TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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