RPE ribulose-5-phosphate-3-epimerase

Information
Symbol
RPE
Type
protein-coding
Description
ribulose-5-phosphate-3-epimerase
Entrez Gene ID
6120
Genome
hg19
Position
chr2:210,867,362-210,886,984
Genome
hg38
Position
chr2:210,002,638-210,022,260
MIM
180480 OMIM
HGNC
HGNC:10293 HGNC
Ensembl
ENSG00000197713 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
8
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 RPE2-1
MIM 180480 OMIM
HGNC HGNC:10293 HGNC
Ensembl ENSG00000197713 Ensembl
AllianceGenome HGNC:10293
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000429921.5 hg38 chr2 210,002,628 210,021,576 18,949
ENST00000411934.6 hg38 chr2 210,002,656 210,019,961 17,306
ENST00000445268.5 hg38 chr2 210,002,643 210,019,735 17,093
ENST00000454822.5 hg38 chr2 210,002,628 210,021,226 18,599
ENST00000435437.2 hg38 chr2 210,002,657 210,019,961 17,305
ENST00000452025.5 hg38 chr2 210,002,643 210,019,766 17,124
ENST00000438204.6 hg38 chr2 210,002,643 210,019,961 17,319
ENST00000436630.6 hg38 chr2 210,002,584 210,020,100 17,517
ENST00000354506.10 hg38 chr2 210,002,565 210,022,259 19,695
ENST00000359429.11 hg38 chr2 210,002,638 210,022,260 19,623
ENST00000429907.5 hg38 chr2 210,002,642 210,019,940 17,299
ENST00000354506.10 hg19 chr2 210,867,289 210,886,983 19,695
ENST00000436630.6 hg19 chr2 210,867,308 210,884,824 17,517
ENST00000454822.5 hg19 chr2 210,867,352 210,885,950 18,599
ENST00000429921.5 hg19 chr2 210,867,352 210,886,300 18,949
ENST00000359429.11 hg19 chr2 210,867,362 210,886,984 19,623
ENST00000429907.5 hg19 chr2 210,867,366 210,884,664 17,299
ENST00000445268.5 hg19 chr2 210,867,367 210,884,459 17,093
ENST00000452025.5 hg19 chr2 210,867,367 210,884,490 17,124
ENST00000438204.6 hg19 chr2 210,867,367 210,884,685 17,319
ENST00000411934.6 hg19 chr2 210,867,380 210,884,685 17,306
ENST00000435437.2 hg19 chr2 210,867,381 210,884,685 17,305
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