SELENOV

selenoprotein V, the group of Selenoproteins

Basic information

Region (hg38): 19:39515138-39520675

Links

ENSG00000186838 ∙ NCBI:348303 ∙ OMIM:607919 ∙ HGNC:30399 ∙ Uniprot:P59797 ∙ 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 SELENOV gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SELENOV 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			30	1		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	1	0

Variants in SELENOV

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

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

Position	Type	Phenotype	Significance	ClinVar
19-39515235-C-T		not specified	Uncertain significance (Sep 07, 2022)
19-39515316-C-G		not specified	Uncertain significance (Jun 23, 2023)
19-39515331-G-A		not specified	Uncertain significance (Jun 21, 2021)
19-39515339-A-G		not specified	Likely benign (Dec 18, 2023)
19-39515364-C-T		not specified	Uncertain significance (Oct 13, 2023)
19-39515403-C-T		not specified	Uncertain significance (Jan 09, 2024)
19-39515417-A-T		not specified	Uncertain significance (Sep 16, 2021)
19-39515436-C-T		not specified	Uncertain significance (Dec 26, 2023)
19-39515483-G-A		not specified	Uncertain significance (May 29, 2024)
19-39515520-T-C		not specified	Uncertain significance (Dec 30, 2023)
19-39515523-G-A		not specified	Uncertain significance (Jul 21, 2022)
19-39515540-C-T		not specified	Uncertain significance (Oct 05, 2023)
19-39515564-C-T		not specified	Uncertain significance (Mar 15, 2024)
19-39515579-C-G		not specified	Uncertain significance (Jun 21, 2023)
19-39515589-C-A		not specified	Uncertain significance (Jan 19, 2024)
19-39515592-C-T		not specified	Uncertain significance (Sep 26, 2023)
19-39515655-C-T		not specified	Uncertain significance (Nov 09, 2021)
19-39515673-C-T		not specified	Uncertain significance (Jan 03, 2024)
19-39515714-G-T		not specified	Uncertain significance (Jun 27, 2022)
19-39515748-C-G		not specified	Uncertain significance (May 01, 2024)
19-39515751-C-T		not specified	Uncertain significance (Jun 06, 2023)
19-39515766-C-T		not specified	Uncertain significance (May 29, 2024)
19-39515789-C-A		not specified	Uncertain significance (Dec 03, 2021)
19-39515793-C-A		not specified	Uncertain significance (Dec 27, 2023)
19-39515859-C-T		not specified	Uncertain significance (Dec 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SELENOV	protein_coding	protein_coding	ENST00000335426	5	5574

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.68e-11	0.0124	124583	0	61	124644	0.000245

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.581	178	201	0.885	0.00000956	2117
Missense in Polyphen		23	18.716	1.2289		203
Synonymous	1.68	75	96.0	0.782	0.00000475	849
Loss of Function	-1.25	13	8.96	1.45	3.83e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000958	0.0000956
Ashkenazi Jewish	0.00	0.00
East Asian	0.00201	0.00200
Finnish	0.00	0.00
European (Non-Finnish)	0.000127	0.000124
Middle Eastern	0.00201	0.00200
South Asian	0.000294	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in a redox-related process. {ECO:0000305}.
• Pathway: Selenium Micronutrient Network;Selenium Metabolism and Selenoproteins (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.180
• ghis: 0.395

Mouse Genome Informatics

• Gene name: Selenov
• Phenotype: normal phenotype

Gene ontology

• Biological process: response to selenium ion
• Cellular component: cytosol
• Molecular function: protein binding