RUFY3 RUN and FYVE domain containing 3

Information
Symbol
RUFY3
Type
protein-coding
Description
RUN and FYVE domain containing 3
Entrez Gene ID
22902
Genome
hg19
Position
chr4:71,587,681-71,674,336
Genome
hg38
Position
chr4:70,721,964-70,808,619
MIM
611194 OMIM
HGNC
HGNC:30285 HGNC
Ensembl
ENSG00000018189 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 4
Uncertain significance 0 74
Ranking
ClinVar
0
0
0
82
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 :
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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 RIPX
SYNONYM SINGAR1
SYNONYM ZFYVE30
MIM 611194 OMIM
HGNC HGNC:30285 HGNC
Ensembl ENSG00000018189 Ensembl
AllianceGenome HGNC:30285
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000417478.6 hg38 chr4 70,704,801 70,790,082 85,282
ENST00000381006.8 hg38 chr4 70,721,964 70,808,619 86,656
ENST00000502653.5 hg38 chr4 70,734,434 70,807,102 72,669
ENST00000226328.8 hg38 chr4 70,722,011 70,793,557 71,547
ENST00000417478.6 hg19 chr4 71,570,518 71,655,799 85,282
ENST00000381006.8 hg19 chr4 71,587,681 71,674,336 86,656
ENST00000226328.8 hg19 chr4 71,587,728 71,659,274 71,547
ENST00000502653.5 hg19 chr4 71,600,151 71,672,819 72,669
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