USP32

ubiquitin specific peptidase 32, the group of Ubiquitin specific peptidases|EF-hand domain containing

Basic information

Region (hg38): 17:60177327-60422470

Links

ENSG00000170832 ∙ NCBI:84669 ∙ OMIM:607740 ∙ HGNC:19143 ∙ Uniprot:Q8NFA0 ∙ 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 USP32 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the USP32 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			66	1		67
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	66	1	0

Variants in USP32

This is a list of pathogenic ClinVar variants found in the USP32 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-60179414-A-T		not specified	Uncertain significance (May 04, 2022)
17-60179418-G-A		not specified	Uncertain significance (Apr 25, 2023)
17-60180613-C-T		not specified	Uncertain significance (May 28, 2023)
17-60181401-G-A		not specified	Uncertain significance (Mar 06, 2023)
17-60181418-T-C		not specified	Uncertain significance (Dec 02, 2024)
17-60181421-C-T		not specified	Uncertain significance (Jul 09, 2021)
17-60181463-T-C		not specified	Uncertain significance (Nov 09, 2023)
17-60181532-C-T		not specified	Uncertain significance (Apr 29, 2024)
17-60181542-C-A		not specified	Uncertain significance (Oct 20, 2024)
17-60181552-C-A		not specified	Uncertain significance (Apr 22, 2024)
17-60181584-T-C		not specified	Uncertain significance (May 03, 2023)
17-60181625-C-T		not specified	Uncertain significance (May 04, 2022)
17-60181673-C-T		not specified	Uncertain significance (Sep 20, 2023)
17-60181674-G-A		not specified	Uncertain significance (May 12, 2024)
17-60183222-C-A		not specified	Uncertain significance (Oct 29, 2021)
17-60183245-T-C		not specified	Uncertain significance (Oct 06, 2022)
17-60183294-G-T		not specified	Uncertain significance (Oct 20, 2024)
17-60183333-G-C		not specified	Uncertain significance (Aug 22, 2023)
17-60183380-C-T		not specified	Uncertain significance (Dec 27, 2023)
17-60183400-C-A		not specified	Uncertain significance (Jun 02, 2023)
17-60183428-A-C		not specified	Uncertain significance (Jun 16, 2023)
17-60185483-G-T		not specified	Uncertain significance (Aug 08, 2023)
17-60185516-T-C		not specified	Uncertain significance (Apr 13, 2023)
17-60185563-C-T		not specified	Uncertain significance (Jan 19, 2024)
17-60185576-G-A		not specified	Uncertain significance (Feb 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
USP32	protein_coding	protein_coding	ENST00000300896	34	243377

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000367	125726	0	22	125748	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.28	576	844	0.682	0.0000436	10553
Missense in Polyphen		246	463.66	0.53056		6033
Synonymous	2.03	255	300	0.851	0.0000146	2999
Loss of Function	7.65	13	92.3	0.141	0.00000553	1041

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000345	0.000344
Ashkenazi Jewish	0.000303	0.000298
East Asian	0.0000616	0.0000544
Finnish	0.0000933	0.0000924
European (Non-Finnish)	0.0000558	0.0000439
Middle Eastern	0.0000616	0.0000544
South Asian	0.000138	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.301
• rvis_EVS: -2.08
• rvis_percentile_EVS: 1.58

Haploinsufficiency Scores

• pHI: 0.995
• hipred: N
• hipred_score: 0.332
• ghis: 0.567

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.966

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Usp32

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;protein deubiquitination
• Cellular component: Golgi apparatus;cytosol;membrane
• Molecular function: thiol-dependent ubiquitin-specific protease activity;calcium ion binding;protein binding