Evidence Details for SMARCA2

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	SMARCA2 ( BAF190,BRM,FLJ36757,MGC74511,SNF2,SNF2L2,SNF2LA,SWI2,Sth1p,hBRM,hSNF2a )
Gene Full Name:	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Band:	9p24.3
Quick Links	Entrez ID:6595; OMIM: 600014; Uniprot ID:SMCA2_HUMAN; ENSEMBL ID: ENSG00000080503; HGNC ID: 11098
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>SMARCA2|6595|nucleotide
ATGTCCACGCCCACAGACCCTGGTGCGATGCCCCACCCAGGGCCTTCGCCGGGGCCTGGGCCTTCCCCTGGGCCAATTCTTGGGCCTAGTCCAGGACCAGGACCA
TCCCCAGGTTCCGTCCACAGCATGATGGGGCCAAGTCCTGGACCTCCAAGTGTCTCCCATCCTATGCCGACGATGGGGTCCACAGACTTCCCACAGGAAGGCATG
CATCAAATGCATAAGCCCATCGATGGTATACATGACAAGGGGATTGTAGAAGACATCCATTGTGGATCCATGAAGGGCACTGGTATGCGACCACCTCACCCAGGC
ATGGGCCCTCCCCAGAGTCCAATGGATCAACACAGCCAAGGTTATATGTCACCACACCCATCTCCATTAGGAGCCCCAGAGCACGTCTCCAGCCCTATGTCTGGA
GGAGGCCCAACTCCACCTCAGATGCCACCAAGCCAGCCGGGGGCCCTCATCCCAGGTGATCCGCAGGCCATGAGCCAGCCCAACAGAGGTCCCTCACCTTTCAGT
CCTGTCCAGCTGCATCAGCTTCGAGCTCAGATTTTAGCTTATAAAATGCTGGCCCGAGGCCAGCCCCTCCCCGAAACGCTGCAGCTTGCAGTCCAGGGGAAAAGG
ACGTTGCCTGGCTTGCAGCAACAACAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCCGCAGCAGCAGCCGCCGCAA
CCACAGACGCAGCAACAACAGCAGCCGGCCCTTGTTAACTACAACAGACCATCTGGCCCGGGGCCGGAGCTGAGCGGCCCGAGCACCCCGCAGAAGCTGCCGGTG
CCCGCGCCCGGCGGCCGGCCCTCGCCCGCGCCCCCCGCAGCCGCGCAGCCGCCCGCGGCCGCAGTGCCCGGGCCCTCAGTGCCGCAGCCGGCCCCGGGGCAGCCC
TCGCCCGTCCTCCAGCTGCAGCAGAAGCAGAGCCGCATCAGCCCCATCCAGAAACCGCAAGGCCTGGACCCCGTGGAAATTCTGCAAGAGCGGGAATACAGACTT
CAGGCCCGCATAGCTCATAGGATACAAGAACTGGAAAATCTGCCTGGCTCTTTGCCACCAGATTTAAGAACCAAAGCAACCGTGGAACTAAAAGCACTTCGGTTA
Show »

>SMARCA2|6595|protein
MSTPTDPGAMPHPGPSPGPGPSPGPILGPSPGPGPSPGSVHSMMGPSPGPPSVSHPMPTMGSTDFPQEGMHQMHKPIDGIHDKGIVEDIHCGSMKGTGMRPPHPG
MGPPQSPMDQHSQGYMSPHPSPLGAPEHVSSPMSGGGPTPPQMPPSQPGALIPGDPQAMSQPNRGPSPFSPVQLHQLRAQILAYKMLARGQPLPETLQLAVQGKR
TLPGLQQQQQQQQQQQQQQQQQQQQQQQPQQQPPQPQTQQQQQPALVNYNRPSGPGPELSGPSTPQKLPVPAPGGRPSPAPPAAAQPPAAAVPGPSVPQPAPGQP
SPVLQLQQKQSRISPIQKPQGLDPVEILQEREYRLQARIAHRIQELENLPGSLPPDLRTKATVELKALRLLNFQRQLRQEVVACMRRDTTLETALNSKAYKRSKR
QTLREARMTEKLEKQQKIEQERKRRQKHQEYLNSILQHAKDFKEYHRSVAGKIQKLSKAVATWHANTEREQKKETERIEKERMRRLMAEDEEGYRKLIDQKKDRR
Show »

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 (4)	1 (1)	0 (0)	0 (0)	0 (1)	0 (1)	0 (1)	0 (0)	2 (8)

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
Szatmari, 2007	Europe, North America	SNP microarray			ASD	1491	-	-	-	-	-	0
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-
Levy, 2011	Simons Simplex Collection	aCGH	-	-	ASD	915	915	-	-	-	-	-

Linkage Studies Top

AutismKB 2.0

Evidence Details for SMARCA2