UPF3B UPF3B regulator of nonsense mediated mRNA decay
Information
- Symbol
- UPF3B
- Type
- protein-coding
- Description
- UPF3B regulator of nonsense mediated mRNA decay
- Entrez Gene ID
- 65109
- Genome
- hg19
- Position
- chrX:118,967,985-118,986,926
- Genome
- hg38
- Position
- chrX:119,834,022-119,852,963
- MIM
- 300298 OMIM
- HGNC
- HGNC:20439 HGNC
- Ensembl
- ENSG00000125351 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 30 |
| Likely pathogenic | 0 | 14 |
| Benign | 0 | 102 |
| Likely benign | 0 | 166 |
| Conflicting classifications of pathogenicity | 0 | 24 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 154 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
64 |
 |
374 |
 |
6 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| 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
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| Category | : |
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | HUPF3B |
| SYNONYM | MRX62 |
| SYNONYM | MRX82 |
| SYNONYM | MRXS14 |
| SYNONYM | RENT3B |
| SYNONYM | UPF3BP1 |
| SYNONYM | UPF3BP2 |
| SYNONYM | UPF3BP3 |
| SYNONYM | UPF3X |
| SYNONYM | Upf3p-X |
| MIM | 300298 OMIM |
| HGNC | HGNC:20439 HGNC |
| Ensembl | ENSG00000125351 Ensembl |
| AllianceGenome | HGNC:20439 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000345865.6 | hg38 | chrX | 119,834,026 | 119,852,998 | 18,973 |
| ENST00000276201.7 | hg38 | chrX | 119,834,022 | 119,852,963 | 18,942 |
| ENST00000276201.7 | hg19 | chrX | 118,967,985 | 118,986,926 | 18,942 |
| ENST00000345865.6 | hg19 | chrX | 118,967,989 | 118,986,961 | 18,973 |
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