OLFM4
Basic information
Region (hg38): 13:53028813-53052057
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 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 | 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) | ||
13-53028900-T-G | not specified | Uncertain significance (Jun 06, 2023) | ||
13-53028906-G-C | not specified | Uncertain significance (Aug 08, 2022) | ||
13-53028957-G-C | not specified | Uncertain significance (Aug 26, 2022) | ||
13-53028967-C-T | not specified | Uncertain significance (Feb 05, 2024) | ||
13-53029009-G-A | not specified | Uncertain significance (May 15, 2024) | ||
13-53034366-G-A | not specified | Uncertain significance (Jan 03, 2024) | ||
13-53034435-A-G | not specified | Uncertain significance (Nov 12, 2021) | ||
13-53034445-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
13-53034463-A-G | not specified | Uncertain significance (Jul 02, 2024) | ||
13-53034475-A-G | not specified | Uncertain significance (Jun 22, 2021) | ||
13-53041952-C-G | not specified | Uncertain significance (Sep 09, 2024) | ||
13-53041991-G-C | not specified | Uncertain significance (Jun 28, 2024) | ||
13-53042006-A-G | not specified | Uncertain significance (Jan 26, 2023) | ||
13-53043118-C-T | not specified | Uncertain significance (Jun 17, 2024) | ||
13-53043156-A-C | not specified | Uncertain significance (Sep 14, 2021) | ||
13-53043250-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
13-53050073-T-C | not specified | Uncertain significance (Jan 23, 2023) | ||
13-53050074-C-T | not specified | Uncertain significance (Aug 10, 2021) | ||
13-53050106-G-C | not specified | Uncertain significance (May 07, 2024) | ||
13-53050181-T-C | not specified | Uncertain significance (Oct 08, 2024) | ||
13-53050229-A-G | not specified | Uncertain significance (Mar 29, 2022) | ||
13-53050263-T-C | not specified | Uncertain significance (Nov 08, 2024) | ||
13-53050353-G-A | not specified | Uncertain significance (Dec 14, 2023) | ||
13-53050482-T-C | not specified | Uncertain significance (Jan 03, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
OLFM4 | protein_coding | protein_coding | ENST00000219022 | 5 | 23299 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000278 | 0.774 | 122409 | 55 | 3284 | 125748 | 0.0134 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.342 | 264 | 280 | 0.942 | 0.0000150 | 3350 |
Missense in Polyphen | 79 | 92.166 | 0.85715 | 1157 | ||
Synonymous | -0.523 | 119 | 112 | 1.06 | 0.00000622 | 1009 |
Loss of Function | 1.26 | 11 | 16.5 | 0.665 | 8.53e-7 | 215 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00831 | 0.00831 |
Ashkenazi Jewish | 0.00517 | 0.00517 |
East Asian | 0.000440 | 0.000435 |
Finnish | 0.0577 | 0.0575 |
European (Non-Finnish) | 0.0151 | 0.0150 |
Middle Eastern | 0.000440 | 0.000435 |
South Asian | 0.00161 | 0.00160 |
Other | 0.0137 | 0.0138 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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