Evidence Details for BCKDK

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Basic Information Top

Gene Symbol:	BCKDK ( - )
Gene Full Name:	branched chain ketoacid dehydrogenase kinase
Band:	16p11.2
Quick Links	Entrez ID:10295; OMIM: NA; Uniprot ID:BCKD_HUMAN; ENSEMBL ID: ENSG00000103507; HGNC ID: 16902
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>BCKDK|10295|nucleotide
ATGATCCTGGCGTCGGTGCTGAGGAGCGGTCCCGGGGGCGGGCTTCCGCTCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGGCCCGCTCGACGTCGGCCACC
GACACACACCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGTCACCTCCTTTTACAACCAGTCGGCCATCGACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTA
ACGCCCACCATGATGCTCTACGCTGGCCGCTCTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGTACCTGCAGCAAGAACTTCCAGTGAGGATTGCTCACCGC
ATCAAGGGCTTCCGCTGCCTTCCTTTCATCATTGGCTGCAACCCCACCATACTGCACGTGCATGAGCTATATATCCGTGCCTTCCAGAAGCTGACAGACTTCCCT
CCGATCAAGGACCAGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGACAGCTGCTGGATGACCACAAGGATGTGGTGACCCTCTTGGCAGAGGGCCTACGTGAG
AGCCGGAAGCACATAGAGGATGAAAAGCTCGTCCGCTACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGAATCCGCATGTTGGCCACGCATCACCTGGCGCTG
CATGAGGACAAGCCTGACTTTGTCGGCATCATCTGTACTCGTCTCTCACCAAAGAAGATTATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTGTGAGCACAAG
TATGGCAATGCGCCCCGTGTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCCTTCATCCCTATGCCACTGGACTACATCCTGCCGGAGCTGCTCAAGAATGCC
ATGAGAGCCACAATGGAGAGTCACCTAGACACTCCCTACAATGTCCCAGATGTGGTCATCACCATCGCCAACAATGATGTCGATCTGATCATCAGGATCTCAGAC
CGTGGTGGAGGAATCGCTCACAAAGATCTGGACCGGGTCATGGACTACCACTTCACTACTGCTGAGGCCAGCACACAGGACCCCCGGATCAGCCCCCTCTTTGGC
CATCTGGACATGCATAGTGGCGCCCAGTCAGGACCCATGCACGGGTGA
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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)	2 (4)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	1 (1)	1 (1)	22 (6)

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
Finelli, 2004	-	FISH			autistic feature	-	-	-	-	2	-	2
Weiss, 2008	USA, Ireland	aCGH, SNP microarray			ASD	751	-	-	-	2252	23502	25754
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Zwaag, 2009	-	SNP microarray			autism	-	-	-	-	105	267	372

Linkage Studies Top

AutismKB 2.0

Evidence Details for BCKDK