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 | |
---|---|
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0 |
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0 |
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0 |
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4 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CEP52 |
SYNONYM | HUBCEP52 |
SYNONYM | L40 |
SYNONYM | RPL40 |
MIM | 191321 OMIM |
HGNC | HGNC:12458 HGNC |
Ensembl | ENSG00000221983 Ensembl |
AllianceGenome | HGNC:12458 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
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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