OLFM3

olfactomedin 3

Basic information

Region (hg38): 1:101802560-101996926

Links

ENSG00000118733NCBI:118427OMIM:607567HGNC:17990Uniprot:Q96PB7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OLFM3 gene.

  • not_specified (45 variants)
  • not_provided (2 variants)
  • Strabismus,_susceptibility_to (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OLFM3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000058170.4. 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
2
clinvar
2
missense
45
clinvar
45
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 45 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OLFM3protein_codingprotein_codingENST00000370103 6194457
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.001020.9971257330151257480.0000596
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.611742450.7100.00001203032
Missense in Polyphen79124.460.634741533
Synonymous-2.0511590.21.270.00000432844
Loss of Function2.68922.80.3940.00000128258

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002460.000246
Ashkenazi Jewish0.00009960.0000992
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.00007080.0000703
Middle Eastern0.00005440.0000544
South Asian0.00003280.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.122

Intolerance Scores

loftool
0.279
rvis_EVS
-0.76
rvis_percentile_EVS
13.33

Haploinsufficiency Scores

pHI
0.259
hipred
N
hipred_score
0.343
ghis
0.653

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.853

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Olfm3
Phenotype

Gene ontology

Biological process
eye photoreceptor cell development
Cellular component
extracellular space;Golgi apparatus;cell junction;AMPA glutamate receptor complex;synapse
Molecular function
protein binding