UFSP1

UFM1 specific peptidase 1 (inactive)

Basic information

Region (hg38): 7:100888721-100889715

Links

ENSG00000176125 ∙ NCBI:402682 ∙ OMIM:611481 ∙ HGNC:33821 ∙ Uniprot:Q6NVU6 ∙ 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 UFSP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UFSP1 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			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in UFSP1

This is a list of pathogenic ClinVar variants found in the UFSP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-100888850-A-G		not specified	Uncertain significance (Jun 10, 2022)
7-100888878-G-A		not specified	Uncertain significance (Jun 10, 2022)
7-100888943-A-G		not specified	Uncertain significance (Jun 03, 2024)
7-100888977-T-C		not specified	Uncertain significance (May 09, 2023)
7-100889013-C-T		not specified	Uncertain significance (Jul 14, 2021)
7-100889028-C-T		not specified	Uncertain significance (Sep 27, 2021)
7-100889066-G-C		not specified	Uncertain significance (Jul 14, 2022)
7-100889081-C-G		not specified	Uncertain significance (Jan 18, 2023)
7-100889126-C-T		not specified	Likely benign (Feb 16, 2023)
7-100889130-C-T		not specified	Uncertain significance (Aug 24, 2023)
7-100889157-G-C		not specified	Uncertain significance (May 23, 2023)
7-100889178-C-T		not specified	Uncertain significance (Dec 28, 2022)
7-100889208-G-C		not specified	Uncertain significance (Aug 02, 2021)
7-100889216-T-A		not specified	Uncertain significance (Sep 16, 2021)
7-100889217-C-T		not specified	Uncertain significance (Jan 08, 2024)
7-100889219-A-T		not specified	Uncertain significance (Jul 09, 2021)
7-100889237-C-T		not specified	Uncertain significance (Jul 31, 2023)
7-100889253-C-T		not specified	Uncertain significance (Mar 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UFSP1	protein_coding	protein_coding	ENST00000388761	1	994

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0271	0.589	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.58	120	80.1	1.50	0.00000370	898
Missense in Polyphen		53	30.906	1.7149		395
Synonymous	-4.25	68	35.7	1.91	0.00000168	308
Loss of Function	0.0846	2	2.13	0.938	9.04e-8	26

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.557
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.32

Haploinsufficiency Scores

• pHI: 0.137
• hipred: N
• hipred_score: 0.201
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0993

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ufsp1

Gene ontology

• Biological process: proteolysis;biological_process
• Molecular function: molecular_function;UFM1 hydrolase activity