OSTF1

osteoclast stimulating factor 1, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 9:75088514-75147265

Links

ENSG00000134996NCBI:26578OMIM:610180HGNC:8510Uniprot:Q92882AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OSTF1 gene.

  • not_specified (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSTF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012383.5. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
22
clinvar
22
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 22 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OSTF1protein_codingprotein_codingENST00000346234 1058723
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.001660.9741257300151257450.0000596
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.431991120.8850.000005351399
Missense in Polyphen2240.510.54308542
Synonymous0.9833442.10.8070.00000223377
Loss of Function1.98715.40.4567.16e-7188

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00007210.0000721
Ashkenazi Jewish0.000.00
East Asian0.00005550.0000544
Finnish0.0001400.0000924
European (Non-Finnish)0.00008990.0000791
Middle Eastern0.00005550.0000544
South Asian0.00007050.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Induces bone resorption, acting probably through a signaling cascade which results in the secretion of factor(s) enhancing osteoclast formation and activity. {ECO:0000269|PubMed:10092216}.;
Pathway
Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec
0.215

Intolerance Scores

loftool
0.426
rvis_EVS
-0.27
rvis_percentile_EVS
33.97

Haploinsufficiency Scores

pHI
0.156
hipred
Y
hipred_score
0.595
ghis
0.631

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.883

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ostf1
Phenotype
skeleton phenotype;

Gene ontology

Biological process
ossification;signal transduction;neutrophil degranulation
Cellular component
extracellular region;secretory granule lumen;ficolin-1-rich granule lumen
Molecular function
protein binding;SH3 domain binding