UPB1 beta-ureidopropionase 1

Information
Symbol
UPB1
Type
protein-coding
Description
beta-ureidopropionase 1
Entrez Gene ID
51733
Genome
hg19
Position
chr22:24,891,300-24,924,358
Genome
hg38
Position
chr22:24,495,332-24,528,390
MIM
606673 OMIM
HGNC
HGNC:16297 HGNC
Ensembl
ENSG00000100024 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 24
Likely pathogenic 0 14
Benign 0 28
Likely benign 0 98
Conflicting classifications of pathogenicity 0 32
not provided 5 6
Uncertain significance 0 190
Ranking
ClinVar
0
0
58
274
12
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 BUP1
MIM 606673 OMIM
HGNC HGNC:16297 HGNC
Ensembl ENSG00000100024 Ensembl
AllianceGenome HGNC:16297
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000382760.2 hg38 chr22 24,495,242 24,503,738 8,497
ENST00000326010.10 hg38 chr22 24,495,332 24,528,390 33,059
ENST00000382760.2 hg19 chr22 24,891,210 24,899,706 8,497
ENST00000326010.10 hg19 chr22 24,891,300 24,924,358 33,059
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