SELENOF
Basic information
Region (hg38): 1:86862445-86914424
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 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) | ||
1-86863482-G-A | not specified | Uncertain significance (Jan 31, 2022) | ||
1-86863483-T-A | not specified | Uncertain significance (Nov 02, 2023) | ||
1-86863582-T-C | not specified | Likely benign (Jan 23, 2024) | ||
1-86868082-G-A | not specified | Uncertain significance (Feb 12, 2024) | ||
1-86868084-T-C | not specified | Uncertain significance (May 23, 2024) | ||
1-86903348-T-C | not specified | Uncertain significance (Sep 14, 2022) | ||
1-86903357-C-A | not specified | Uncertain significance (Jul 20, 2021) | ||
1-86903402-A-G | not specified | Uncertain significance (Dec 27, 2023) | ||
1-86914044-G-T | not specified | Uncertain significance (Apr 01, 2024) | ||
1-86914072-G-A | not specified | Uncertain significance (May 21, 2024) | ||
1-86914087-T-C | not specified | Likely benign (Jan 23, 2024) | ||
1-86914090-G-A | not specified | Uncertain significance (Apr 23, 2024) | ||
1-86914090-G-C | not specified | Uncertain significance (Jun 10, 2022) |
GnomAD
Source:
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:
- 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