AutismKB 2.0

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 LinksEntrez ID:10295; OMIM: NA; Uniprot ID:BCKD_HUMAN; ENSEMBL ID: ENSG00000103507; HGNC ID: 16902
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BCKDK|10295|nucleotide
ATGATCCTGGCGTCGGTGCTGAGGAGCGGTCCCGGGGGCGGGCTTCCGCTCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGGCCCGCTCGACGTCGGCCACC
GACACACACCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGTCACCTCCTTTTACAACCAGTCGGCCATCGACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTA
ACGCCCACCATGATGCTCTACGCTGGCCGCTCTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGTACCTGCAGCAAGAACTTCCAGTGAGGATTGCTCACCGC
ATCAAGGGCTTCCGCTGCCTTCCTTTCATCATTGGCTGCAACCCCACCATACTGCACGTGCATGAGCTATATATCCGTGCCTTCCAGAAGCTGACAGACTTCCCT
CCGATCAAGGACCAGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGACAGCTGCTGGATGACCACAAGGATGTGGTGACCCTCTTGGCAGAGGGCCTACGTGAG
AGCCGGAAGCACATAGAGGATGAAAAGCTCGTCCGCTACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGAATCCGCATGTTGGCCACGCATCACCTGGCGCTG
CATGAGGACAAGCCTGACTTTGTCGGCATCATCTGTACTCGTCTCTCACCAAAGAAGATTATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTGTGAGCACAAG
TATGGCAATGCGCCCCGTGTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCCTTCATCCCTATGCCACTGGACTACATCCTGCCGGAGCTGCTCAAGAATGCC
ATGAGAGCCACAATGGAGAGTCACCTAGACACTCCCTACAATGTCCCAGATGTGGTCATCACCATCGCCAACAATGATGTCGATCTGATCATCAGGATCTCAGAC
CGTGGTGGAGGAATCGCTCACAAAGATCTGGACCGGGTCATGGACTACCACTTCACTACTGCTGAGGCCAGCACACAGGACCCCCGGATCAGCCCCCTCTTTGGC
CATCTGGACATGCATAGTGGCGCCCAGTCAGGACCCATGCACGGGTGA
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>BCKDK|10295|protein
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHR
IKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLAL
HEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISD
RGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHG

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Evidence summary Top

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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
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Novarino G, 2012 USA -- 2 - 2 - -
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018