AutismKB 2.0

Annotation Detail for AMT


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Basic Information Top
Gene Symbol:AMT ( GCE,GCST,GCVT,NKH )
Gene Full Name: aminomethyltransferase
Band: 3p21.31
Quick LinksEntrez ID:275; OMIM: 238310; Uniprot ID:GCST_HUMAN; ENSEMBL ID: ENSG00000145020; HGNC ID: 473
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
141Phosphotyrosine(INSR)HMM predict
282Phosphothreonine(CDC2)HMM predict
348O-linkedHMM predict
353Phosphoserine(CDC2)HMM predict
353PhosphoserineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000481
  • Location:chr3 49429215-49435015
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 49430418 49430589 171 0
CTCF G2GSE9613 49434385 49435631 1246 0
ER Breast-CancerGSE22609 49431156 49431775 619 0
H3ac HepG2E 49432585 49433216 631 0
H3ac HepG2E 49433680 49434673 993 0
TFAP2C MCF7GSE21234 49431153 49431596 443 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