AutismKB 2.0

Evidence Details for AMD1


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Basic Information Top
Gene Symbol:AMD1 ( ADOMETDC,AMD,DKFZp313L1234,FLJ26964,SAMDC )
Gene Full Name: adenosylmethionine decarboxylase 1
Band: 6q21
Quick LinksEntrez ID:262; OMIM: 180980; Uniprot ID:DCAM_HUMAN; ENSEMBL ID: ENSG00000123505; HGNC ID: 457
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AMD1|262|nucleotide
ATGGGACGTATGAATTCTGACTGTTGGTACTTATATACTCTGGATTTCCCAGAGAGTCGGGTAATCAGTCAGCCAGATCAAACCTTGGAAATTCTGATGAGTGAG
CTTGACCCAGCAGTTATGGACCAGTTCTACATGAAAGATGGTGTTACTGCAAAGGATGTCACTCGTGAGAGTGGAATTCGTGACCTGATACCAGGTTCTGTCATT
GATGCCACAATGTTCAATCCTTGTGGGTATTCGATGAATGGAATGAAATCGGATGGAACTTATTGGACTATTCACATCACTCCAGAACCAGAATTTTCTTATGTT
AGCTTTGAAACAAACTTAAGTCAGACCTCCTATGATGACCTGATCAGGAAAGTTGTAGAAGTCTTCAAGCCAGGAAAATTTGTGACCACCTTGTTTGTTAATCAG
AGTTCTAAATGTCGCACAGTGCTTGCTTCGCCCCAGAAGATTGAAGGTTTTAAGCGTCTTGATTGCCAGAGTGCTATGTTCAATGATTACAATTTTGTTTTTACC
AGTTTTGCTAAGAAGCAGCAACAACAGCAGAGTTGA





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>AMD1|262|protein
MGRMNSDCWYLYTLDFPESRVISQPDQTLEILMSELDPAVMDQFYMKDGVTAKDVTRESGIRDLIPGSVIDATMFNPCGYSMNGMKSDGTYWTIHITPEPEFSYV
SFETNLSQTSYDDLIRKVVEVFKPGKFVTTLFVNQSSKCRTVLASPQKIEGFKRLDCQSAMFNDYNFVFTSFAKKQQQQQS



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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Bi C, 2012 China GAII- - - - 67 -
Low Scale Gene Studies Top

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  (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