ATP5F1E ATP synthase F1 subunit epsilon

Information
Symbol
ATP5F1E
Type
protein-coding
Description
ATP synthase F1 subunit epsilon
Entrez Gene ID
514
Genome
hg19
Position
chr20:57,600,530-57,607,390
Genome
hg38
Position
chr20:59,025,475-59,032,335
MIM
606153 OMIM
HGNC
HGNC:838 HGNC
Ensembl
ENSG00000124172 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 12
Likely benign 0 22
Uncertain significance 0 28
Ranking
ClinVar
0
0
6
56
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
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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
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 :
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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
SYNONYM ATP5E
SYNONYM ATPE
SYNONYM MC5DN3
MIM 606153 OMIM
HGNC HGNC:838 HGNC
Ensembl ENSG00000124172 Ensembl
AllianceGenome HGNC:838
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000243997.8 hg38 chr20 59,025,475 59,032,335 6,861
ENST00000395663.1 hg38 chr20 59,025,973 59,032,292 6,320
ENST00000395659.1 hg38 chr20 59,028,678 59,032,345 3,668
ENST00000243997.8 hg19 chr20 57,600,530 57,607,390 6,861
ENST00000395663.1 hg19 chr20 57,601,028 57,607,347 6,320
ENST00000395659.1 hg19 chr20 57,603,733 57,607,400 3,668
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