PDK1 pyruvate dehydrogenase kinase 1

Information
Symbol
PDK1
Type
protein-coding
Description
pyruvate dehydrogenase kinase 1
Entrez Gene ID
5163
Genome
hg19
Position
chr2:173,420,735-173,460,697
Genome
hg38
Position
chr2:172,556,007-172,595,969
MIM
602524 OMIM
HGNC
HGNC:8809 HGNC
Ensembl
ENSG00000152256 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
not provided 0 2
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
52
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
TypeID
MIM 602524 OMIM
HGNC HGNC:8809 HGNC
Ensembl ENSG00000152256 Ensembl
AllianceGenome HGNC:8809
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000410055.5 hg38 chr2 172,556,051 172,599,137 43,087
ENST00000282077.8 hg38 chr2 172,556,090 172,608,669 52,580
ENST00000392571.6 hg38 chr2 172,556,007 172,595,969 39,963
ENST00000392571.6 hg19 chr2 173,420,735 173,460,697 39,963
ENST00000410055.5 hg19 chr2 173,420,779 173,463,865 43,087
ENST00000282077.8 hg19 chr2 173,420,818 173,473,397 52,580
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