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 Links	Entrez ID:1139; OMIM: 118511; Uniprot ID:ACHA7_HUMAN; ENSEMBL ID: ENSG00000175344

Sequences Top

nucleotide Sequence
Protein Sequence

>CHRNA7|1139|nucleotide
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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)	0 (0)	3 (18)	1 (1)	0 (0)	1 (3)	14 (4)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Population	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

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	Diagnosis	Evidence Level
Martin-Ruiz, 2004_1	human	cortical	AD	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	cortical	AD	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	cortical	AD	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	cerebellar	AD	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	cerebellar	AD	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	cerebellar	AD	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

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

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
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
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
AutCNV0004630	15	15q11-13	Gain	4	-	CNVs Only Present In Patients;	Cai, 2008
AutCNV0004567	15	15q13.3	Loss	1	-	Denovo CNVs;	Patircia, 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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