UBL7

ubiquitin like 7

Basic information

Region (hg38): 15:74445977-74461182

Links

ENSG00000138629 ∙ NCBI:84993 ∙ OMIM:609748 ∙ HGNC:28221 ∙ Uniprot:Q96S82 ∙ 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 UBL7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBL7 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
missense			17	1	1	19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	2

Variants in UBL7

This is a list of pathogenic ClinVar variants found in the UBL7 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-74446101-C-T		not specified	Uncertain significance (Jun 29, 2022)
15-74446204-C-G		not specified	Uncertain significance (Dec 30, 2024)
15-74449197-G-C		not specified	Uncertain significance (Aug 04, 2024)
15-74449202-G-A		not specified	Uncertain significance (Dec 09, 2024)
15-74449337-G-A		not specified	Uncertain significance (Aug 13, 2021)
15-74449947-C-T		not specified	Uncertain significance (Jan 26, 2025)
15-74449948-G-A		not specified	Uncertain significance (Dec 14, 2023)
15-74449972-G-A		not specified	Uncertain significance (Nov 14, 2024)
15-74449991-A-G			Benign (Apr 20, 2018)
15-74450002-C-T		not specified	Likely benign (Jun 22, 2021)
15-74450020-G-A		not specified	Uncertain significance (Nov 21, 2022)
15-74451445-T-C		not specified	Uncertain significance (Jan 19, 2024)
15-74452328-C-T		not specified	Uncertain significance (Mar 02, 2023)
15-74452342-C-G		not specified	Uncertain significance (Oct 20, 2024)
15-74456596-A-G		not specified	Uncertain significance (Jul 05, 2024)
15-74456608-G-A		not specified	Uncertain significance (Apr 20, 2023)
15-74456625-G-C		not specified	Uncertain significance (Oct 26, 2022)
15-74456627-C-G		not specified	Uncertain significance (Jan 26, 2023)
15-74458797-C-G		not specified	Uncertain significance (Feb 21, 2024)
15-74458798-G-C			Benign (Mar 30, 2018)
15-74458804-T-C		not specified	Uncertain significance (Sep 06, 2022)
15-74458842-G-T		not specified	Uncertain significance (Feb 08, 2025)
15-74458858-A-G		not specified	Uncertain significance (Jun 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UBL7	protein_coding	protein_coding	ENST00000567435	10	15206

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00117	0.990	125694	0	54	125748	0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.29	166	220	0.756	0.0000121	2445
Missense in Polyphen		53	67.806	0.78164		771
Synonymous	0.535	80	86.3	0.927	0.00000465	800
Loss of Function	2.31	8	18.8	0.425	9.83e-7	200

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00139	0.00139
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000884	0.0000703
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0885

Intolerance Scores

• loftool: 0.762
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.19

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.414
• ghis: 0.533

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.949

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ubl7

Gene ontology

• Molecular function: protein binding