USP37

ubiquitin specific peptidase 37, the group of Ubiquitin specific peptidases

Basic information

Region (hg38): 2:218450251-218568351

Links

ENSG00000135913 ∙ NCBI:57695 ∙ OMIM:620226 ∙ HGNC:20063 ∙ Uniprot:Q86T82 ∙ 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 USP37 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the USP37 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				1	1	2
missense			30	2	2	34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding				1		1
Total	0	0	30	4	3

Variants in USP37

This is a list of pathogenic ClinVar variants found in the USP37 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-218454943-C-T			Benign (Jul 26, 2018)
2-218454956-C-T		not specified	Uncertain significance (Sep 20, 2023)
2-218454995-C-T		not specified	Uncertain significance (Apr 26, 2023)
2-218455610-C-T		not specified	Uncertain significance (Oct 26, 2021)
2-218455710-T-C		not specified	Uncertain significance (Feb 27, 2023)
2-218459787-T-C			Likely benign (Sep 01, 2023)
2-218463357-C-T		not specified	Uncertain significance (Dec 08, 2023)
2-218466107-G-C		not specified	Uncertain significance (Dec 21, 2023)
2-218466124-G-A			Benign (Aug 14, 2017)
2-218474666-T-C		not specified	Likely benign (Oct 13, 2023)
2-218474821-A-C		not specified	Uncertain significance (Jun 30, 2022)
2-218476866-C-T		not specified	Uncertain significance (Mar 18, 2024)
2-218479692-T-C		not specified	Uncertain significance (Sep 16, 2021)
2-218482092-C-A		not specified	Uncertain significance (Jan 10, 2023)
2-218488351-G-T		not specified	Uncertain significance (Jan 31, 2022)
2-218488414-C-T			Uncertain significance (Sep 01, 2023)
2-218495785-C-T		not specified	Uncertain significance (Jun 07, 2024)
2-218495803-T-C		not specified	Uncertain significance (May 27, 2022)
2-218495852-T-G		not specified	Uncertain significance (May 30, 2024)
2-218495916-T-C		not specified	Uncertain significance (Dec 05, 2022)
2-218495939-T-C			Likely benign (Dec 01, 2022)
2-218497744-T-C		not specified	Uncertain significance (Oct 26, 2021)
2-218510015-A-C		not specified	Uncertain significance (Mar 28, 2023)
2-218510021-G-C			Benign (Aug 14, 2017)
2-218510082-G-T		not specified	Uncertain significance (May 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
USP37	protein_coding	protein_coding	ENST00000258399	23	118111

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000654	125730	0	16	125746	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.46	345	500	0.690	0.0000248	6439
Missense in Polyphen		64	149.68	0.42759		2061
Synonymous	0.891	160	175	0.914	0.00000879	1783
Loss of Function	6.28	5	55.5	0.0901	0.00000291	688

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000936	0.0000936
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000890	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.0000993	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Deubiquitinase that antagonizes the anaphase-promoting complex (APC/C) during G1/S transition by mediating deubiquitination of cyclin-A (CCNA1 and CCNA2), thereby promoting S phase entry. Specifically mediates deubiquitination of 'Lys-11'- linked polyubiquitin chains, a specific ubiquitin-linkage type mediated by the APC/C complex. Also mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains in vitro. Phosphorylation at Ser-628 during G1/S phase maximizes the deubiquitinase activity, leading to prevent degradation of cyclin-A (CCNA1 and CCNA2) (PubMed:21596315). Plays an important role in the regulation of DNA replication by stabilizing the licensing factor CDT1 (PubMed:27296872). {ECO:0000269|PubMed:21596315, ECO:0000269|PubMed:27296872}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Ub-specific processing proteases;Deubiquitination (Consensus)

Recessive Scores

• pRec: 0.0969

Intolerance Scores

• loftool: 0.460
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.52

Haploinsufficiency Scores

• pHI: 0.310
• hipred: Y
• hipred_score: 0.526
• ghis: 0.540

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.841

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Usp37
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: G1/S transition of mitotic cell cycle;regulation of DNA replication;ubiquitin-dependent protein catabolic process;protein deubiquitination;protein K11-linked deubiquitination;cell division;protein K48-linked deubiquitination
• Cellular component: nucleus;nucleoplasm
• Molecular function: cysteine-type endopeptidase activity;thiol-dependent ubiquitin-specific protease activity;protein binding;protein kinase binding;thiol-dependent ubiquitinyl hydrolase activity