OLFM4

olfactomedin 4

Basic information

Region (hg38): 13:53028813-53052057

Links

ENSG00000102837NCBI:10562OMIM:614061HGNC:17190Uniprot:Q6UX06AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OLFM4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OLFM4 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
22
clinvar
1
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 22 1 0

Variants in OLFM4

This is a list of pathogenic ClinVar variants found in the OLFM4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
13-53028847-G-A not specified Uncertain significance (Oct 25, 2023)3204207
13-53028900-T-G not specified Uncertain significance (Jun 06, 2023)2508148
13-53028906-G-C not specified Uncertain significance (Aug 08, 2022)2306038
13-53028957-G-C not specified Uncertain significance (Aug 26, 2022)2383103
13-53028967-C-T not specified Uncertain significance (Feb 05, 2024)3204209
13-53029009-G-A not specified Uncertain significance (May 15, 2024)2368874
13-53034366-G-A not specified Uncertain significance (Jan 03, 2024)3204211
13-53034435-A-G not specified Uncertain significance (Nov 12, 2021)2345267
13-53034445-G-A not specified Uncertain significance (Sep 01, 2021)2342273
13-53034463-A-G not specified Uncertain significance (Jul 02, 2024)3409950
13-53034475-A-G not specified Uncertain significance (Jun 22, 2021)2234148
13-53041952-C-G not specified Uncertain significance (Sep 09, 2024)2362376
13-53041991-G-C not specified Uncertain significance (Jun 28, 2024)3409952
13-53042006-A-G not specified Uncertain significance (Jan 26, 2023)2470305
13-53043118-C-T not specified Uncertain significance (Jun 17, 2024)3302271
13-53043156-A-C not specified Uncertain significance (Sep 14, 2021)2370612
13-53043250-C-T not specified Uncertain significance (Sep 16, 2021)2250706
13-53050073-T-C not specified Uncertain significance (Jan 23, 2023)2470272
13-53050074-C-T not specified Uncertain significance (Aug 10, 2021)3204212
13-53050106-G-C not specified Uncertain significance (May 07, 2024)3302270
13-53050181-T-C not specified Uncertain significance (Oct 08, 2024)3409951
13-53050229-A-G not specified Uncertain significance (Mar 29, 2022)2280519
13-53050263-T-C not specified Uncertain significance (Nov 08, 2024)3409953
13-53050353-G-A not specified Uncertain significance (Dec 14, 2023)3204206
13-53050482-T-C not specified Uncertain significance (Jan 03, 2024)3204208

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OLFM4protein_codingprotein_codingENST00000219022 523299
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000002780.7741224095532841257480.0134
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3422642800.9420.00001503350
Missense in Polyphen7992.1660.857151157
Synonymous-0.5231191121.060.000006221009
Loss of Function1.261116.50.6658.53e-7215

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.008310.00831
Ashkenazi Jewish0.005170.00517
East Asian0.0004400.000435
Finnish0.05770.0575
European (Non-Finnish)0.01510.0150
Middle Eastern0.0004400.000435
South Asian0.001610.00160
Other0.01370.0138

dbNSFP

Source: dbNSFP

Function
FUNCTION: May promote proliferation of pancreatic cancer cells by favoring the transition from the S to G2/M phase. In myeloid leukemic cell lines, inhibits cell growth and induces cell differentiation and apoptosis. May play a role in the inhibition of EIF4EBP1 phosphorylation/deactivation. Facilitates cell adhesion, most probably through interaction with cell surface lectins and cadherin. {ECO:0000269|PubMed:16566923, ECO:0000269|PubMed:17270022, ECO:0000269|PubMed:20724538}.;
Pathway
Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec
0.104

Intolerance Scores

loftool
0.246
rvis_EVS
0.53
rvis_percentile_EVS
80.96

Haploinsufficiency Scores

pHI
0.312
hipred
N
hipred_score
0.146
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.262

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Olfm4
Phenotype
immune system phenotype; digestive/alimentary phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
cell adhesion;regulation of necrotic cell death;regulation of apoptotic process;neutrophil degranulation;regulation of phagocytosis;protein homooligomerization;positive regulation of substrate adhesion-dependent cell spreading;regulation of neutrophil extravasation
Cellular component
extracellular region;extracellular space;mitochondrion;plasma membrane;secretory granule;specific granule lumen;specific granule;azurophil granule;perinuclear region of cytoplasm;extracellular exosome;tertiary granule lumen
Molecular function
catalytic activity;protein binding;protein homodimerization activity;cadherin binding