Evidence Details for DEFB130

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Basic Information Top

Gene Symbol:	DEFB130 ( DEFB-30 )
Gene Full Name:	defensin, beta 130
Band:	8p23.1
Quick Links	Entrez ID:245940; OMIM: NA; Uniprot ID:DB130_HUMAN; ENSEMBL ID: ENSG00000232948; HGNC ID:
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>DEFB130|245940|nucleotide
ATGAAACTCCATTCCCTTATTTCTGTTCTCCTCCTCTTTGTGACTTTAATACCAAAAGGAAAGACTGGCGTTATTCCAGGACAAAAACAGTGTATTGCTTTGAAA
GGGGTGTGCAGAGACAAACTATGCAGCACACTAGATGATACCATTGGTATATGTAATGAAGGAAAAAAATGTTGTAGAAGGTGGTGGATACTTGAGCCCTATCCA
ACTCCGGTTCCCAAAGGAAAATCTCCTTAG

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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)	1 (3)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	2 (3)

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
Wassink, 2001	USA	Chromosomal analysis of G-band			autism	-	-	-	-	278	-	278
Papanikolaou, 2006	-	FISH			autism	-	-	-	-	1	-	1
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283

Linkage Studies Top

AutismKB 2.0

Evidence Details for DEFB130