SELENOW

selenoprotein W, the group of Selenoproteins

Basic information

Region (hg38): 19:47778676-47784686

Previous symbols: [ "SEPW1" ]

Links

ENSG00000178980 ∙ NCBI:6415 ∙ OMIM:603235 ∙ HGNC:10752 ∙ Uniprot:P63302 ∙ 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 SELENOW gene.

Variants pathogenicity by type

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

Variants in SELENOW

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

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

Position	Type	Phenotype	Significance	ClinVar
19-47778804-G-A		not specified	Uncertain significance (Aug 02, 2021)
19-47780729-G-A		not specified	Uncertain significance (Oct 26, 2021)
19-47780732-T-G		not specified	Uncertain significance (Feb 22, 2023)
19-47780903-G-A		not specified	Uncertain significance (Feb 27, 2023)
19-47781350-G-A		not specified	Uncertain significance (Jun 21, 2022)
19-47781353-G-A		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SELENOW	protein_coding	protein_coding	ENST00000601048	5	6115

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000268	0.564	124622	0	15	124637	0.0000602

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.270	56	50.6	1.11	0.00000313	550
Missense in Polyphen		26	21.787	1.1933		257
Synonymous	-0.0920	23	22.4	1.02	0.00000170	161
Loss of Function	0.522	6	7.55	0.795	4.23e-7	84

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000558	0.0000556
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000107	0.000106
Middle Eastern	0.0000558	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role as a glutathione (GSH)-dependent antioxidant. May be involved in a redox-related process. May play a role in the myopathies of selenium deficiency (By similarity). {ECO:0000250}.
• Pathway: Selenium Micronutrient Network;Selenium Metabolism and Selenoproteins (Consensus)

Haploinsufficiency Scores

• pHI: 0.145
• hipred: N
• hipred_score: 0.170
• ghis: 0.493

Mouse Genome Informatics

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

Gene ontology

• Biological process: response to selenium ion;cellular oxidant detoxification
• Cellular component: cytosol
• Molecular function: antioxidant activity