Evidence Details for WBSCR17

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Basic Information Top

Gene Symbol:	WBSCR17 ( DKFZp434I2216,DKFZp761D2324,GALNT16,GALNT20,GALNTL3 )
Gene Full Name:	Williams-Beuren syndrome chromosome region 17
Band:	7q11.23
Quick Links	Entrez ID:64409; OMIM: NA; Uniprot ID:GLTL3_HUMAN; ENSEMBL ID: ENSG00000185274; HGNC ID:
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>WBSCR17|64409|nucleotide
ATGGCTTCACTGAGAAGAGTCAAAGTGCTGTTGGTGTTGAACTTGATCGCGGTAGCCGGCTTCGTGCTCTTCCTGGCCAAGTGCCGGCCCATCGCGGTGCGCAGC
GGAGACGCCTTCCACGAGATCCGGCCGCGCGCCGAGGTGGCCAACCTCAGCGCGCACAGCGCCAGCCCCATCCAGGATGCGGTCCTGAAGCGCCTGTCGCTGCTG
GAGGACATCGTGTACCGGCAGCTGAATGGCTTATCCAAATCCCTTGGGCTCATTGAAGGTTATGGTGGGCGGGGTAAAGGGGGCCTTCCGGCTACTCTTTCCCCG
GCTGAAGAAGAAAAGGCTAAGGGACCCCATGAGAAGTATGGCTACAATTCATACCTCAGTGAAAAAATTTCACTGGACCGTTCCATTCCGGATTATCGTCCCACC
AAGTGTAAGGAGCTCAAGTACTCCAAGGACCTGCCCCAGATATCCATCATATTCATCTTCGTGAACGAGGCCCTGTCGGTGATCCTGCGGTCCGTGCACAGTGCC
GTCAATCACACGCCCACACACCTGCTGAAGGAAATCATTCTGGTGGATGACAACAGCGACGAAGAGGAGCTGAAGGTCCCCCTAGAGGAGTATGTCCACAAACGC
TACCCCGGGCTGGTGAAGGTGGTAAGAAATCAGAAGAGGGAAGGCCTGATCCGCGCTCGCATTGAGGGCTGGAAGGTGGCTACCGGGCAGGTCACTGGCTTCTTT
GATGCCCACGTGGAATTCACCGCTGGCTGGGCTGAGCCGGTTCTATCCCGCATCCAGGAAAACCGGAAGCGTGTGATCCTCCCCTCCATTGACAACATCAAACAG
GACAACTTTGAGGTGCAGCGGTACGAGAACTCGGCCCACGGGTACAGCTGGGAGCTGTGGTGCATGTACATCAGCCCCCCAAAAGACTGGTGGGACGCCGGAGAC
CCTTCTCTCCCCATCAGGACCCCAGCCATGATAGGCTGCTCGTTCGTGGTCAACAGGAAGTTCTTCGGTGAAATTGGTCTTCTGGATCCTGGCATGGATGTATAC
GGAGGAGAAAATATTGAACTGGGAATCAAGGTATGGCTCTGTGGGGGCAGCATGGAGGTCCTTCCTTGCTCACGGGTGGCCCACATTGAGCGGAAGAAGAAGCCA
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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	1 (2)	0 (2)	0 (0)	0 (0)	0 (0)	0 (1)	0 (0)	0 (0)	0 (0)	4 (5)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 2

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			ASD	- -	- -
MIXED/OTHERS
Connolly S, 2017_2	-	Illumina 1Mv1;Illumina 1Mv3 Duo; Illumina HumanOmni2.5 M	2591	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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
Gai, 2011	AGRE	SNP microarray	-	-	autism	-	-	-	-	1224	3801	5025
Levy, 2011	Simons Simplex Collection	aCGH	-	-	ASD	915	915	-	-	-	-	-

Linkage Studies Top

AutismKB 2.0

Evidence Details for WBSCR17