AutismKB

Evidence Detail for ALAS1


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Basic Information Top
Gene Symbol:ALAS1 ( ALAS,ALAS3,ALASH,MIG4 )
Gene Full Name: aminolevulinate, delta-, synthase 1
Band: 3p21.1
Quick LinksEntrez ID:211; OMIM: 125290; Uniprot ID:HEM1_HUMAN; ENSEMBL ID: ENSG00000023330
Sequences Top
>ALAS1|211|nucleotide
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>ALAS1|211|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 1 (1) 10 (2)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Casey, 2011_1 human bloodASD Homozygous Haplotye mapping
  • Subjects: 2584 trios
  • Normal Controls: -
  • Methods: Illumina 1M/1Mduo Genechip
  • Evidence Details: Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.93).
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Purcell, 2001_1 America cerebellum 4
(-)
-autism 4
(-)
-1.51 Down -
  • Platform: Atlas Human Neurobiology array (Clontech Laboratories, Palo Alto, CA)
  • ProbeSet: -
  • RefSeq_ID/ EST: X56351
  • GEO_ID: -
  • Statistic Method: ratio of autism/control
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000478 3 3p21.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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