UBE2QL1

ubiquitin conjugating enzyme E2 Q family like 1

Basic information

Region (hg38): 5:6448858-6496723

Links

ENSG00000215218 ∙ NCBI:134111 ∙ OMIM:615832 ∙ HGNC:37269 ∙ Uniprot:A1L167 ∙ 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 UBE2QL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2QL1 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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in UBE2QL1

This is a list of pathogenic ClinVar variants found in the UBE2QL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-6449045-T-A		not specified	Uncertain significance (Mar 30, 2024)
5-6449119-C-G		not specified	Uncertain significance (Mar 22, 2023)
5-6449223-C-G		not specified	Uncertain significance (Nov 07, 2022)
5-6491341-G-A		not specified	Uncertain significance (Dec 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UBE2QL1	protein_coding	protein_coding	ENST00000399816	2	46287

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.678	0.303	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.14	25	78.3	0.319	0.00000406	1053
Missense in Polyphen		5	33.492	0.14929		430
Synonymous	0.952	27	34.1	0.792	0.00000199	309
Loss of Function	1.78	0	3.70	0.00	1.58e-7	56

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

• Function: FUNCTION: Probable E2 ubiquitin-protein ligase that catalyzes the covalent attachment of ubiquitin to target proteins. May facilitate the monoubiquitination and degradation of MTOR and CCNE1 through interaction with FBXW7. {ECO:0000269|PubMed:24000165}.
• Disease: DISEASE: Note=A chromosomal aberration involving UBE2QL1 has been found in a sporadic case of renal cell carcinoma (RCC). Translocation t(5;19)(p15.3;q12). No gene is disrupted by the chromosome 19 breakpoint. {ECO:0000269|PubMed:24000165}.
• Pathway: Ubiquitin mediated proteolysis - Homo sapiens (human);protein ubiquitylation (Consensus)

Intolerance Scores

• rvis_EVS: 0.15
• rvis_percentile_EVS: 63.81

Haploinsufficiency Scores

• ghis: 0.529

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Ube2ql1

Gene ontology

• Biological process: protein ubiquitination
• Cellular component: nucleus;plasma membrane
• Molecular function: protein binding;ATP binding;ubiquitin conjugating enzyme activity