Evidence Details for DEFB128

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Basic Information Top

Gene Symbol:	DEFB128 ( DEFB-28,DEFB28,hBD-28 )
Gene Full Name:	defensin, beta 128
Band:	20p13
Quick Links	Entrez ID:245939; OMIM: NA; Uniprot ID:DB128_HUMAN; ENSEMBL ID: ENSG00000185982; HGNC ID: 18106
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>DEFB128|245939|nucleotide
ATGAAGCTGTTTCTGGTTCTCATTATTCTGCTGTTTGAGGTACTCACAGACGGGGCAAGACTCAAAAAATGCTTCAATAAAGTAACAGGCTATTGCAGGAAGAAA
TGCAAGGTAGGAGAAAGATATGAAATAGGATGTCTAAGTGGGAAATTATGTTGTGCTAATGATGAAGAAGAGAAAAAACATGTGTCATTTAAGAAGCCACATCAA
CATTCTGGTGAGAAGCTGAGTGTGCTGCAGGATTACATCATCTTACCCACCATCACCATTTTCACAGTCTAA

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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 (2)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (1)	0 (0)	0 (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
Sebat, 2007	USA	aCGH			autism	165	118	47	99	195	196	391
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-

Linkage Studies Top

AutismKB 2.0

Evidence Details for DEFB128