AutismKB

Evidence Detail for SLC9A9


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Basic Information Top
Gene Symbol:SLC9A9 ( AUTS16,FLJ35613,NHE9 )
Gene Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 9
Band: 3q24
Quick LinksEntrez ID:285195; OMIM: 608396; Uniprot ID:SL9A9_HUMAN; ENSEMBL ID: ENSG00000181804
Sequences Top
>SLC9A9|285195|nucleotide
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>SLC9A9|285195|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (1) 1 (1) 0 (0) 0 (0) 0 (0) 2 (3) 15 (5)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Morrow, 2008_1 rat hippocampal neurons--- RNA expression
  • Subjects: -
  • Normal Controls: -
  • Methods: qPCR
  • Evidence Details: The three genes within or closest to the two largest deletions (c3orf58, NHE9, and PCDH10) were all independently identified by unbiased screens looking for genes regulated by neuronal activity or for targets of transcription factors induced by activity. Neuronal activity induces a set of transcription factors (including MEF2, NPAS4, CREB, EGR, SRF, and others) with time courses of minutes to hours, and these transcription factors induce or repress specific target genes that mediate synaptic development and plasticity.
Morrow, 2008_2 human bloodautism genetics: mutation screen
  • Subjects: 436
  • Normal Controls: 480
  • Methods: mutation screen
  • Evidence Details: Further analysis of NHE9 demonstrated deleterious sequence variants associated with similiar autistic phenotypes in patients whose parents were not related.
Yasuda, 2011_1 human lymphoblastoid cellsASD mRNA expression level
  • Subjects: 35
  • Normal Controls: 35
  • Methods: RT-PCR
  • Evidence Details: No difference was found in the mRNA expression level of NHE9
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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.30469 Up -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1758315
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
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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