PUS3 pseudouridine synthase 3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 20 |
| Likely pathogenic | 0 | 16 |
| Benign | 0 | 36 |
| Likely benign | 0 | 282 |
| Conflicting classifications of pathogenicity | 0 | 6 |
| no classification for the single variant | 0 | 2 |
| Uncertain significance | 0 | 198 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
72 |
 |
466 |
 |
8 |
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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | 2610020J05Rik |
| SYNONYM | DEG1 |
| SYNONYM | FKSG32 |
| SYNONYM | MRT55 |
| SYNONYM | NEDMIGS |
| MIM | 616283 OMIM |
| HGNC | HGNC:25461 HGNC |
| Ensembl | ENSG00000110060 Ensembl |
| AllianceGenome | HGNC:25461 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000227474.8 | hg38 | chr11 | 125,893,485 | 125,903,206 | 9,722 |
| ENST00000613398.4 | hg38 | chr11 | 125,893,486 | 125,903,221 | 9,736 |
| ENST00000530811.5 | hg38 | chr11 | 125,893,485 | 125,896,330 | 2,846 |
| ENST00000530811.5 | hg19 | chr11 | 125,763,380 | 125,766,225 | 2,846 |
| ENST00000227474.8 | hg19 | chr11 | 125,763,380 | 125,773,101 | 9,722 |
| ENST00000613398.4 | hg19 | chr11 | 125,763,381 | 125,773,116 | 9,736 |
Genome browser