PSME3 proteasome activator subunit 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Uncertain significance | 0 | 10 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
12 |
![]() |
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 |
Type | ID |
---|---|
SYNONYM | HEL-S-283 |
SYNONYM | Ki |
SYNONYM | PA28-gamma |
SYNONYM | PA28G |
SYNONYM | PA28gamma |
SYNONYM | REG-GAMMA |
MIM | 605129 OMIM |
HGNC | HGNC:9570 HGNC |
Ensembl | ENSG00000131467 Ensembl |
AllianceGenome | HGNC:9570 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000592169.2 | hg38 | chr17 | 42,833,496 | 42,841,671 | 8,176 |
ENST00000545225.5 | hg38 | chr17 | 42,824,426 | 42,843,239 | 18,814 |
ENST00000590720.6 | hg38 | chr17 | 42,833,397 | 42,843,760 | 10,364 |
ENST00000541124.5 | hg38 | chr17 | 42,833,142 | 42,843,758 | 10,617 |
ENST00000293362.7 | hg38 | chr17 | 42,833,471 | 42,843,757 | 10,287 |
ENST00000441946.6 | hg38 | chr17 | 42,833,418 | 42,843,216 | 9,799 |
ENST00000545225.5 | hg19 | chr17 | 40,976,443 | 40,995,256 | 18,814 |
ENST00000541124.5 | hg19 | chr17 | 40,985,159 | 40,995,775 | 10,617 |
ENST00000590720.6 | hg19 | chr17 | 40,985,414 | 40,995,777 | 10,364 |
ENST00000441946.6 | hg19 | chr17 | 40,985,435 | 40,995,233 | 9,799 |
ENST00000293362.7 | hg19 | chr17 | 40,985,488 | 40,995,774 | 10,287 |
ENST00000592169.2 | hg19 | chr17 | 40,985,513 | 40,993,688 | 8,176 |
Genome browser