RPUSD4 RNA pseudouridine synthase D4

Information
Symbol
RPUSD4
Type
protein-coding
Description
RNA pseudouridine synthase D4
Entrez Gene ID
84881
Genome
hg19
Position
chr11:126,071,991-126,081,545
Genome
hg38
Position
chr11:126,202,096-126,211,650
MIM
617488 OMIM
HGNC
HGNC:25898 HGNC
Ensembl
ENSG00000165526 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 12
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
50
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
MIM 617488 OMIM
HGNC HGNC:25898 HGNC
Ensembl ENSG00000165526 Ensembl
AllianceGenome HGNC:25898
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000533628.5 hg38 chr11 126,202,414 126,211,646 9,233
ENST00000298317.9 hg38 chr11 126,202,096 126,211,650 9,555
ENST00000298317.9 hg19 chr11 126,071,991 126,081,545 9,555
ENST00000533628.5 hg19 chr11 126,072,309 126,081,541 9,233
Genome browser