SELENOF

selenoprotein F, the group of Selenoproteins

Basic information

Region (hg38): 1:86862445-86914424

Links

ENSG00000183291NCBI:9403OMIM:606254HGNC:17705Uniprot:O60613AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SELENOF 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
8
clinvar
2
clinvar
10
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 8 2 0

Variants in SELENOF

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

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

Position Type Phenotype Significance ClinVar
1-86863481-C-T not specified Uncertain significance (Apr 25, 2023)2568480
1-86863482-G-A not specified Uncertain significance (Jan 31, 2022)3159505
1-86863483-T-A not specified Uncertain significance (Nov 02, 2023)3159504
1-86863582-T-C not specified Likely benign (Jan 23, 2024)3159503
1-86868082-G-A not specified Uncertain significance (Feb 12, 2024)3159502
1-86868084-T-C not specified Uncertain significance (May 23, 2024)3317223
1-86903348-T-C not specified Uncertain significance (Sep 14, 2022)3159499
1-86903357-C-A not specified Uncertain significance (Jul 20, 2021)3159498
1-86903402-A-G not specified Uncertain significance (Dec 27, 2023)3159497
1-86914044-G-T not specified Uncertain significance (Apr 01, 2024)3317224
1-86914072-G-A not specified Uncertain significance (May 21, 2024)3317225
1-86914087-T-C not specified Likely benign (Jan 23, 2024)3159501
1-86914090-G-A not specified Uncertain significance (Apr 23, 2024)3317222
1-86914090-G-C not specified Uncertain significance (Jun 10, 2022)3159500

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SELENOFprotein_codingprotein_codingENST00000331835 551976
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.05870.874123337031233400.0000122
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2947178.30.9070.000003891036
Missense in Polyphen1721.5170.79006307
Synonymous0.1833031.30.9580.00000160302
Loss of Function1.5437.560.3973.17e-7111

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006500.0000650
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001010.00000893
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in redox reactions associated with the formation of disulfide bonds. May contribute to the quality control of protein folding in the endoplasmic reticulum (By similarity). {ECO:0000250}.;
Pathway
Selenium Micronutrient Network (Consensus)

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.234
ghis
0.506

Mouse Genome Informatics

Gene name
Selenof
Phenotype
liver/biliary system phenotype; vision/eye phenotype; cellular phenotype;

Gene ontology

Biological process
'de novo' posttranslational protein folding
Cellular component
endoplasmic reticulum lumen
Molecular function
protein binding