Evidence Detail for NIPA1

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Basic Information Top

Gene Symbol:	NIPA1 ( FSP3,MGC102724,MGC35570,SPG6 )
Gene Full Name:	non imprinted in Prader-Willi/Angelman syndrome 1
Band:	15q11.2
Quick Links	Entrez ID:123606; OMIM: 608145; Uniprot ID:NIPA1_HUMAN; ENSEMBL ID: ENSG00000170113

Sequences Top

nucleotide Sequence
Protein Sequence

>NIPA1|123606|nucleotide
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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)	0 (0)	0 (0)	2 (2)	20 (2)

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	ADI-R	ADOS	Diagnosis	Evidence Level
van der Zwaag, 2009_1	human	blood	-	-	ASD	RNA expression
Subjects: 3 Normal Controls: - Methods: Quantitative RT-PCR Evidence Details: Quantitative RT-PCR analysis revealed over 70% increase in peripheral blood mRNA levels for the four genes present in the duplicated region in patients
van der Zwaag, 2009_2	mouse	embryonic and adult brain	-	-	-	RNA expression
Subjects: - Normal Controls: - Methods: RNA in situ hybridization Evidence Details: RNA in situ hybridization on mouse embryonic and adult brain sections revealed that two of the four genes, CYFIP1 and NIPA1, were highly expressed in the developing mouse brain.

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
AutCNV0000224	15	15q11-13	gain	1	-	CNVs Only Present In Patients;	Christian, 2008
AutCNV0000225	15	15q11-13	gain	1	-	Denovo CNVs;	Christian, 2008
AutCNV0000226	15	15q11-13	gain	1	-	Denovo CNVs;	Christian, 2008
AutCNV0000258	15	15q11-13	gain	1	-	CNVs Only Present In Patients;	Silva, 2002
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
AutCNV0000285	15	15q11-13	gain	3	-	Denovo CNVs;	Sahoo, 2005
AutCNV0000287	15	15p11-q13	gain	4	-	Overlapping/Recurrent CNVs;	Sahoo, 2005
AutCNV0000288	15	15p11-q13	gain	1	-	CNVs Only Present In Patients;	Sahoo, 2005
AutCNV0000290	15	15q11-13	gain	1	-	CNVs Only Present In Patients;	Keller, 2003
AutCNV0000342	15	15q11.2	loss	26	-	CNVs Not Present In Control; Denovo CNVs;	Bucan, 2009
AutCNV0000399	15	15q11.2	gain	3	0	CNVs Only Present In Patients;	van der Zwaag, 2009
AutCNV0000576	15	15q11.1-11.2	Gain	1	-	Overlapping/Recurrent CNVs;	Gregory, 2009
AutCNV0000578	15	15q11.1-11.2	Loss	1	-	Overlapping/Recurrent CNVs;	Gregory, 2009
AutCNV0000585	15	15q11.1-11.2	Gain	1	-	Overlapping/Recurrent CNVs;	Gregory, 2009
AutCNV0000587	15	15q11.2	Loss	1	-	Overlapping/Recurrent CNVs;	Gregory, 2009
AutCNV0000676	15	15q11-13	gain	2	-	Overlapping/Recurrent CNVs;	Bremer, 2009
AutCNV0000739	15	15q11.2	gain	1	-	paternal	Bremer, 2011
AutCNV0000740	15	15q11.2	loss	1	-	paternal	Bremer, 2011
AutCNV0000834	15	15q11.2	loss	1	-	paternal	Pinto, 2010
AutCNV0000842	15	15q11.2	gain	1	-	paternal	Pinto, 2010
AutCNV0002090	15	15q11.2	gain	1	-	paternal	Pinto, 2010
AutCNV0003834	15	15q11.2	gain	1	-	Denovo CNVs;	Levy, 2011
AutCNV0003835	15	15q11.2	loss	1	-	Denovo CNVs;	Levy, 2011
AutCNV0003981	15	15q11.2	loss	1	-	CNVs Only Present In Patients;	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
AutCNV0004314	15	15q11.2-q13.1	gain	1	-	Overlapping/Recurrent CNVs;	Sanders, 2011
AutCNV0004565	15	15q11.2	Loss	1	-	Denovo CNVs;	Patircia, 2011
AutCNV0004630	15	15q11-13	Gain	4	-	CNVs Only Present In Patients;	Cai, 2008

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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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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