FOSL1

FOS like 1, AP-1 transcription factor subunit, the group of Fos transcription factor family|Basic leucine zipper proteins

Basic information

Region (hg38): 11:65892049-65900573

Links

ENSG00000175592 ∙ NCBI:8061 ∙ OMIM:136515 ∙ HGNC:13718 ∙ Uniprot:P15407 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FOSL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOSL1 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					2	2
missense			13		1	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	3

Variants in FOSL1

This is a list of pathogenic ClinVar variants found in the FOSL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-65892906-G-C		not specified	Uncertain significance (Oct 18, 2021)
11-65892907-A-G			Benign (Jun 29, 2018)
11-65892995-G-A		not specified	Uncertain significance (Mar 25, 2024)
11-65893001-A-T		not specified	Uncertain significance (May 30, 2024)
11-65893019-G-T		not specified	Uncertain significance (Jan 23, 2024)
11-65893129-G-T			Benign (Dec 11, 2018)
11-65893177-C-T			Benign (Dec 31, 2019)
11-65893277-T-A		not specified	Uncertain significance (Nov 17, 2023)
11-65894093-C-A		not specified	Uncertain significance (Apr 04, 2023)
11-65896828-C-A		not specified	Uncertain significance (Oct 06, 2021)
11-65896879-G-T		not specified	Uncertain significance (Apr 28, 2022)
11-65896912-G-A		not specified	Uncertain significance (Jun 06, 2023)
11-65896921-C-A		not specified	Uncertain significance (Jun 06, 2023)
11-65896925-G-T		not specified	Uncertain significance (Jan 09, 2024)
11-65896937-G-A		not specified	Uncertain significance (Oct 10, 2023)
11-65896990-G-C		not specified	Uncertain significance (Aug 31, 2023)
11-65897005-T-C		not specified	Uncertain significance (May 27, 2022)
11-65900285-C-T		not specified	Uncertain significance (Apr 04, 2024)
11-65900309-T-C		not specified	Uncertain significance (Mar 30, 2024)
11-65900327-A-C		not specified	Uncertain significance (Jun 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOSL1	protein_coding	protein_coding	ENST00000312562	4	8525

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.158	0.827	125734	0	9	125743	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.395	142	156	0.911	0.00000959	1723
Missense in Polyphen		43	51.585	0.83358		546
Synonymous	1.01	48	57.8	0.830	0.00000298	583
Loss of Function	2.12	3	10.4	0.290	6.63e-7	108

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000548	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000530	0.0000527
Middle Eastern	0.0000548	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: HTLV-I infection - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Integrated Breast Cancer Pathway;Corticotropin-releasing hormone signaling pathway;Wnt Signaling Pathway and Pluripotency;Wnt Signaling Pathway;DNA Damage Response (only ATM dependent);bone remodeling;Validated targets of C-MYC transcriptional activation;Downstream signaling in naïve CD8+ T cells;Calcineurin-regulated NFAT-dependent transcription in lymphocytes;AP-1 transcription factor network;Validated transcriptional targets of AP1 family members Fra1 and Fra2;Calcium signaling in the CD4+ TCR pathway;CD4 T cell receptor signaling-JNK cascade;CD4 T cell receptor signaling (Consensus)

Recessive Scores

• pRec: 0.462

Intolerance Scores

• loftool: 0.654
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.22

Haploinsufficiency Scores

• pHI: 0.312
• hipred: Y
• hipred_score: 0.744
• ghis: 0.424

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• 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: Fosl1
• Phenotype: growth/size/body region phenotype; skeleton phenotype; embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system 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); normal phenotype

Gene ontology

• Biological process: in utero embryonic development;regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;chemotaxis;cellular defense response;vitellogenesis;female pregnancy;learning;positive regulation of cell population proliferation;negative regulation of cell population proliferation;response to mechanical stimulus;response to virus;response to gravity;cellular response to extracellular stimulus;response to progesterone;response to cytokine;response to hydrogen peroxide;positive regulation of apoptotic process;positive regulation of cell cycle;positive regulation of transcription by RNA polymerase II;positive regulation of DNA-binding transcription factor activity;response to corticosterone;response to cAMP;placenta blood vessel development;pri-miRNA transcription by RNA polymerase II;positive regulation of DNA-templated transcription, initiation
• Cellular component: nucleus;nucleoplasm;cytosol;presynaptic membrane;neuron projection
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding