Evidence Details for GAD1

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Basic Information Top

Gene Symbol:	GAD1 ( FLJ45882,GAD,SCP )
Gene Full Name:	glutamate decarboxylase 1 (brain, 67kDa)
Band:	2q31.1
Quick Links	Entrez ID:2571; OMIM: 605363; Uniprot ID:DCE1_HUMAN; ENSEMBL ID: ENSG00000128683; HGNC ID: 4092
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>GAD1|2571|nucleotide
ATGGCGTCTTCGACCCCATCTTCGTCCGCAACCTCCTCGAACGCGGGAGCGGACCCCAATACCACTAACCTGCGCCCCACAACGTACGATACCTGGTGCGGCGTG
GCCCATGGATGCACCAGAAAACTGGGGCTCAAGATCTGCGGCTTCTTGCAAAGGACCAACAGCCTGGAAGAGAAGAGTCGCCTTGTGAGTGCCTTCAAGGAGAGG
CAATCCTCCAAGAACCTGCTTTCCTGTGAAAACAGCGACCGGGATGCCCGCTTCCGGCGCACAGAGACTGACTTCTCTAATCTGTTTGCTAGAGATCTGCTTCCG
GCTAAGAACGGTGAGGAGCAAACCGTGCAATTCCTCCTGGAAGTGGTGGACATACTCCTCAACTATGTCCGCAAGACATTTGATCGCTCCACCAAGGTGCTGGAC
TTTCATCACCCACACCAGTTGCTGGAAGGCATGGAGGGCTTCAACTTGGAGCTCTCTGACCACCCCGAGTCCCTGGAGCAGATCCTGGTTGACTGCAGAGACACC
TTGAAGTATGGGGTTCGCACAGGTCATCCTCGATTTTTCAACCAGCTCTCCACTGGATTGGATATTATTGGCCTAGCTGGAGAATGGCTGACATCAACGGCCAAT
ACCAACATGTTTACATATGAAATTGCACCAGTGTTTGTCCTCATGGAACAAATAACACTTAAGAAGATGAGAGAGATAGTTGGATGGTCAAGTAAAGATGGTGAT
GGGATATTTTCTCCTGGGGGCGCCATATCCAACATGTACAGCATCATGGCTGCTCGCTACAAGTACTTCCCGGAAGTTAAGACAAAGGGCATGGCGGCTGTGCCT
AAACTGGTCCTCTTCACCTCAGAACAGAGTCACTATTCCATAAAGAAAGCTGGGGCTGCACTTGGCTTTGGAACTGACAATGTGATTTTGATAAAGTGCAATGAA
AGGGGGAAAATAATTCCAGCTGATTTTGAGGCAAAAATTCTTGAAGCCAAACAGAAGGGATATGTTCCCTTTTATGTCAATGCAACTGCTGGCACGACTGTTTAT
GGAGCTTTTGATCCGATACAAGAGATTGCAGATATATGTGAGAAATATAACCTTTGGTTGCATGTCGATGCTGCCTGGGGAGGTGGGCTGCTCATGTCCAGGAAG
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Evidence summary 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	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	0 (0)	0 (1)	2 (4)	2 (4)	1 (1)	0 (1)	0 (0)	0 (0)	1 (1)	19 (12)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

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

Reference	Stage	Platform	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Monaco, 2001	-	microsatellite-based genomic screen			PDD	152	-	152	-	-	-	-
Buxbaum, 2001	USA	microsatellite-based genomic screen			autism, PDD, Asperger syndrome	35	-	35	-	-	-	-
Lamb, 2005	-	microsatellite-based genomic screen			autism	207	-	207	-	420	-	-
Lauritsen, 2006	Faroe Islands	microsatellite-based genomic screen			autism	-	-	-	-	12	44	56

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 3

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Rabionet, 2004_1	CAT, AGRE	TaqMan Method	406	- (-)			ASD	- -	- -
Chang, 2010_1	USA	the Sequenom iPLEX platform	715	1372 (20.00%)			ASD	- -	- -
MIXED/OTHERS
Chang, 2011_1	USA	Affymetrix	715	1372 (20.00%)			ASD	- -	- -

Case Control Based Association Studies: 1

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Buttenschon, 2009_1	Denmark	ABI 3100 Prism Genetic Analyzer,Genemapper software			ASD	- (10-19)	-	444 (-)	- (10-19)

Large Scale Expression Studies Top

Microarray Studies: 1

Reference	Source	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%)	0.57547	Down	-
Platform: Illumina Ref8 v3 microarrays ProbeSet: ILMN_2292646 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	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
O'Roak BJ, 2012	1703	209	242	Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
No matched NGS Other Studies!

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

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.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for GAD1

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics