PSMG3

proteasome assembly chaperone 3

Basic information

Region (hg38): 7:1567332-1571005

Previous symbols: [ "C7orf48" ]

Links

ENSG00000157778 ∙ NCBI:84262 ∙ OMIM:617528 ∙ HGNC:22420 ∙ Uniprot:Q9BT73 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PSMG3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PSMG3 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			9	1		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	1	0

Variants in PSMG3

This is a list of pathogenic ClinVar variants found in the PSMG3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-1567735-G-A		not specified	Uncertain significance (Jan 24, 2025)
7-1567751-T-C		not specified	Uncertain significance (Oct 18, 2021)
7-1567772-C-T		not specified	Likely benign (Nov 10, 2024)
7-1567811-C-A		not specified	Uncertain significance (Oct 09, 2024)
7-1567850-G-A		not specified	Uncertain significance (May 16, 2024)
7-1569248-T-G		not specified	Uncertain significance (Dec 07, 2024)
7-1569251-C-T		not specified	Uncertain significance (Oct 25, 2023)
7-1569285-C-T		not specified	Uncertain significance (Jul 06, 2021)
7-1569326-G-A		not specified	Uncertain significance (Jun 04, 2024)
7-1569329-G-A		not specified	Uncertain significance (Apr 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PSMG3	protein_coding	protein_coding	ENST00000288607	2	3676

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.200	0.659	125736	0	9	125745	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.520	63	75.7	0.832	0.00000457	786
Missense in Polyphen		10	16.155	0.61899		186
Synonymous	-0.597	41	36.4	1.13	0.00000258	262
Loss of Function	0.988	1	2.78	0.360	1.17e-7	35

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.0000547	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000547	0.0000544
South Asian	0.000131	0.000131
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Chaperone protein which promotes assembly of the 20S proteasome. May cooperate with PSMG1-PSMG2 heterodimers to orchestrate the correct assembly of proteasomes. {ECO:0000269|PubMed:17189198}.

Intolerance Scores

• loftool: 0.283
• rvis_EVS: 0.13
• rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

• pHI: 0.348
• hipred: Y
• hipred_score: 0.716
• ghis: 0.543

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Psmg3