Evidence Detail for APBA2

View Evidences	View Annotations

Basic Information Top

Gene Symbol:	APBA2 ( D15S1518E,HsT16821,LIN-10,MGC99508,MGC:14091,MINT2,X11L )
Gene Full Name:	amyloid beta (A4) precursor protein-binding, family A, member 2
Band:	15q11-q12
Quick Links	Entrez ID:321; OMIM: 602712; Uniprot ID:APBA2_HUMAN; ENSEMBL ID: ENSG00000034053

Sequences Top

nucleotide Sequence
Protein Sequence

>APBA2|321|nucleotide
ATGGCCCACCGGAAGCTTGAGAGCGTGGGGAGCGGCATGTTGGACCATAGGGTGAGACCAGGTCCTGTCCCTCACAGCCAGGAGCCCGAGAGCGAGGACATGGAG
CTGCCCTTGGAGGGCTATGTGCCCGAGGGCCTGGAGCTGGCTGCCCTGCGGCCAGAGAGCCCCGCGCCAGAGGAACAGGAGTGCCACAACCACAGCCCCGATGGG
GACTCCAGCTCTGACTACGTGAACAACACCTCTGAGGAGGAGGACTATGACGAGGGCCTCCCTGAGGAGGAGGAGGGCATCACCTACTACATCCGCTACTGCCCT
GAGGACGACAGCTACCTAGAGGGCATGGACTGCAACGGGGAGGAGTACCTGGCCCACAGTGCACACCCTGTGGACACTGATGAGTGCCAGGAGGCGGTGGAGGAG
TGGACGGACTCGGCGGGCCCGCACCCCCACGGCCACGAGGCTGAAGGCAGCCAGGACTACCCAGACGGCCAACTGCCCATTCCGGAGGATGAGCCCTCCGTCCTT
GAGGCCCATGACCAGGAAGAAGATGGTCACTACTGTGCCAGCAAAGAGGGCTACCAGGACTACTACCCCGAGGAGGCCAACGGGAACACCGGCGCCTCCCCCTAC
CGCCTGAGGCGTGGGGATGGGGACCTGGAGGACCAGGAGGAGGACATTGACCAGATCGTGGCAGAGATCAAGATGAGTCTGAGCATGACCAGCATCACCAGCGCC
AGTGAGGCCAGCCCCGAGCATGGGCCTGAGCCAGGGCCTGAGGACTCTGTAGAGGCCTGCCCACCCATCAAGGCCAGCTGCAGCCCCAGCAGGCACGAGGCGAGG
CCCAAGTCGCTGAACCTCCTTCCCGAGGCCAAGCACCCCGGAGACCCCCAGAGAGGCTTCAAGCCCAAGACCAGGACCCCAGAAGAGAGGCTGAAGTGGCCCCAC
GAGCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGACAAAGAAGGTGGCATCA
TTTCCAAGTTTTGTGGCTGTTCCAGGGCCCTGCGAACCAGAAGACCTCATCGACGGGATCATCTTTGCTGCCAATTACCTGGGGTCCACCCAGCTGCTATCAGAA
CGGAACCCTTCCAAAAACATCAGAATGATGCAAGCGCAGGAGGCCGTCAGCCGGGTCAAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTC
ATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGAAACCATGATGGACCACGCCTTGCGTACCATCTCCTACATCGCCGACATTGGGAACATTGTA
GTGCTGATGGCCAGACGCCGCATGCCCCGGTCAGCCTCTCAGGACTGCATCGAGACCACGCCCGGGGCCCAGGAAGGCAAGAAGCAGTATAAGATGATCTGCCAT
GTGTTCGAGTCGGAGGATGCCCAGCTCATCGCCCAGTCTATCGGCCAGGCCTTCAGCGTGGCCTACCAGGAGTTCCTGCGAGCCAATGGCATCAACCCCGAAGAC
TTGAGCCAGAAGGAATACAGCGACATCATCAACACCCAGGAGATGTACAACGACGACCTCATCCACTTCTCAAACTCGGAGAACTGCAAGGAGCTGCAGCTGGAG
AAGCACAAGGGCGAGATCCTGGGCGTGGTGGTGGTGGAGTCGGGCTGGGGCTCCATCCTGCCCACGGTGATCCTGGCCAACATGATGAATGGCGGCCCGGCTGCC
CGCTCGGGGAAGCTGAGCATCGGGGACCAGATCATGTCCATCAATGGCACCAGCCTGGTGGGGCTGCCCCTCGCCACCTGCCAAGGCATCATCAAGGGCCTGAAG
AACCAGACACAGGTGAAGCTCAACATTGTCAGCTGTCCCCCGGTCACCACGGTCCTTATCAAGCGGCCAGACCTCAAGTACCAGCTGGGCTTCAGCGTGCAGAAT
GGAATTATCTGCAGCCTCATGAGAGGGGGCATTGCTGAGCGAGGGGGCGTCCGTGTGGGCCACCGCATCATCGAGATCAACGGGCAGAGCGTGGTGGCCACAGCC
CACGAGAAGATAGTCCAAGCTCTGTCCAACTCGGTCGGAGAGATCCACATGAAGACCATGCCCGCCGCCATGTTCAGGCTCCTCACGGGTCAGGAGACCCCGCTG
TACATCTAG
« Hide

>APBA2|321|nucleotide
Show »

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 (19)	1 (1)	0 (1)	1 (1)	14 (4)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 0

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

Case Control Based Association Studies: 1

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
ASIAN
Kato, 2008_1	Japan	5 (detail)	166 (11.45%)			ASD	19.9±9.8 -	-	415 (66.75%)	36±11.5 -

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	Result
Babatz, 2009_1	human	-	-	-	autism	genetics: mutation screen
Subjects: 512 autism probands for study including 428 from multiplex families and 84 from simplex families from AGRE & NIMH Normal Controls: 463 control samples from NIMH Methods: PCR, sequence Evidence Details: we report the results of sequencing the coding regions of APBA2 in 512 subjects with ASD and 463 controls, finding 7 autism-specific and 4 control-specific nonsynonymous sequence changes including two sibs with compound heterozygous nonsynonymous sequence changes.

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
AutCNV0000133	15	15q11-13	gain	1	-	Denovo CNVs;	Jacquemont, 2006
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
AutCNV0000228	15	15q13.1	gain	1	-	CNVs Only Present In Patients;	Christian, 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
AutCNV0000280	15	15q11-13	gain	1	0	CNVs Only Present In Patients;	Bolton, 2004
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
AutCNV0000297	15	15q11-12	gain	1	-	CNVs Only Present In Patients;	Mann, 2004
AutCNV0000424	15	15q13.1	Loss	1	-	Overlapping/Recurrent CNVs;	Gregory, 2009
AutCNV0000589	15	15q13.1	Gain	1	-	Overlapping/Recurrent CNVs;	Gregory, 2009
AutCNV0000676	15	15q11-13	gain	2	-	Overlapping/Recurrent CNVs;	Bremer, 2009
AutCNV0000844	15	15q13.1-13.3	loss	1	-	maternal	Pinto, 2010
AutCNV0000953	15	15q13.1-13.2	gain	1	-	paternal	Pinto, 2010
AutCNV0003714	15	15q13.1	gain	1	-	CNVs Only Present In Patients;	Gai, 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
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
AutLD0000155	15q13.1-q14	15	rs8033248	4.09	-	-	Allen-Brady, 2010

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:

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
Click to Download Data