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
Related Pathway Information Top
Pathway IDPathway Name
GLYCLEAV-PWYglycine cleavage complex
Pathway IDPathway Name
hsa00910Nitrogen metabolism
hsa00670One carbon pool by folate
hsa01100Metabolic pathways
hsa00260Glycine, serine and threonine metabolism
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of amino acid metabolism
H00191Nonketotic hyperglycinemia
Genetic disorders
No data
No data
No data
Desease Name
Glycine encephalopathy
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D005472 Fluorouracil Fluorouracil results in increased expression of AMT proteinincreases expression 15585135
16803524
C008493 methylselenic acid methylselenic acid results in increased expression of AMT mRNAincreases expression 18548127
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Fluorouracil 2.5117638652
MESH:D000740 Anemia Fluorouracil 4.2217963324 15504547 16511603
MESH:D001943 Breast Neoplasms Fluorouracil 2.4218357371 18608205 16557594 16595493 16110121 19217205 15136595
MESH:D002276 Carcinoid Tumor Fluorouracil 5.7416051944
MESH:D002277 Carcinoma Fluorouracil 3.9717121937
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 2.1216799960 17045692 17971768 16332177 17088986 18930000
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.2018695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5918986760 16757204 16280240 17066447
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2916510598 16340194 17725105 18772588 15001691 17169374 17172411 17287894 17016597 17018589
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0117594712 17695437 17255274 16524972 17016601 17094418 18288408 20501625 16331619 18802399 18949393 16391804 14970324 18448328 15289873 16282729 15148649 16303861 18509181 17401013 17454858 18383874
MESH:D007644 Darier Disease Fluorouracil 5.6816733453
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.5417638652 15173087 16481741 16337965 16785472
MESH:D005910 Glioma Fluorouracil 3.0216145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.7015102660 15162350 18337622
MESH:D020158 Hyperglycinemia, Nonketotic marker/mechanism
MESH:D007680 Kidney Neoplasms Fluorouracil 3.7416985049
MESH:D008113 Liver Neoplasms Fluorouracil 2.6215113037 16603448 17045692 18383874
MESH:D008175 Lung Neoplasms Fluorouracil 2.0115246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.6815086387
MESH:D009062 Mouth Neoplasms Fluorouracil 4.0216757204 18986760
MESH:D009369 Neoplasms Fluorouracil 2.8018600527 18239605 16928823
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.7516436463
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7915113037 16929163 16500647 19003803
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.4718626508 19082440
MESH:D011471 Prostatic Neoplasms methylselenic acid 3.4716205645
MESH:D012004 Rectal Neoplasms Fluorouracil 4.4818286688 15538739 18722050 16160472
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0016424979 19015929 18396642 17498489 17522103 18567086 19084572 16951190 15786421 17172411
MESH:D014062 Tongue Neoplasms Fluorouracil 4.5016280240
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.3816803524
Pathway ID Pathway Name
KEGG:00260 Glycine, serine and threonine metabolism
KEGG:01100 Metabolic pathways
KEGG:00910 Nitrogen metabolism
KEGG:00670 One carbon pool by folate
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24780
  • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450428methotrexate
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00116 - Tetrahydrofolic acid Dietary supplement;Micronutrient
    DB00157 - NADH Dietary supplement;Micronutrient
    DB04789 - 5-methyltetrahydrofolate
    No data
    No data
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    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