PUS1 pseudouridine synthase 1

Information
Symbol
PUS1
Type
protein-coding
Description
pseudouridine synthase 1
Entrez Gene ID
80324
Genome
hg19
Position
chr12:132,413,821-132,430,441
Genome
hg38
Position
chr12:131,929,276-131,945,896
MIM
608109 OMIM
HGNC
HGNC:15508 HGNC
Ensembl
ENSG00000177192 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 66
Likely pathogenic 0 52
Benign 0 52
Likely benign 0 706
Conflicting classifications of pathogenicity 0 40
Uncertain significance 0 254
Ranking
ClinVar
0
0
150
940
8
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 MLASA1
MIM 608109 OMIM
HGNC HGNC:15508 HGNC
Ensembl ENSG00000177192 Ensembl
AllianceGenome HGNC:15508
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000542167.2 hg38 chr12 131,929,276 131,943,859 14,584
ENST00000443358.6 hg38 chr12 131,929,200 131,943,859 14,660
ENST00000376649.8 hg38 chr12 131,929,276 131,945,896 16,621
ENST00000535067.5 hg38 chr12 131,929,755 131,943,857 14,103
ENST00000443358.6 hg19 chr12 132,413,745 132,428,404 14,660
ENST00000542167.2 hg19 chr12 132,413,821 132,428,404 14,584
ENST00000376649.8 hg19 chr12 132,413,821 132,430,441 16,621
ENST00000535067.5 hg19 chr12 132,414,300 132,428,402 14,103
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