AutismKB 2.0

Annotation Detail for CMA1


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Basic Information Top
Gene Symbol:CMA1 ( CYH,MCT1,MGC119890,MGC119891,chymase )
Gene Full Name: chymase 1, mast cell
Band: 14q12
Quick LinksEntrez ID:1215; OMIM: 118938; Uniprot ID:CMA1_HUMAN; ENSEMBL ID: ENSG00000092009; HGNC ID: 2097
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
80N-linked (GlcNAc...).
103N-linked (GlcNAc...).
Location(AA) Modifications Resource
80N-linked (GlcNAc...).Swiss-Prot 53.0
103N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
38Phosphotyrosine(Jak)HMM predict
80N-linkedHMM predict
103N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001836
  • Location:chr14 24044551-24047310
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 24051543 24052767 1224 4845
NRSF mAbJurkat 24048368 24048739 371 1243
NRSF mAbJurkat 24049252 24053550 4298 4091
NRSF mAbJurkat 24056681 24057068 387 9564
NRSF-mono JurkatQuESTdata 24051618 24052582 964 4790
NRSF-poly JurkatQuESTdata 24051565 24052727 1162 4836
STAT1 HeLaGSE12782 24051615 24053125 1510 5060
STAT1 HeLaGSE12783 24051610 24053052 1442 5021
STAT1 IFNSISSRdata 24051875 24052635 760 4945
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 24040564 24040744 180 3898
No data
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