USP17L27

ubiquitin specific peptidase 17 like family member 27

Basic information

Region (hg38): 4:9344148-9345740

Links

ENSG00000235780 ∙ NCBI:728393 ∙ ∙ HGNC:44455 ∙ Uniprot:Q0WX57 ∙ 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 USP17L27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the USP17L27 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			103	1		104
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	103	2	0

Variants in USP17L27

This is a list of pathogenic ClinVar variants found in the USP17L27 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-9344158-A-G		not specified	Uncertain significance (Jan 23, 2024)
4-9344178-G-C		not specified	Uncertain significance (Jun 01, 2023)
4-9344179-A-C		not specified	Uncertain significance (Sep 30, 2024)
4-9344190-A-C		not specified	Uncertain significance (Dec 20, 2023)
4-9344217-C-T		not specified	Uncertain significance (Jul 22, 2024)
4-9344221-C-T		not specified	Uncertain significance (Feb 08, 2025)
4-9344227-C-A		not specified	Uncertain significance (Nov 18, 2021)
4-9344230-C-T		not specified	Uncertain significance (Dec 12, 2023)
4-9344235-G-C		not specified	Uncertain significance (Sep 28, 2021)
4-9344248-G-A		not specified	Uncertain significance (Mar 08, 2024)
4-9344266-A-T		not specified	Uncertain significance (Oct 17, 2023)
4-9344281-G-G		not specified	Uncertain significance (Jun 25, 2024)
4-9344287-C-T		not specified	Uncertain significance (Feb 20, 2025)
4-9344289-C-T		not specified	Uncertain significance (May 13, 2024)
4-9344323-C-G		not specified	Uncertain significance (Nov 14, 2023)
4-9344328-C-A		not specified	Uncertain significance (Nov 15, 2021)
4-9344332-T-A		not specified	Uncertain significance (Oct 05, 2021)
4-9344341-G-A		not specified	Uncertain significance (Nov 09, 2023)
4-9344349-C-A		not specified	Uncertain significance (Jan 17, 2025)
4-9344349-C-T		not specified	Uncertain significance (Aug 15, 2023)
4-9344350-T-C		not specified	Uncertain significance (Aug 27, 2024)
4-9344358-A-G		not specified	Uncertain significance (Jun 11, 2021)
4-9344359-G-C		not specified	Uncertain significance (Jan 31, 2022)
4-9344370-C-T		not specified	Uncertain significance (Feb 14, 2024)
4-9344377-C-T		not specified	Uncertain significance (Dec 24, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection. {ECO:0000269|PubMed:10936051}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Ub-specific processing proteases;Deubiquitination (Consensus)

Haploinsufficiency Scores

• ghis: 0.395