HJURP Holliday junction recognition protein

Information
Symbol
HJURP
Type
protein-coding
Description
Holliday junction recognition protein
Entrez Gene ID
55355
Genome
hg19
Position
chr2:234,745,348-234,763,181
Genome
hg38
Position
chr2:233,836,702-233,854,535
MIM
612667 OMIM
HGNC
HGNC:25444 HGNC
Ensembl
ENSG00000123485 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 18
Uncertain significance 0 98
Ranking
ClinVar
0
0
0
116
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
SYNONYM FAKTS
SYNONYM URLC9
SYNONYM hFLEG1
MIM 612667 OMIM
HGNC HGNC:25444 HGNC
Ensembl ENSG00000123485 Ensembl
AllianceGenome HGNC:25444
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000411486.7 hg38 chr2 233,836,702 233,854,535 17,834
ENST00000432087.5 hg38 chr2 233,836,701 233,854,566 17,866
ENST00000441687.5 hg38 chr2 233,836,701 233,854,566 17,866
ENST00000432087.5 hg19 chr2 234,745,347 234,763,212 17,866
ENST00000441687.5 hg19 chr2 234,745,347 234,763,212 17,866
ENST00000411486.7 hg19 chr2 234,745,348 234,763,181 17,834
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