PSMB9 proteasome 20S subunit beta 9
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 4 | 36 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 72 |
| Likely benign | 0 | 340 |
| Conflicting classifications of pathogenicity | 0 | 10 |
| not provided | 28 | 0 |
| Uncertain significance | 0 | 412 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
72 |
![]() |
776 |
![]() |
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
|
| 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 | LMP2 |
| SYNONYM | PRAAS3 |
| SYNONYM | PRAAS6 |
| SYNONYM | PSMB6i |
| SYNONYM | RING12 |
| SYNONYM | beta1i |
| MIM | 177045 OMIM |
| HGNC | HGNC:9546 HGNC |
| Ensembl | ENSG00000240065 Ensembl |
| AllianceGenome | HGNC:9546 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000374859.3 | hg38 | chr6 | 32,854,192 | 32,859,851 | 5,660 |
| ENST00000395330.5 | hg38 | chr6 | 32,844,136 | 32,859,585 | 15,450 |
| ENST00000395330.5 | hg19 | chr6 | 32,811,913 | 32,827,362 | 15,450 |
| ENST00000374859.3 | hg19 | chr6 | 32,821,969 | 32,827,628 | 5,660 |
Genome browser




