AutismKB 2.0

Evidence Details 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
Sequences Top
>AMT|275|nucleotide
ATGCAGAGGGCTGTAAGTGTGGTGGCCCGTCTGGGCTTTCGCCTGCAGGCATTCCCCCCGGCCTTGTGTCGTCCACTTAGTTGCGCACAGGAGGTGCTCCGCAGG
ACACCGCTCTATGACTTCCACCTGGCCCACGGCGGGAAAATGGTGGCGTTTGCGGGTTGGAGTCTGCCAGTGCAGTACCGGGACAGTCACACTGACTCGCACCTG
CACACACGCCAGCACTGCTCGCTCTTTGACGTGTCTCATATGCTGCAGACCAAGATACTTGGTAGTGACCGGGTGAAGCTGATGGAGAGTCTAGTGGTTGGAGAC
ATTGCAGAGCTAAGACCAAACCAGGGGACACTGTCGCTGTTTACCAACGAGGCTGGAGGCATCTTAGATGACTTGATTGTAACCAATACTTCTGAGGGCCACCTG
TATGTGGTGTCCAACGCTGGCTGCTGGGAGAAAGATTTGGCCCTCATGCAGGACAAGGTCAGGGAGCTTCAGAACCAGGGCAGAGATGTGGGCCTGGAGGTGTTG
GATAATGCCCTGCTAGCTCTGCAAGGCCCCACTGCAGCCCAGGTACTACAGGCCGGCGTGGCAGATGACCTGAGGAAACTGCCCTTCATGACCAGTGCTGTGATG
GAGGTGTTTGGCGTGTCTGGCTGCCGCGTGACCCGCTGTGGCTACACAGGAGAGGATGGTGTGGAGATCTCGGTGCCGGTAGCGGGGGCAGTTCACCTGGCAACA
GCTATTCTGAAAAACCCAGAGGTGAAGCTGGCAGGGCTGGCAGCCAGGGACAGCCTGCGCCTGGAGGCAGGCCTCTGCCTGTATGGGAATGACATTGATGAACAC
ACTACACCTGTGGAGGGCAGCCTCAGTTGGACACTGGGGAAGCGCCGCCGAGCTGCTATGGACTTCCCTGGAGCCAAGGTCATTGTTCCCCAGCTGAAGGGCAGG
GTGCAGCGGAGGCGTGTGGGGTTGATGTGTGAGGGGGCCCCCATGCGGGCACACAGTCCCATCCTGAACATGGAGGGTACCAAGATTGGTACTGTGACTAGTGGC
TGCCCCTCCCCCTCTCTGAAGAAGAATGTGGCGATGGGTTATGTGCCCTGCGAGTACAGTCGTCCAGGGACAATGCTGCTGGTAGAGGTGCGGCGGAAGCAGCAG
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>AMT|275|protein
MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAHGGKMVAFAGWSLPVQYRDSHTDSHLHTRQHCSLFDVSHMLQTKILGSDRVKLMESLVVGD
IAELRPNQGTLSLFTNEAGGILDDLIVTNTSEGHLYVVSNAGCWEKDLALMQDKVRELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVM
EVFGVSGCRVTRCGYTGEDGVEISVPVAGAVHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHTTPVEGSLSWTLGKRRRAAMDFPGAKVIVPQLKGR
VQRRRVGLMCEGAPMRAHSPILNMEGTKIGTVTSGCPSPSLKKNVAMGYVPCEYSRPGTMLLVEVRRKQQMAVVSKMPFVPTNYYTLK

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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top