UEVLD

UEV and lactate/malate dehyrogenase domains

Basic information

Region (hg38): 11:18529609-18588747

Links

ENSG00000151116 ∙ NCBI:55293 ∙ OMIM:610985 ∙ HGNC:30866 ∙ Uniprot:Q8IX04 ∙ 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 UEVLD gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UEVLD 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			33	1		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	1	0

Variants in UEVLD

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

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

Position	Type	Phenotype	Significance	ClinVar
11-18532334-G-C		not specified	Uncertain significance (Sep 20, 2023)
11-18532402-G-A		not specified	Uncertain significance (Nov 12, 2021)
11-18532414-A-G		not specified	Uncertain significance (Dec 12, 2022)
11-18532447-G-A		not specified	Uncertain significance (Aug 16, 2021)
11-18534401-A-G		not specified	Uncertain significance (Dec 23, 2022)
11-18534418-G-A		not specified	Uncertain significance (Mar 29, 2023)
11-18534428-C-A		not specified	Uncertain significance (Jul 05, 2023)
11-18534435-T-G		not specified	Uncertain significance (Sep 13, 2023)
11-18536467-G-A		not specified	Uncertain significance (Feb 28, 2024)
11-18544691-G-A		not specified	Uncertain significance (Jan 22, 2024)
11-18544745-C-T		not specified	Uncertain significance (Aug 12, 2021)
11-18544782-A-G		not specified	Uncertain significance (Mar 02, 2023)
11-18546882-G-A		not specified	Uncertain significance (Sep 12, 2023)
11-18546904-C-T		not specified	Uncertain significance (Oct 25, 2023)
11-18546954-T-C		not specified	Uncertain significance (Nov 30, 2021)
11-18547003-A-C		not specified	Uncertain significance (May 23, 2023)
11-18558274-C-T		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
11-18558329-C-T		not specified	Uncertain significance (May 11, 2022)
11-18564914-C-G		not specified	Uncertain significance (Aug 12, 2021)
11-18564947-G-T		not specified	Uncertain significance (Dec 06, 2022)
11-18565000-A-T		not specified	Uncertain significance (Jan 16, 2024)
11-18566388-C-G		not specified	Uncertain significance (Aug 30, 2022)
11-18566403-G-A		not specified	Uncertain significance (Sep 29, 2023)
11-18566419-T-G		not specified	Likely benign (Jun 30, 2022)
11-18566468-A-C		not specified	Uncertain significance (Aug 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UEVLD	protein_coding	protein_coding	ENST00000396197	12	59139

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.72e-7	0.945	125698	0	49	125747	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.792	205	240	0.856	0.0000113	3066
Missense in Polyphen		69	99.775	0.69155		1336
Synonymous	0.505	82	88.0	0.932	0.00000438	897
Loss of Function	1.87	14	23.9	0.587	0.00000107	304

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000329	0.000304
Ashkenazi Jewish	0.0000998	0.0000992
East Asian	0.000610	0.000598
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000214	0.000202
Middle Eastern	0.000610	0.000598
South Asian	0.000241	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possible negative regulator of polyubiquitination. {ECO:0000269|PubMed:12427560}.
• Pathway: protein ubiquitylation (Consensus)

Recessive Scores

• pRec: 0.149

Intolerance Scores

• loftool: 0.324
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.73

Haploinsufficiency Scores

• pHI: 0.132
• hipred: N
• hipred_score: 0.216
• ghis: 0.618

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.717

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Uevld
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: carbohydrate metabolic process;cellular protein modification process;biological_process;protein transport;carboxylic acid metabolic process;oxidation-reduction process
• Cellular component: extracellular exosome
• Molecular function: molecular_function;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor