RPUSD1 RNA pseudouridine synthase domain containing 1

Information
Symbol
RPUSD1
Type
protein-coding
Description
RNA pseudouridine synthase domain containing 1
Entrez Gene ID
113000
Genome
hg19
Position
chr16:834,974-837,981
Genome
hg38
Position
chr16:784,974-787,981
HGNC
HGNC:14173 HGNC
Ensembl
ENSG00000007376 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 10
Uncertain significance 0 72
Ranking
ClinVar
0
0
0
80
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 :
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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 C16orf40
SYNONYM RLUCL
HGNC HGNC:14173 HGNC
Ensembl ENSG00000007376 Ensembl
AllianceGenome HGNC:14173
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000567114.5 hg38 chr16 785,014 788,397 3,384
ENST00000561734.5 hg38 chr16 784,974 787,981 3,008
ENST00000565809.5 hg38 chr16 784,991 788,371 3,381
ENST00000007264.7 hg38 chr16 784,974 788,381 3,408
ENST00000561734.5 hg19 chr16 834,974 837,981 3,008
ENST00000007264.7 hg19 chr16 834,974 838,381 3,408
ENST00000565809.5 hg19 chr16 834,991 838,371 3,381
ENST00000567114.5 hg19 chr16 835,014 838,397 3,384
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