FOS
Fos proto-oncogene, AP-1 transcription factor subunit, the group of Fos transcription factor family|Basic leucine zipper proteins
Basic information
Region (hg38): 14:75278825-75282230
Links
Phenotypes
GenCC
Source:
- Berardinelli-Seip congenital lipodystrophy (Supportive), mode of inheritance: AR
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (12 variants)
- Inborn genetic diseases (11 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOS 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 | 8 | |||||
| missense | 11 | 14 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 1 | 1 | ||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 11 | 8 | 3 |
Variants in FOS
This is a list of pathogenic ClinVar variants found in the FOS region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-75279024-C-A | Likely benign (Jul 31, 2018) | |||
| 14-75279924-G-A | Benign (Dec 31, 2019) | |||
| 14-75280028-T-C | not specified | Uncertain significance (Nov 30, 2022) | ||
| 14-75280078-A-G | not specified | Uncertain significance (Dec 03, 2021) | ||
| 14-75280088-G-T | not specified | Uncertain significance (Feb 14, 2023) | ||
| 14-75280097-A-G | not specified | Uncertain significance (Feb 16, 2023) | ||
| 14-75280102-A-G | Likely benign (Dec 31, 2019) | |||
| 14-75280562-A-G | Likely benign (Nov 14, 2017) | |||
| 14-75280579-A-C | not specified | Uncertain significance (Oct 27, 2023) | ||
| 14-75280643-G-A | Likely benign (Dec 19, 2018) | |||
| 14-75280647-C-T | Likely benign (Jun 13, 2018) | |||
| 14-75280809-G-C | Benign/Likely benign (Nov 01, 2022) | |||
| 14-75280889-C-T | not specified | Uncertain significance (Dec 01, 2022) | ||
| 14-75280963-C-G | not specified | Uncertain significance (Aug 03, 2022) | ||
| 14-75280978-C-G | Likely benign (Jul 01, 2022) | |||
| 14-75280980-G-A | Likely benign (Jul 01, 2022) | |||
| 14-75281029-A-G | not specified | Uncertain significance (Nov 15, 2021) | ||
| 14-75281033-C-T | not specified | Uncertain significance (Dec 07, 2023) | ||
| 14-75281079-C-T | Benign (Dec 31, 2019) | |||
| 14-75281140-C-T | not specified | Uncertain significance (Aug 16, 2021) | ||
| 14-75281141-G-A | not specified | Uncertain significance (May 04, 2023) | ||
| 14-75281193-G-A | Likely benign (Mar 28, 2018) | |||
| 14-75281248-C-A | not specified | Uncertain significance (Feb 28, 2023) | ||
| 14-75281262-G-A | Benign (Dec 31, 2019) | |||
| 14-75281308-T-G | not specified | Uncertain significance (Jul 13, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FOS | protein_coding | protein_coding | ENST00000303562 | 4 | 3457 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.262 | 0.733 | 125743 | 0 | 5 | 125748 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.08 | 170 | 215 | 0.792 | 0.0000112 | 2446 |
| Missense in Polyphen | 63 | 84.127 | 0.74887 | 923 | ||
| Synonymous | -0.0530 | 95 | 94.3 | 1.01 | 0.00000514 | 820 |
| Loss of Function | 2.41 | 3 | 12.0 | 0.249 | 6.06e-7 | 137 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000357 | 0.0000352 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Nuclear phosphoprotein which forms a tight but non- covalently linked complex with the JUN/AP-1 transcription factor. In the heterodimer, FOS and JUN/AP-1 basic regions each seems to interact with symmetrical DNA half sites. On TGF-beta activation, forms a multimeric SMAD3/SMAD4/JUN/FOS complex at the AP1/SMAD- binding site to regulate TGF-beta-mediated signaling. Has a critical function in regulating the development of cells destined to form and maintain the skeleton. It is thought to have an important role in signal transduction, cell proliferation and differentiation. In growing cells, activates phospholipid synthesis, possibly by activating CDS1 and PI4K2A. This activity requires Tyr-dephosphorylation and association with the endoplasmic reticulum. {ECO:0000269|PubMed:16055710, ECO:0000269|PubMed:17160021, ECO:0000269|PubMed:22105363, ECO:0000269|PubMed:7588633, ECO:0000269|PubMed:9732876}.;
- Pathway
