PES1 pescadillo ribosomal biogenesis factor 1

Information
Symbol
PES1
Type
protein-coding
Description
pescadillo ribosomal biogenesis factor 1
Entrez Gene ID
23481
Genome
hg19
Position
chr22:30,972,612-30,987,897
Genome
hg38
Position
chr22:30,576,625-30,591,910
MIM
605819 OMIM
HGNC
HGNC:8848 HGNC
Ensembl
ENSG00000100029 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 4
Uncertain significance 0 76
Ranking
ClinVar
0
0
2
80
0
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
SYNONYM NOP7
SYNONYM PES
MIM 605819 OMIM
HGNC HGNC:8848 HGNC
Ensembl ENSG00000100029 Ensembl
AllianceGenome HGNC:8848
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000405677.5 hg38 chr22 30,576,632 30,606,988 30,357
ENST00000354694.12 hg38 chr22 30,576,625 30,591,910 15,286
ENST00000402281.5 hg38 chr22 30,576,628 30,607,083 30,456
ENST00000402284.7 hg38 chr22 30,576,665 30,591,880 15,216
ENST00000335214.8 hg38 chr22 30,576,835 30,591,858 15,024
ENST00000354694.12 hg19 chr22 30,972,612 30,987,897 15,286
ENST00000402281.5 hg19 chr22 30,972,615 31,003,070 30,456
ENST00000405677.5 hg19 chr22 30,972,619 31,002,975 30,357
ENST00000402284.7 hg19 chr22 30,972,652 30,987,867 15,216
ENST00000335214.8 hg19 chr22 30,972,822 30,987,845 15,024
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