ENST00000394951.5 BCKDK

Information
Transcript ID
ENST00000394951.5
Genome
hg38
Position
chr16:31,106,107-31,112,567
Strand
+
CDS length
1,239
Amino acid length
413
Gene symbol
BCKDK
Gene type
protein-coding
Gene description
branched chain keto acid dehydrogenase kinase
Gene Entrez Gene ID
10295
Variants

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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 31,106,107 31,106,213
2 31,107,807 31,108,145
3 31,109,047 31,109,418
4 31,109,511 31,109,579
5 31,109,673 31,109,783
6 31,110,077 31,110,124
7 31,110,205 31,110,324
8 31,110,401 31,110,499
9 31,110,688 31,110,761
10 31,111,091 31,111,219
11 31,111,300 31,111,389
12 31,111,869 31,112,027
13 31,112,121 31,112,567
CDS
Exon number Type Start Stop
3 CDS 31,109,224 31,109,418
4 CDS 31,109,511 31,109,579
5 CDS 31,109,673 31,109,783
6 CDS 31,110,077 31,110,124
7 CDS 31,110,205 31,110,324
8 CDS 31,110,401 31,110,499
9 CDS 31,110,688 31,110,761
10 CDS 31,111,091 31,111,219
11 CDS 31,111,300 31,111,389
12 CDS 31,111,869 31,112,027
13 CDS 31,112,121 31,112,265
Other genome
Genome Chromosome Start End Links
hg19 chr16 31,117,428 31,123,888 Link
CDS sequence
ATGATCCTGGCGTCGGTGCTGAGGAGCGGTCCCGGGGGCGGGCTTCCGCTCCGGCCCCTCCTGGGACCCGCACTCGCGCTCCGGGCCCGCTCGACGTCGGCCACCGACACACACCACGTGGAGATGGCTCGGGAGCGCTCCAAGACCGTCACCTCCTTTTACAACCAGTCGGCCATCGACGCGGCAGCGGAGAAGCCCTCAGTCCGCCTAACGCCCACCATGATGCTCTACGCTGGCCGCTCTCAGGACGGCAGCCACCTTCTGAAAAGTGCTCGGTACCTGCAGCAAGAACTTCCAGTGAGGATTGCTCACCGCATCAAGGGCTTCCGCTGCCTTCCTTTCATCATTGGCTGCAACCCCACCATACTGCACGTGCATGAGCTATATATCCGTGCCTTCCAGAAGCTGACAGACTTCCCTCCGATCAAGGACCAGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGACAGCTGCTGGATGACCACAAGGATGTGGTGACCCTCTTGGCAGAGGGCCTACGTGAGAGCCGGAAGCACATAGAGGATGAAAAGCTCGTCCGCTACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGAATCCGCATGTTGGCCACGCATCACCTGGCGCTGCATGAGGACAAGCCTGACTTTGTCGGCATCATCTGTACTCGTCTCTCACCAAAGAAGATTATTGAGAAGTGGGTGGACTTTGCCAGACGCCTGTGTGAGCACAAGTATGGCAATGCGCCCCGTGTCCGCATCAATGGCCATGTGGCTGCCCGGTTCCCCTTCATCCCTATGCCACTGGACTACATCCTGCCGGAGCTGCTCAAGAATGCCATGAGAGCCACAATGGAGAGTCACCTAGACACTCCCTACAATGTCCCAGATGTGGTCATCACCATCGCCAACAATGATGTCGATCTGATCATCAGGATCTCAGACCGTGGTGGAGGAATCGCTCACAAAGATCTGGACCGGGTCATGGACTACCACTTCACTACTGCTGAGGCCAGCACACAGGACCCCCGGATCAGCCCCCTCTTTGGCCATCTGGACATGCATAGTGGCGCCCAGTCAGGACCCATGCACGGCTTTGGCTTCGGGTTGCCCACGTCACGGGCCTACGCGGAGTACCTCGGTGGGTCTCTGCAGCTGCAGTCCCTGCAGGGCATTGGCACGGACGTCTACCTGCGGCTCCGCCACATCGATGGCCGGGAGGAAAGCTTCCGGATCTGA
Amino sequence
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGFGFGLPTSRAYAEYLGGSLQLQSLQGIGTDVYLRLRHIDGREESFRI*