PSMD9
Basic information
Region (hg38): 12:121888732-121918297
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 PSMD9 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 | 0 | |||||
missense | 20 | 22 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 20 | 2 | 0 |
Variants in PSMD9
This is a list of pathogenic ClinVar variants found in the PSMD9 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-121888894-C-T | not specified | Uncertain significance (Apr 01, 2024) | ||
12-121888899-G-A | not specified | Uncertain significance (Mar 17, 2023) | ||
12-121894748-A-G | not specified | Likely benign (Jul 12, 2022) | ||
12-121894749-T-C | not specified | Uncertain significance (Feb 28, 2024) | ||
12-121894799-G-A | not specified | Uncertain significance (Aug 16, 2021) | ||
12-121894817-C-T | not specified | Uncertain significance (Aug 20, 2024) | ||
12-121899694-A-G | not specified | Uncertain significance (Mar 07, 2024) | ||
12-121899702-G-A | not specified | Uncertain significance (Jan 29, 2024) | ||
12-121899718-C-T | not specified | Uncertain significance (Mar 27, 2023) | ||
12-121899721-G-A | not specified | Uncertain significance (Jul 16, 2024) | ||
12-121899757-G-T | not specified | Uncertain significance (Apr 20, 2023) | ||
12-121899816-A-G | not specified | Uncertain significance (Nov 15, 2024) | ||
12-121899825-G-A | not specified | Uncertain significance (May 12, 2024) | ||
12-121899835-C-T | not specified | Uncertain significance (May 14, 2024) | ||
12-121903064-A-C | not specified | Uncertain significance (Jun 30, 2023) | ||
12-121915858-G-T | not specified | Uncertain significance (Feb 28, 2023) | ||
12-121915859-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
12-121915871-A-C | not specified | Uncertain significance (Aug 12, 2024) | ||
12-121915872-C-T | not specified | Uncertain significance (Nov 19, 2024) | ||
12-121915881-G-A | not specified | Uncertain significance (Mar 20, 2024) | ||
12-121915885-G-C | not specified | Likely benign (May 05, 2023) | ||
12-121915929-G-C | not specified | Uncertain significance (Apr 07, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PSMD9 | protein_coding | protein_coding | ENST00000541212 | 6 | 29567 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000486 | 0.425 | 125730 | 0 | 16 | 125746 | 0.0000636 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.505 | 124 | 141 | 0.880 | 0.00000819 | 1454 |
Missense in Polyphen | 33 | 49.813 | 0.66247 | 502 | ||
Synonymous | 0.389 | 52 | 55.7 | 0.934 | 0.00000326 | 423 |
Loss of Function | 0.510 | 9 | 10.8 | 0.833 | 4.68e-7 | 123 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000291 | 0.0000291 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000118 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000808 | 0.0000703 |
Middle Eastern | 0.000118 | 0.000109 |
South Asian | 0.000164 | 0.000163 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). During the base subcomplex assembly is part of an intermediate PSMD9:PSMC6:PSMC3 module, also known as modulator trimer complex; PSMD9 is released during the further base assembly process. {ECO:0000269|PubMed:19490896}.;
- Pathway
- 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)
Recessive Scores
- pRec
- 0.145
Intolerance Scores
- loftool
- 0.870
- rvis_EVS
- 0.48
- rvis_percentile_EVS
- 79.25
Haploinsufficiency Scores
- pHI
- 0.477
- hipred
- Y
- hipred_score
- 0.554
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.951
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Psmd9
- Phenotype
Gene ontology
- Biological process
- ubiquitin-dependent protein catabolic process;protein deubiquitination;positive regulation of insulin secretion;post-translational protein modification;positive regulation of transcription, DNA-templated;negative regulation of insulin secretion;proteasome regulatory particle assembly
- Cellular component
- nucleus;nucleoplasm;cytoplasm;cytosol;proteasome regulatory particle;proteasome regulatory particle, base subcomplex
- Molecular function
- transcription coactivator activity;protein binding;bHLH transcription factor binding