UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1

Information
Symbol
UBA52
Type
protein-coding
Description
ubiquitin A-52 residue ribosomal protein fusion product 1
Entrez Gene ID
7311
Genome
hg19
Position
chr19:18,682,667-18,688,360
Genome
hg38
Position
chr19:18,571,857-18,577,550
MIM
191321 OMIM
HGNC
HGNC:12458 HGNC
Ensembl
ENSG00000221983 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
4
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 CEP52
SYNONYM HUBCEP52
SYNONYM L40
SYNONYM RPL40
MIM 191321 OMIM
HGNC HGNC:12458 HGNC
Ensembl ENSG00000221983 Ensembl
AllianceGenome HGNC:12458
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000430157.6 hg38 chr19 18,571,802 18,575,241 3,440
ENST00000442744.7 hg38 chr19 18,571,857 18,577,550 5,694
ENST00000599595.5 hg38 chr19 18,573,285 18,577,290 4,006
ENST00000596304.5 hg38 chr19 18,571,730 18,575,202 3,473
ENST00000597451.5 hg38 chr19 18,573,265 18,575,241 1,977
ENST00000595158.5 hg38 chr19 18,571,882 18,575,234 3,353
ENST00000599551.5 hg38 chr19 18,572,740 18,575,241 2,502
ENST00000595683.5 hg38 chr19 18,571,875 18,575,242 3,368
ENST00000596273.5 hg38 chr19 18,571,855 18,575,229 3,375
ENST00000598780.5 hg38 chr19 18,571,927 18,575,170 3,244
ENST00000596304.5 hg19 chr19 18,682,540 18,686,012 3,473
ENST00000430157.6 hg19 chr19 18,682,612 18,686,051 3,440
ENST00000596273.5 hg19 chr19 18,682,665 18,686,039 3,375
ENST00000442744.7 hg19 chr19 18,682,667 18,688,360 5,694
ENST00000595683.5 hg19 chr19 18,682,685 18,686,052 3,368
ENST00000595158.5 hg19 chr19 18,682,692 18,686,044 3,353
ENST00000598780.5 hg19 chr19 18,682,737 18,685,980 3,244
ENST00000599551.5 hg19 chr19 18,683,550 18,686,051 2,502
ENST00000597451.5 hg19 chr19 18,684,075 18,686,051 1,977
ENST00000599595.5 hg19 chr19 18,684,095 18,688,100 4,006
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