OGFOD1

2-oxoglutarate and iron dependent oxygenase domain containing 1

Basic information

Region (hg38): 16:56451521-56479104

Links

ENSG00000087263NCBI:55239OMIM:615857HGNC:25585Uniprot:Q8N543AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OGFOD1 gene.

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
clinvar
1
missense
33
clinvar
33
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
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)2255293
16-56451650-G-C not specified Uncertain significance (Dec 13, 2022)2412005
16-56451725-A-G not specified Uncertain significance (May 16, 2022)2376320
16-56451734-A-T not specified Uncertain significance (Sep 17, 2021)3204107
16-56453274-A-G not specified Uncertain significance (Sep 17, 2021)3204110
16-56453276-G-A not specified Uncertain significance (Sep 14, 2022)2363195
16-56453277-G-T not specified Uncertain significance (Oct 03, 2022)2411258
16-56453280-A-C not specified Uncertain significance (Apr 10, 2023)2535749
16-56453296-A-G not specified Uncertain significance (Dec 19, 2022)2337040
16-56453386-A-T not specified Uncertain significance (Dec 21, 2022)2339054
16-56458557-T-A not specified Uncertain significance (Aug 14, 2023)2589921
16-56462566-T-A not specified Uncertain significance (Jan 10, 2023)2469268
16-56462569-C-G not specified Uncertain significance (Mar 25, 2024)3302208
16-56466188-G-A not specified Uncertain significance (Jul 13, 2022)2301558
16-56466191-G-T not specified Uncertain significance (Nov 08, 2022)2324228
16-56466918-C-T not specified Uncertain significance (Jul 09, 2021)2235507
16-56466941-G-A not specified Uncertain significance (Nov 17, 2023)3204112
16-56466945-T-C not specified Uncertain significance (Aug 02, 2023)2615100
16-56467210-G-A not specified Uncertain significance (Oct 30, 2023)3204113
16-56467267-C-A not specified Uncertain significance (Aug 02, 2023)2592807
16-56467270-C-T not specified Uncertain significance (Jul 05, 2023)2590010
16-56467279-C-T not specified Uncertain significance (Dec 07, 2021)2228432
16-56467918-A-T not specified Uncertain significance (May 13, 2024)3302210
16-56467932-C-G not specified Uncertain significance (Apr 23, 2024)3302209
16-56467962-C-A not specified Uncertain significance (Dec 19, 2022)2376394

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OGFOD1protein_codingprotein_codingENST00000566157 1327611
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.31e-170.01861256600881257480.000350
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6132582870.8980.00001403631
Missense in Polyphen8190.0170.899831109
Synonymous0.851931040.8940.00000496941
Loss of Function0.4752729.80.9060.00000143368

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008000.000800
Ashkenazi Jewish0.00009930.0000992
East Asian0.0006560.000653
Finnish0.000.00
European (Non-Finnish)0.0002820.000281
Middle Eastern0.0006560.000653
South Asian0.0006260.000621
Other0.0003270.000326

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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