OGFOD1
Basic information
Region (hg38): 16:56451521-56479104
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 OGFOD1 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 | 1 | |||||
missense | 33 | 33 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 1 | |||||
Total | 0 | 0 | 34 | 0 | 1 |
Variants in OGFOD1
This is a list of pathogenic ClinVar variants found in the OGFOD1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-56451649-C-T | not specified | Uncertain significance (Oct 12, 2021) | ||
16-56451650-G-C | not specified | Uncertain significance (Dec 13, 2022) | ||
16-56451725-A-G | not specified | Uncertain significance (May 16, 2022) | ||
16-56451734-A-T | not specified | Uncertain significance (Sep 17, 2021) | ||
16-56453274-A-G | not specified | Uncertain significance (Sep 17, 2021) | ||
16-56453276-G-A | not specified | Uncertain significance (Sep 14, 2022) | ||
16-56453277-G-T | not specified | Uncertain significance (Oct 03, 2022) | ||
16-56453280-A-C | not specified | Uncertain significance (Apr 10, 2023) | ||
16-56453296-A-G | not specified | Uncertain significance (Dec 19, 2022) | ||
16-56453386-A-T | not specified | Uncertain significance (Dec 21, 2022) | ||
16-56458557-T-A | not specified | Uncertain significance (Aug 14, 2023) | ||
16-56462566-T-A | not specified | Uncertain significance (Jan 10, 2023) | ||
16-56462569-C-G | not specified | Uncertain significance (Mar 25, 2024) | ||
16-56466188-G-A | not specified | Uncertain significance (Jul 13, 2022) | ||
16-56466191-G-T | not specified | Uncertain significance (Nov 08, 2022) | ||
16-56466918-C-T | not specified | Uncertain significance (Jul 09, 2021) | ||
16-56466941-G-A | not specified | Uncertain significance (Nov 17, 2023) | ||
16-56466945-T-C | not specified | Uncertain significance (Aug 02, 2023) | ||
16-56467210-G-A | not specified | Uncertain significance (Oct 30, 2023) | ||
16-56467267-C-A | not specified | Uncertain significance (Aug 02, 2023) | ||
16-56467270-C-T | not specified | Uncertain significance (Jul 05, 2023) | ||
16-56467279-C-T | not specified | Uncertain significance (Dec 07, 2021) | ||
16-56467918-A-T | not specified | Uncertain significance (May 13, 2024) | ||
16-56467932-C-G | not specified | Uncertain significance (Apr 23, 2024) | ||
16-56467962-C-A | not specified | Uncertain significance (Dec 19, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
OGFOD1 | protein_coding | protein_coding | ENST00000566157 | 13 | 27611 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.31e-17 | 0.0186 | 125660 | 0 | 88 | 125748 | 0.000350 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.613 | 258 | 287 | 0.898 | 0.0000140 | 3631 |
Missense in Polyphen | 81 | 90.017 | 0.89983 | 1109 | ||
Synonymous | 0.851 | 93 | 104 | 0.894 | 0.00000496 | 941 |
Loss of Function | 0.475 | 27 | 29.8 | 0.906 | 0.00000143 | 368 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000800 | 0.000800 |
Ashkenazi Jewish | 0.0000993 | 0.0000992 |
East Asian | 0.000656 | 0.000653 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000282 | 0.000281 |
Middle Eastern | 0.000656 | 0.000653 |
South Asian | 0.000626 | 0.000621 |
Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of 'Pro-62' of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency. Involved in stress granule formation. {ECO:0000269|PubMed:20154146, ECO:0000269|PubMed:24550447, ECO:0000269|PubMed:24550462}.;
Recessive Scores
- pRec
- 0.0898
Intolerance Scores
- loftool
- 0.955
- rvis_EVS
- -0.75
- rvis_percentile_EVS
- 13.58
Haploinsufficiency Scores
- pHI
- 0.0525
- hipred
- N
- hipred_score
- 0.216
- ghis
- 0.598
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0959
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ogfod1
- Phenotype
- normal phenotype; limbs/digits/tail phenotype; homeostasis/metabolism phenotype; skeleton phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Gene ontology
- Biological process
- regulation of translational termination;cell population proliferation;protein hydroxylation;peptidyl-proline hydroxylation;stress granule assembly;oxidation-reduction process
- Cellular component
- nucleus;cytoplasm;cytosol;cytoplasmic stress granule
- Molecular function
- iron ion binding;L-ascorbic acid binding;peptidyl-proline dioxygenase activity;peptidyl-proline 3-dioxygenase activity