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.

• not_specified (179 variants)
• not_provided (5 variants)

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. These statistics are base on transcript: NM_000031454.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			170	7		177
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	170	9	1

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