SELENOO

selenoprotein O, the group of Selenoproteins

Basic information

Region (hg38): 22:50201011-50217616

Links

ENSG00000073169 ∙ NCBI:83642 ∙ OMIM:607917 ∙ HGNC:30395 ∙ Uniprot:Q9BVL4 ∙ 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 SELENOO gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SELENOO 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				2		2
missense			79	3		82
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	79	5	1

Variants in SELENOO

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

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

Position	Type	Phenotype	Significance	ClinVar
22-50201041-C-T		not specified	Uncertain significance (Jul 22, 2022)
22-50201058-C-G		not specified	Uncertain significance (Jul 20, 2022)
22-50201061-G-C		not specified	Uncertain significance (Mar 12, 2024)
22-50201062-G-A		not specified	Uncertain significance (Oct 03, 2022)
22-50201094-C-T		not specified	Uncertain significance (Aug 27, 2024)
22-50201121-C-T		not specified	Uncertain significance (Feb 28, 2024)
22-50201141-C-G			Likely benign (Mar 01, 2023)
22-50201148-A-G		not specified	Uncertain significance (Jan 24, 2024)
22-50201164-G-C		not specified	Uncertain significance (Aug 13, 2021)
22-50201196-G-T		not specified	Uncertain significance (Sep 08, 2023)
22-50201205-G-C		not specified	Uncertain significance (Apr 23, 2024)
22-50201245-C-T		not specified	Uncertain significance (Jun 13, 2022)
22-50201296-C-G		not specified	Uncertain significance (Jul 09, 2024)
22-50201299-C-T		not specified	Uncertain significance (Jun 16, 2023)
22-50201317-G-A		not specified	Uncertain significance (Aug 16, 2022)
22-50201336-G-T		not specified	Uncertain significance (Oct 12, 2021)
22-50201341-C-T		not specified	Uncertain significance (Sep 20, 2023)
22-50201355-G-A		not specified	Uncertain significance (Aug 23, 2021)
22-50201377-G-A		not specified	Uncertain significance (Apr 18, 2023)
22-50201381-G-T		not specified	Uncertain significance (May 23, 2023)
22-50201385-G-C		not specified	Uncertain significance (May 07, 2024)
22-50201388-G-T		not specified	Uncertain significance (Mar 06, 2023)
22-50201397-G-T		not specified	Uncertain significance (Jan 31, 2024)
22-50201412-G-A		not specified	Uncertain significance (Nov 08, 2022)
22-50201412-G-T		not specified	Uncertain significance (May 13, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SELENOO	protein_coding	protein_coding	ENST00000380903	9	16638

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.15e-18	0.000874	124438	1	445	124884	0.00179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.40	436	361	1.21	0.0000261	4190
Missense in Polyphen		161	139.3	1.1557		1552
Synonymous	-3.60	228	169	1.35	0.0000138	1408
Loss of Function	-0.882	24	19.8	1.21	9.13e-7	247

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00328	0.00325
Ashkenazi Jewish	0.0120	0.0120
East Asian	0.00190	0.00189
Finnish	0.00	0.00
European (Non-Finnish)	0.00129	0.00127
Middle Eastern	0.00190	0.00189
South Asian	0.00138	0.00134
Other	0.00183	0.00181

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a redox-active mitochondrial selenoprotein which interacts with a redox target protein. {ECO:0000269|PubMed:24751718}.
• Pathway: Selenium Micronutrient Network;Selenium Metabolism and Selenoproteins (Consensus)

Intolerance Scores

• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.76

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.177
• ghis: 0.523

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Selenoo

Gene ontology

• Cellular component: mitochondrion