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GeneBe

SELENOW

selenoprotein W, the group of Selenoproteins

Basic information

Region (hg38): 19:47778676-47784686

Previous symbols: [ "SEPW1" ]

Links

ENSG00000178980NCBI:6415OMIM:603235HGNC:10752Uniprot:P63302AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SELENOW gene.

  • Inborn genetic diseases (1 variants)

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
1
clinvar
1
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 1 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)3159664
19-47780729-G-A not specified Uncertain significance (Oct 26, 2021)3159667
19-47780732-T-G not specified Uncertain significance (Feb 22, 2023)3159668
19-47780903-G-A not specified Uncertain significance (Feb 27, 2023)2472548
19-47781350-G-A not specified Uncertain significance (Jun 21, 2022)3159665
19-47781353-G-A not specified Uncertain significance (Oct 12, 2021)3159666

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SELENOWprotein_codingprotein_codingENST00000601048 56115
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0002680.5641246220151246370.0000602
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2705650.61.110.00000313550
Missense in Polyphen2621.7871.1933257
Synonymous-0.09202322.41.020.00000170161
Loss of Function0.52267.550.7954.23e-784

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002900.0000290
Ashkenazi Jewish0.000.00
East Asian0.00005580.0000556
Finnish0.00004640.0000464
European (Non-Finnish)0.0001070.000106
Middle Eastern0.00005580.0000556
South Asian0.000.00
Other0.000.00

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