UPF1 UPF1 RNA helicase and ATPase

Information
Symbol
UPF1
Type
protein-coding
Description
UPF1 RNA helicase and ATPase
Entrez Gene ID
5976
Genome
hg19
Position
chr19:18,942,810-18,979,038
Genome
hg38
Position
chr19:18,832,001-18,868,229
MIM
601430 OMIM
HGNC
HGNC:9962 HGNC
Ensembl
ENSG00000005007 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 44
Likely benign 0 28
Uncertain significance 1 70
Ranking
ClinVar
0
0
2
140
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 HUPF1
SYNONYM NORF1
SYNONYM RENT1
SYNONYM UTF
SYNONYM pNORF1
SYNONYM smg-2
MIM 601430 OMIM
HGNC HGNC:9962 HGNC
Ensembl ENSG00000005007 Ensembl
AllianceGenome HGNC:9962
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000599848.5 hg38 chr19 18,832,001 18,868,229 36,229
ENST00000704676.1 hg38 chr19 18,831,959 18,868,230 36,272
ENST00000262803.10 hg38 chr19 18,831,959 18,868,230 36,272
ENST00000262803.10 hg19 chr19 18,942,768 18,979,039 36,272
ENST00000599848.5 hg19 chr19 18,942,810 18,979,038 36,229
ENST00000704676.1 hg19 chr19 18,942,768 18,979,039 36,272
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