- Relaxin signaling pathway - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Pertussis - Homo sapiens (human);Salmonella infection - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Dopaminergic synapse - Homo sapiens (human);Breast cancer - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);Th1 and Th2 cell differentiation - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Amphetamine addiction - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;Herpes simplex infection - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;EGF-Core;IL-5 Signaling Pathway;Regulation of toll-like receptor signaling pathway;Physiological and Pathological Hypertrophy of the Heart;Apoptosis Modulation and Signaling;RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway;Human Thyroid Stimulating Hormone (TSH) signaling pathway;Prolactin Signaling Pathway;Androgen Receptor Network in Prostate Cancer;Corticotropin-releasing hormone signaling pathway;Oncostatin M Signaling Pathway;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Spinal Cord Injury;Quercetin and Nf-kB- AP-1 Induced Cell Apoptosis;Integrated Lung Cancer Pathway;JAK-STAT;Structural Pathway of Interleukin 1 (IL-1);Selenium Metabolism and Selenoproteins;Hematopoietic Stem Cell Differentiation;IL-3 Signaling Pathway;Serotonin and anxiety;nerve growth factor pathway (ngf);Myometrial Relaxation and Contraction Pathways;Kit receptor signaling pathway;Signaling of Hepatocyte Growth Factor Receptor;Photodynamic therapy-induced AP-1 survival signaling.;Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling;TGF-beta Signaling Pathway;MAPK Signaling Pathway;T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection;IL-4 Signaling Pathway;ESC Pluripotency Pathways;Serotonin and anxiety-related events;PDGFR-beta pathway;Interleukin-4 and 13 signaling;Oxidative Stress;Endometrial cancer;Chromosomal and microsatellite instability in colorectal cancer;EGF-EGFR Signaling Pathway;Insulin Signaling;IL-2 Signaling Pathway;TGF-beta Receptor Signaling;T-Cell antigen Receptor (TCR) Signaling Pathway;Estrogen signaling pathway;Serotonin HTR1 Group and FOS Pathway;Toll-like Receptor Signaling Pathway;Toll Like Receptor 7/8 (TLR7/8) Cascade;Interleukin-17 signaling;Signal Transduction;Gene expression (Transcription);Signaling by Interleukins;inhibition of cellular proliferation by gleevec;pertussis toxin-insensitive ccr5 signaling in macrophage;oxidative stress induced gene expression via nrf2;repression of pain sensation by the transcriptional regulator dream;role of egf receptor transactivation by gpcrs in cardiac hypertrophy;tsp-1 induced apoptosis in microvascular endothelial cell;angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling;il-2 receptor beta chain in t cell activation;cadmium induces dna synthesis and proliferation in macrophages;signal transduction through il1r;mets affect on macrophage differentiation;t cell receptor signaling pathway;bcr signaling pathway;calcium signaling by hbx of hepatitis b virus;keratinocyte differentiation;toll-like receptor pathway;mapkinase signaling pathway;Generic Transcription Pathway;Prolactin;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;Alpha6Beta4Integrin;Oxidative Stress Induced Senescence;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 3 (TLR3) Cascade;Toll Like Receptor 5 (TLR5) Cascade;Toll-Like Receptors Cascades;Senescence-Associated Secretory Phenotype (SASP);Cellular Senescence;IL12 signaling mediated by STAT4;Cellular responses to stress;igf-1 signaling pathway;RNA Polymerase II Transcription;il 3 signaling pathway;FCERI mediated MAPK activation;Fc epsilon receptor (FCERI) signaling;Oncostatin_M;Innate Immune System;Immune System;ATF-2 transcription factor network;BCR;pdgf signaling pathway;Cellular responses to external stimuli;tpo signaling pathway;TGF_beta_Receptor;fc epsilon receptor i signaling in mast cells;EGFR1;Activation of the AP-1 family of transcription factors;MAPK targets/ Nuclear events mediated by MAP