PSMD8
Basic information
Region (hg38): 19:38374562-38383850
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PSMD8 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 2 | |||||
missense | 9 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 7 | 1 | 3 |
Variants in PSMD8
This is a list of pathogenic ClinVar variants found in the PSMD8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-38374657-C-T | not specified | Uncertain significance (Mar 01, 2023) | ||
19-38374773-C-T | not specified | Likely benign (Sep 29, 2022) | ||
19-38374779-G-A | Benign (Feb 08, 2018) | |||
19-38374782-T-G | not specified | Uncertain significance (Mar 20, 2024) | ||
19-38374786-G-C | not specified | Uncertain significance (Jan 23, 2024) | ||
19-38374839-C-G | not specified | Uncertain significance (Jun 07, 2024) | ||
19-38374860-G-C | not specified | Uncertain significance (May 24, 2023) | ||
19-38374945-A-C | not specified | Uncertain significance (Mar 06, 2023) | ||
19-38374946-G-A | Benign (Jun 19, 2017) | |||
19-38376391-G-A | not specified | Uncertain significance (Aug 10, 2021) | ||
19-38376451-A-G | not specified | Uncertain significance (May 12, 2024) | ||
19-38380925-A-G | Benign (Feb 08, 2018) | |||
19-38383286-A-G | not specified | Uncertain significance (Dec 27, 2022) | ||
19-38383367-C-T | not specified | Uncertain significance (Nov 08, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PSMD8 | protein_coding | protein_coding | ENST00000215071 | 7 | 9289 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0688 | 0.929 | 125569 | 0 | 14 | 125583 | 0.0000557 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.485 | 173 | 192 | 0.902 | 0.0000102 | 2188 |
Missense in Polyphen | 28 | 50.722 | 0.55202 | 641 | ||
Synonymous | 0.0780 | 78 | 78.9 | 0.989 | 0.00000421 | 687 |
Loss of Function | 2.64 | 5 | 16.6 | 0.300 | 8.96e-7 | 180 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000315 | 0.0000315 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.0000979 | 0.0000925 |
European (Non-Finnish) | 0.0000633 | 0.0000617 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.0000372 | 0.0000327 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. {ECO:0000269|PubMed:1317798}.;
- Pathway
- Epstein-Barr virus infection - Homo sapiens (human);Proteasome - Homo sapiens (human);Proteasome Degradation;Parkin-Ubiquitin Proteasomal System pathway;TLR NFkB;B cell receptor signaling;Post-translational protein modification;Metabolism of proteins;DroToll-like;Notch;Hedgehog;IL-1 NFkB;IL-1 p38;IL-1 JNK;TGF-beta super family signaling pathway canonical;TLR p38;UCH proteinases;Neddylation;Ub-specific processing proteases;JAK STAT pathway and regulation;Deubiquitination;TLR JNK;TNF;Wnt Canonical;Wnt Mammals;CD4 T cell receptor signaling-NFkB cascade;CD4 T cell receptor signaling
(Consensus)
Intolerance Scores
- loftool
- 0.273
- rvis_EVS
- -0.36
- rvis_percentile_EVS
- 28.63
Haploinsufficiency Scores
- pHI
- 0.941
- hipred
- Y
- hipred_score
- 0.806
- ghis
- 0.588
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.925
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Psmd8
- Phenotype
Gene ontology
- Biological process
- protein deubiquitination;proteasome-mediated ubiquitin-dependent protein catabolic process;post-translational protein modification
- Cellular component
- proteasome complex;nucleus;nucleoplasm;cytosol;proteasome regulatory particle;proteasome regulatory particle, lid subcomplex;proteasome accessory complex
- Molecular function