PUDP pseudouridine 5'-phosphatase

Information
Symbol
PUDP
Type
protein-coding
Description
pseudouridine 5'-phosphatase
Entrez Gene ID
8226
Genome
hg19
Position
chrX:6,967,804-7,066,199
Genome
hg38
Position
chrX:7,049,763-7,148,158
MIM
306480 OMIM
HGNC
HGNC:16818 HGNC
Ensembl
ENSG00000130021 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
not provided 10 0
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
34
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
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 DXF68S1E
SYNONYM FAM16AX
SYNONYM GS1
SYNONYM HDHD1
SYNONYM HDHD1A
MIM 306480 OMIM
HGNC HGNC:16818 HGNC
Ensembl ENSG00000130021 Ensembl
AllianceGenome HGNC:16818
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000381077.10 hg38 chrX 7,048,920 7,148,153 99,234
ENST00000486446.3 hg38 chrX 7,057,707 7,148,125 90,419
ENST00000424830.6 hg38 chrX 7,049,763 7,148,158 98,396
ENST00000412827.6 hg38 chrX 7,049,518 7,148,153 98,636
ENST00000381077.10 hg19 chrX 6,966,961 7,066,194 99,234
ENST00000412827.6 hg19 chrX 6,967,559 7,066,194 98,636
ENST00000424830.6 hg19 chrX 6,967,804 7,066,199 98,396
ENST00000486446.3 hg19 chrX 6,975,748 7,066,166 90,419
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