SELENOF

selenoprotein F, the group of Selenoproteins

Basic information

Region (hg38): 1:86862445-86914424

Links

ENSG00000183291 ∙ NCBI:9403 ∙ OMIM:606254 ∙ HGNC:17705 ∙ Uniprot:O60613 ∙ 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 SELENOF gene.

• not_specified (24 variants)

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. These statistics are base on transcript: NM_000004261.5. 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		2
missense			21	1		22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	21	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SELENOF	protein_coding	protein_coding	ENST00000331835	5	51976

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0587	0.874	123337	0	3	123340	0.0000122

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.294	71	78.3	0.907	0.00000389	1036
Missense in Polyphen		17	21.517	0.79006		307
Synonymous	0.183	30	31.3	0.958	0.00000160	302
Loss of Function	1.54	3	7.56	0.397	3.17e-7	111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000650	0.0000650
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000101	0.00000893
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

• 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