Evidence Details for SH2D1B

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	SH2D1B ( EAT2 )
Gene Full Name:	SH2 domain containing 1B
Band:	1q23.3
Quick Links	Entrez ID:117157; OMIM: 608510; Uniprot ID:SH21B_HUMAN; ENSEMBL ID: ENSG00000198574; HGNC ID: 30416
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>SH2D1B|117157|nucleotide
ATGGATCTGCCTTACTACCATGGACGTCTGACCAAGCAAGACTGTGAGACCTTGCTGCTCAAGGAAGGGGTGGATGGCAACTTTCTTTTAAGAGACAGCGAGTCG
ATACCAGGAGTCCTGTGCCTCTGTGTCTCGTTTAAAAATATTGTCTACACATACCGAATCTTCAGAGAGAAACACGGGTATTACAGGATACAGACTGCAGAAGGT
TCTCCAAAACAGGTCTTTCCAAGCCTAAAGGAACTGATCTCCAAATTTGAAAAACCAAATCAGGGGATGGTGGTTCACCTTTTAAAGCCAATAAAGAGAACCAGC
CCCAGCTTGAGATGGAGAGGATTGAAATTAGAGTTGGAAACATTTGTGAACAGTAACAGCGATTATGTGGATGTCTTGCCTTGA

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 (1)	1 (1)	0 (0)	3 (3)	0 (0)	0 (0)	0 (0)	0 (0)	5 (5)

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

Linkage Studies Top

AutismKB 2.0

Evidence Details for SH2D1B