AutismKB 2.0

Evidence Details for BCKDHB


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BCKDHB ( E1B,FLJ17880,dJ279A18.1 )
Gene Full Name: branched chain keto acid dehydrogenase E1, beta polypeptide
Band: 6q14.1
Quick LinksEntrez ID:594; OMIM: 248611; Uniprot ID:ODBB_HUMAN; ENSEMBL ID: ENSG00000083123; HGNC ID: 987
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BCKDHB|594|nucleotide
ATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTT
TTGCACCCCGCCGCGACTGTCGAGGATGCGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCGGAGCCCCGGGAGTACGGGCAAACTCAGAAA
ATGAATCTTTTCCAGTCTGTAACAAGTGCCTTGGATAACTCATTGGCCAAAGATCCTACTGCAGTAATATTTGGTGAAGATGTTGCCTTTGGTGGAGTCTTTAGA
TGCACTGTTGGCTTGCGAGACAAATATGGAAAAGATAGAGTTTTTAATACCCCATTGTGTGAACAAGGAATTGTTGGATTTGGAATCGGAATTGCGGTCACTGGA
GCTACTGCCATTGCGGAAATTCAGTTTGCAGATTATATTTTCCCTGCATTTGATCAGATTGTTAATGAAGCTGCCAAGTATCGCTATCGCTCTGGGGATCTTTTT
AACTGTGGAAGCCTCACTATCCGGTCCCCTTGGGGCTGTGTTGGTCATGGGGCTCTCTATCATTCTCAGAGTCCTGAAGCATTTTTTGCCCATTGCCCAGGAATC
AAGGTGGTTATACCCAGAAGCCCTTTCCAGGCCAAAGGACTTCTTTTGTCATGCATAGAGGATAAAAATCCTTGTATATTTTTTGAACCTAAAATACTTTACAGG
GCAGCAGCGGAAGAAGTCCCTATAGAACCATACAACATCCCACTGTCCCAGGCCGAAGTCATACAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTCAG
GTTCATGTGATCCGAGAGGTAGCTTCCATGGCAAAAGAAAAGCTTGGAGTGTCTTGTGAAGTCATTGATCTGAGGACTATAATACCTTGGGATGTGGACACAATT
TGTAAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGAGGAATGTTTC
TTGAACCTAGAGGCTCCTATATCAAGAGTATGTGGTTATGACACACCATTTCCTCACATTTTTGAACCATTCTACATCCCAGACAAATGGAAGTGTTATGATGCC
Show »

>BCKDHB|594|protein
MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFR
CTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGI
KVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTI
CKSVIKTGRLLISHEAPLTGGFASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY

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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top