AutismKB 2.0

Annotation Detail for CMAS


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Basic Information Top
Gene Symbol:CMAS ( - )
Gene Full Name: cytidine monophosphate N-acetylneuraminic acid synthetase
Band: 12p12.1
Quick LinksEntrez ID:55907; OMIM: 603316; Uniprot ID:NEUA_HUMAN; ENSEMBL ID: ENSG00000111726; HGNC ID: 18290
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
31BC1 motif.
206BC2 motif.
276BC3 motif.
Location(AA) Modifications Resource
Location(AA) Modification Resource
11Phosphoserine(IKK)HMM predict
16MethylarginineHMM predict
20O-linkedHMM predict
20Phosphoserine(PKC)HMM predict
21MethylarginineHMM predict
113Phosphoserine(PKB)HMM predict
116Phosphoserine(IKK)HMM predict
119O-linkedHMM predict
122Phosphoserine(CK1)HMM predict
132Phosphotyrosine(INSR)HMM predict
166Phosphotyrosine(EGFR)HMM predict
166Phosphotyrosine(Syk)HMM predict
212Phosphotyrosine(INSR)HMM predict
292Phosphotyrosine(INSR)HMM predict
395O-linkedHMM predict
432S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018686
  • Location:chr12 22090425-22109867
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 22087433 22087874 441 2772
Fos K562GSE19551 22086227 22086497 270 4064
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22090335 22090960 625 0
Oct1 HelaGSE14283 22100827 22100865 38 0
PHF8 293TGSE20725 22090285 22091282 997 0
PHF8 HeLaGSE20725 22089978 22091176 1198 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