AutismKB 2.0

Evidence Details for ALAD


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Basic Information Top
Gene Symbol:ALAD ( ALADH,MGC5057,PBGS )
Gene Full Name: aminolevulinate dehydratase
Band: 9q32
Quick LinksEntrez ID:210; OMIM: 125270; Uniprot ID:HEM2_HUMAN; ENSEMBL ID: ENSG00000148218; HGNC ID: 395
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ALAD|210|nucleotide
ATGCAGCCCCAGTCCGTTCTGCACAGCGGCTACTTCCACCCACTACTTCGGGCCTGGCAGACAGCCACCACCACCCTCAATGCCTCCAACCTCATCTACCCCATC
TTTGTCACGGATGTTCCTGATGACATACAGCCTATCACCAGCCTCCCAGGAGTGGCCAGGTATGGTGTGAAGCGGCTGGAAGAGATGCTGAGGCCCTTGGTGGAA
GAGGGCCTACGCTGTGTCTTGATCTTTGGCGTCCCCAGCAGAGTTCCCAAGGACGAGCGGGGTTCCGCAGCTGACTCCGAGGAGTCCCCAGCTATTGAGGCAATC
CATCTGTTGAGGAAGACCTTCCCCAACCTCCTGGTGGCCTGTGATGTCTGCCTGTGTCCCTACACCTCCCATGGTCACTGCGGGCTCCTGAGTGAAAACGGAGCA
TTCCGGGCTGAGGAGAGCCGCCAGCGGCTGGCTGAGGTGGCATTGGCGTATGCCAAGGCAGGATGTCAGGTGGTAGCCCCGTCGGACATGATGGATGGACGCGTG
GAAGCCATCAAAGAGGCCCTGATGGCACATGGACTTGGCAACAGGGTATCGGTGATGAGCTACAGTGCCAAATTTGCTTCCTGTTTCTATGGCCCTTTCCGGGAT
GCAGCTAAGTCAAGCCCAGCTTTTGGGGACCGCCGCTGCTACCAGCTGCCCCCTGGAGCACGAGGCCTGGCTCTCCGAGCTGTGGACCGGGATGTACGGGAAGGA
GCTGACATGCTCATGGTGAAGCCGGGAATGCCCTACCTGGACATCGTGCGGGAGGTAAAGGACAAGCACCCTGACCTCCCTCTCGCCGTGTACCACGTCTCTGGA
GAGTTTGCCATGCTGTGGCATGGAGCCCAGGCCGGGGCATTTGATCTCAAGGCTGCCGTACTGGAGGCCATGACTGCCTTCCGCAGAGCAGGTGCTGACATCATC
ATCACCTACTACACACCGCAGCTGCTGCAGTGGCTGAAGGAGGAATGA

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>ALAD|210|protein
MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAI
HLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRD
AAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADII
ITYYTPQLLQWLKEE

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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) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
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