UBQLN3

ubiquilin 3, the group of Ubiquilin family

Basic information

Region (hg38): 11:5507300-5509958

Links

ENSG00000175520 ∙ NCBI:50613 ∙ OMIM:605473 ∙ HGNC:12510 ∙ Uniprot:Q9H347 ∙ 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 UBQLN3 gene.

• not_specified (95 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBQLN3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017481.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			88	7		95
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	88	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UBQLN3	protein_coding	protein_coding	ENST00000311659	1	2686

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000180	0.892	125592	0	153	125745	0.000609

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.21	432	367	1.18	0.0000197	4247
Missense in Polyphen		110	98.81	1.1132		1199
Synonymous	-1.32	166	146	1.14	0.00000778	1421
Loss of Function	1.53	10	16.7	0.598	8.11e-7	182

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00104	0.00104
Ashkenazi Jewish	0.00308	0.00308
East Asian	0.000816	0.000816
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000556	0.000545
Middle Eastern	0.000816	0.000816
South Asian	0.000425	0.000425
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0820

Intolerance Scores

• loftool: 0.389
• rvis_EVS: 0.78
• rvis_percentile_EVS: 87.24

Haploinsufficiency Scores

• pHI: 0.166
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0701

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ubqln3
• Phenotype: normal phenotype