Evidence Details for ATP6V0D1

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	ATP6V0D1 ( ATP6D,ATP6DV,FLJ43534,P39,VATX,VMA6,VPATPD )
Gene Full Name:	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
Band:	16q22.1
Quick Links	Entrez ID:9114; OMIM: 607028; Uniprot ID:VA0D1_HUMAN; ENSEMBL ID: ENSG00000159720; HGNC ID: 13724
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>ATP6V0D1|9114|nucleotide
ATGTCGTTCTTCCCGGAGCTTTACTTTAACGTGGACAATGGCTACTTGGAGGGACTGGTGCGCGGCCTGAAGGCCGGGGTGCTCAGCCAGGCCGACTACCTCAAC
CTGGTGCAGTGCGAGACGCTAGAGGACTTGAAACTGCATCTGCAGAGCACTGATTATGGTAACTTCCTGGCCAACGAGGCATCACCTCTGACGGTGTCAGTCATC
GATGACCGGCTCAAGGAGAAGATGGTGGTGGAGTTCCGCCACATGAGGAACCATGCCTATGAGCCACTCGCCAGCTTCCTAGACTTCATTACTTACAGTTACATG
ATCGACAACGTGATCCTGCTCATCACAGGCACGCTGCACCAGCGCTCCATCGCTGAGCTCGTGCCCAAGTGCCACCCACTAGGCAGCTTCGAGCAGATGGAGGCC
GTGAACATTGCTCAGACACCTGCTGAGCTCTACAATGCCATTCTGGTGGACACGCCTCTTGCGGCTTTTTTCCAGGACTGCATTTCAGAGCAGGACCTTGACGAG
ATGAACATCGAGATCATCCGCAACACCCTCTACAAGGCCTACCTGGAGTCCTTCTACAAGTTCTGCACCCTACTGGGCGGGACTACGGCTGATGCCATGTGCCCC
ATCCTGGAGTTTGAAGCAGACCGCCGCGCCTTCATCATCACCATCAATTCTTTCGGCACAGAGCTGTCCAAAGAGGACCGTGCCAAGCTCTTTCCACACTGTGGG
CGGCTCTACCCTGAGGGCCTGGCGCAGCTGGCTCGGGCTGACGACTATGAACAGGTCAAGAACGTGGCCGATTACTACCCGGAGTACAAGCTGCTCTTCGAGGGT
GCAGGTAGCAACCCTGGAGACAAGACGCTGGAGGACCGATTCTTTGAGCACGAGGTAAAGCTGAACAAGTTGGCCTTCCTGAACCAGTTCCACTTTGGTGTCTTC
TATGCCTTCGTGAAGCTCAAGGAGCAGGAGTGTCGCAACATCGTGTGGATCGCTGAATGTATCGCCCAGCGCCACCGCGCCAAAATCGACAACTACATCCCTATC
TTCTAG
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)	1 (2)	0 (0)	0 (0)	2 (2)	0 (0)	0 (0)	0 (0)	0 (0)	4 (4)

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
Bucan, 2009	USA	SNP microarray			autism, ASD	912	-	912	-	-	1488	1488

Linkage Studies Top

AutismKB 2.0

Evidence Details for ATP6V0D1