PUS10 pseudouridine synthase 10

Information
Symbol
PUS10
Type
protein-coding
Description
pseudouridine synthase 10
Entrez Gene ID
150962
Genome
hg19
Position
chr2:61,167,358-61,245,390
Genome
hg38
Position
chr2:60,940,223-61,018,255
MIM
612787 OMIM
HGNC
HGNC:26505 HGNC
Ensembl
ENSG00000162927 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 2
Benign 0 6
Likely benign 0 52
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 114
Ranking
ClinVar
0
0
14
162
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
SYNONYM CCDC139
SYNONYM DOBI
SYNONYM Hup10
MIM 612787 OMIM
HGNC HGNC:26505 HGNC
Ensembl ENSG00000162927 Ensembl
AllianceGenome HGNC:26505
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000316752.11 hg38 chr2 60,940,223 61,018,255 78,033
ENST00000398658.2 hg38 chr2 61,009,848 61,017,193 7,346
ENST00000407787.5 hg38 chr2 60,942,225 61,017,193 74,969
ENST00000316752.11 hg19 chr2 61,167,358 61,245,390 78,033
ENST00000407787.5 hg19 chr2 61,169,360 61,244,328 74,969
ENST00000398658.2 hg19 chr2 61,236,983 61,244,328 7,346
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