PSMC4 proteasome 26S subunit, ATPase 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 10 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
10 |
![]() |
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 | MIP224 |
SYNONYM | RPT3 |
SYNONYM | S6 |
SYNONYM | TBP-7 |
SYNONYM | TBP7 |
MIM | 602707 OMIM |
HGNC | HGNC:9551 HGNC |
Ensembl | ENSG00000013275 Ensembl |
AllianceGenome | HGNC:9551 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000455878.2 | hg38 | chr19 | 39,971,170 | 39,981,441 | 10,272 |
ENST00000157812.7 | hg38 | chr19 | 39,971,165 | 39,981,764 | 10,600 |
ENST00000157812.7 | hg19 | chr19 | 40,477,072 | 40,487,671 | 10,600 |
ENST00000455878.2 | hg19 | chr19 | 40,477,077 | 40,487,348 | 10,272 |
Genome browser