AutismKB

Evidence Detail for CHRNA7


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Basic Information Top
Gene Symbol:CHRNA7 ( CHRNA7-2,NACHRA7 )
Gene Full Name: cholinergic receptor, nicotinic, alpha 7
Band: 15q14
Quick LinksEntrez ID:1139; OMIM: 118511; Uniprot ID:ACHA7_HUMAN; ENSEMBL ID: ENSG00000175344
Sequences Top
>CHRNA7|1139|nucleotide
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>CHRNA7|1139|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 (0) 0 (0) 3 (18) 1 (1) 0 (0) 1 (3) 14 (4)
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
Martin-Ruiz, 2004_1 human corticalAD RNA expression
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: Quantitative RT-PCR
  • Evidence Details: However, for the same brain area, the ratios h2/GAPDH or a8 nAChR/h-actin mRNA expression levels were unchanged
Martin-Ruiz, 2004_1 human corticalAD protein expression
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: western blotting
  • Evidence Details: No change in a7 nAChR expression in parietal cortex was detected
Martin-Ruiz, 2004_1 human corticalAD protein function
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: receptor autoradiography
  • Evidence Details: The a7 receptor subtype, with no significant changes for any of the parameters in autistic samples, seems to be less involved in the cholinergic dysfunction in this area
Martin-Ruiz, 2004_2 human cerebellarAD RNA expression
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: Quantitative RT-PCR
  • Evidence Details: No changes were detected for the ratio of a7 or h2 nAChR subunits to h-actin or GAPDH mRNA expression
Martin-Ruiz, 2004_2 human cerebellarAD protein expression
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: western blotting
  • Evidence Details: For the a7 subunit, although no changes occurred in parietal cortex, in cerebellum a non-significant 27% increase of immunoreactivity was detected in autism samples
Martin-Ruiz, 2004_2 human cerebellarAD protein function
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: receptor autoradiography
  • Evidence Details: the a7-related binding activity is significantly increased in autistic cerebellum
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000010 15 15q11-13.33 gain 1 - Denovo CNVs; Sebat, 2007
AutCNV0000016 15 15q11-13 gain 5 - Overlapping/Recurrent CNVs; Denovo CNVs; Weiss, 2008
AutCNV0000148 15 15q11.2-13.3 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000149 15 15q11.2-13.3 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000181 15 15q11.2-q13.3 gain 1 - Other; Denovo CNVs; Marshall, 2008
AutCNV0000258 15 15q11-13 gain 1 - CNVs Only Present In Patients; Silva, 2002
AutCNV0000268 15 15q11-13 gain 1 - Denovo CNVs; Kwasnicka-Crawford, 2007
AutCNV0000272 15 15q11.2-13 loss 2 - Overlapping/Recurrent CNVs; Wassink, 2001
AutCNV0000273 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000279 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2007
AutCNV0000284 15 15q11-13 gain 3 - Overlapping/Recurrent CNVs; Wolpert, 2000
AutCNV0000287 15 15p11-q13 gain 4 - Overlapping/Recurrent CNVs; Sahoo, 2005
AutCNV0000290 15 15q11-13 gain 1 - CNVs Only Present In Patients; Keller, 2003
AutCNV0000304 15 15q13.2-13.3 gain 1 - Denovo CNVs; Miller, 2009
AutCNV0000393 15 15q13.3 loss 3 - Overlapping/Recurrent CNVs; Pagnamenta, 2009
AutCNV0000424 15 15q13.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000590 15 15q13.2-13.3 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000676 15 15q11-13 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2009
AutCNV0000717 15 15q13.2-q13.3 gain 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000754 15 15q13.2-13.3 loss 1 - paternal Pinto, 2010
AutCNV0000844 15 15q13.1-13.3 loss 1 - maternal Pinto, 2010
AutCNV0001139 15 15q13.3 gain 1 - paternal Pinto, 2010
AutCNV0001140 15 15q13.3 gain 1 - paternal Pinto, 2010
AutCNV0001141 15 15q13.3 gain 1 - paternal Pinto, 2010
AutCNV0001330 15 15q13.3 gain 1 - maternal Pinto, 2010
AutCNV0002093 15 15q13.3 gain 1 - paternal Pinto, 2010
AutCNV0002094 15 15q13.3 gain 1 - paternal Pinto, 2010
AutCNV0002303 15 15q13.3 gain 1 - maternal Pinto, 2010
AutCNV0002861 15 15q13.3 gain 1 - maternal Pinto, 2010
AutCNV0002862 15 15q13.3 gain 1 - maternal Pinto, 2010
AutCNV0002863 15 15q13.3 gain 1 - maternal Pinto, 2010
AutCNV0003837 15 15q13.2-q13.3 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0004311 15 15q11.1-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004312 15 15q11.2-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004313 15 15q11.2-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004318 15 15q13.2-q13.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004319 15 15q13.2-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004320 15 15q13.2-q13.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000155 15q13.1-q14 15 rs8033248 4.09 - - Allen-Brady, 2010

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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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