HRURF HR upstream open reading frame

Information
Symbol
HRURF
Type
protein-coding
Description
HR upstream open reading frame
Entrez Gene ID
120766137
Genome
hg19
Position
chr8:21,987,971-21,988,523
Genome
hg38
Position
chr8:22,130,458-22,131,010
MIM
619257 OMIM
HGNC
HGNC:55085 HGNC
Ensembl
ENSG00000288677 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 4
Benign 0 4
Uncertain significance 0 24
Ranking
ClinVar
0
0
2
32
10
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
SYNONYM HMU
SYNONYM MUHH
SYNONYM U2HR
MIM 619257 OMIM
HGNC HGNC:55085 HGNC
Ensembl ENSG00000288677 Ensembl
AllianceGenome HGNC:55085
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000518377.3 hg38 chr8 22,130,458 22,131,010 553
ENST00000518377.3 hg19 chr8 21,987,971 21,988,523 553
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