kinases;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;TP53 Regulates Transcription of DNA Repair Genes;Ras signaling in the CD4+ TCR pathway;Glucocorticoid receptor regulatory network;ErbB1 downstream signaling;MyD88 dependent cascade initiated on endosome;BCR signaling pathway;bone remodeling;FOXA1 transcription factor network;Signaling by Nuclear Receptors;IL2-mediated signaling events;Transcriptional Regulation by TP53;Estrogen-dependent gene expression;IL6;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;ESR-mediated signaling;ErbB2/ErbB3 signaling events;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;Osteopontin-mediated events;GMCSF-mediated signaling events;LPA receptor mediated events;Downstream signaling in naïve CD8+ T cells;Fc-epsilon receptor I signaling in mast cells;Calcineurin-regulated NFAT-dependent transcription in lymphocytes;Regulation of Telomerase;AP-1 transcription factor network;HIF-1-alpha transcription factor network;FOXM1 transcription factor network;Nongenotropic Androgen signaling;PDGFR-beta signaling pathway;Trk receptor signaling mediated by the MAPK pathway;Regulation of nuclear SMAD2/3 signaling;IL6-mediated signaling events;Endothelins;Presenilin action in Notch and Wnt signaling;FGF signaling pathway;PDGFR-alpha signaling pathway;IL12-mediated signaling events;Calcium signaling in the CD4+ TCR pathway;RhoA signaling pathway;S1P2 pathway;CD4 T cell receptor signaling-JNK cascade;CD4 T cell receptor signaling
(Consensus)
Recessive Scores
- pRec
- 0.967
Intolerance Scores
- loftool
- 0.255
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 50.01
Haploinsufficiency Scores
- pHI
- 0.954
- hipred
- Y
- hipred_score
- 0.833
- ghis
- 0.417
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fos
- Phenotype
- endocrine/exocrine gland phenotype; growth/size/body region 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); craniofacial phenotype; homeostasis/metabolism phenotype; immune system phenotype; cellular phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; neoplasm; hematopoietic system phenotype; reproductive system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); vision/eye phenotype; limbs/digits/tail phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype;
Gene ontology
- Biological process
- conditioned taste aversion;DNA methylation;regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;inflammatory response;transforming growth factor beta receptor signaling pathway;nervous system development;female pregnancy;aging;response to cold;response to light stimulus;response to gravity;response to toxic substance;cytokine-mediated signaling pathway;sleep;cellular response to extracellular stimulus;response to lipopolysaccharide;response to progesterone;cellular response to hormone stimulus;cellular response to reactive oxygen species;response to immobilization stress;skeletal muscle cell differentiation;response to muscle stretch;Fc-epsilon receptor signaling pathway;positive regulation of osteoclast differentiation;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;regulation of DNA-binding transcription factor activity;response to corticosterone;response to cAMP;SMAD protein signal transduction;cellular response to cadmium ion;cellular response to calcium ion;positive regulation of neuron death;positive regulation of pri-miRNA transcription by RNA polymerase II
- Cellular component
- nucleus;nucleoplasm;endoplasmic reticulum;cytosol;membrane;protein-DNA complex;transcription factor AP-1 complex;neuron projection
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;RNA polymerase II core promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;RNA polymerase II activating transcription factor binding;DNA-binding transcription activator activity, RNA polymerase II-specific;chromatin binding;DNA-binding transcription factor activity;protein binding;transcription factor binding;transcription regulatory region DNA binding;protein heterodimerization activity;R-SMAD binding