FOSB

FosB proto-oncogene, AP-1 transcription factor subunit, the group of Basic leucine zipper proteins|Fos transcription factor family

Basic information

Region (hg38): 19:45467994-45475179

Links

ENSG00000125740 ∙ NCBI:2354 ∙ OMIM:164772 ∙ HGNC:3797 ∙ Uniprot:P53539 ∙ 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 FOSB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOSB 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			17		1	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	18	2	1

Variants in FOSB

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

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

Position	Type	Phenotype	Significance	ClinVar
19-45468683-G-A			Benign (Aug 15, 2018)
19-45470638-G-T		not specified	Uncertain significance (Mar 01, 2023)
19-45470722-A-G		not specified	Uncertain significance (May 22, 2023)
19-45470786-A-C		not specified	Uncertain significance (Jun 18, 2021)
19-45470842-A-C		not specified	Uncertain significance (Mar 17, 2023)
19-45470873-C-T		not specified	Uncertain significance (Sep 01, 2021)
19-45470878-A-G		not specified	Uncertain significance (Oct 26, 2021)
19-45470881-G-A		not specified	Uncertain significance (Jan 04, 2024)
19-45470892-T-G		not specified	Uncertain significance (Aug 02, 2022)
19-45470896-C-T		not specified	Uncertain significance (Oct 03, 2022)
19-45470917-C-G		not specified	Uncertain significance (May 04, 2022)
19-45470918-G-A		not specified	Uncertain significance (Nov 18, 2022)
19-45471283-G-C			Likely benign (Jul 02, 2018)
19-45471287-G-A		not specified	Uncertain significance (Jun 21, 2022)
19-45471287-G-C		not specified	Uncertain significance (Jan 31, 2024)
19-45472655-G-A			Likely benign (Aug 02, 2018)
19-45472665-A-T		not specified	Uncertain significance (Jan 31, 2024)
19-45472704-G-A		not specified	Uncertain significance (Dec 14, 2021)
19-45472754-C-A		not specified	Uncertain significance (May 09, 2023)
19-45472800-A-G		not specified	Uncertain significance (Jul 08, 2022)
19-45472813-C-G		not specified	Uncertain significance (May 25, 2022)
19-45472815-C-T		not specified	Uncertain significance (Mar 19, 2024)
19-45472932-G-A		not specified	Uncertain significance (Apr 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOSB	protein_coding	protein_coding	ENST00000353609	4	7185

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.976	0.0245	125742	0	5	125747	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.55	149	213	0.700	0.0000133	2125
Missense in Polyphen		26	29.886	0.86996		265
Synonymous	0.639	93	101	0.919	0.00000717	746
Loss of Function	3.45	1	15.8	0.0632	0.00000112	132

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000300	0.0000300
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000482	0.0000462
European (Non-Finnish)	0.00000897	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: FosB interacts with Jun proteins enhancing their DNA binding activity.
• Pathway: IL-17 signaling pathway - Homo sapiens (human);Amphetamine addiction - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Alcoholism - Homo sapiens (human);Cocaine addiction - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Corticotropin-releasing hormone signaling pathway;Preimplantation Embryo;TGF-beta Signaling Pathway;EGF-EGFR Signaling Pathway;Signal Transduction;fosb gene expression and drug abuse;BCR;TGF_beta_Receptor;Signaling by Nuclear Receptors;Estrogen-dependent gene expression;ESR-mediated signaling;AP-1 transcription factor network;CD4 T cell receptor signaling-JNK cascade;CD4 T cell receptor signaling (Consensus)

Recessive Scores

• pRec: 0.430

Intolerance Scores

• loftool: 0.373
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.568
• hipred: Y
• hipred_score: 0.775
• ghis: 0.445

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.935

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fosb
• Phenotype: growth/size/body region 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;female pregnancy;response to mechanical stimulus;response to progesterone;cellular response to hormone stimulus;response to morphine;positive regulation of transcription by RNA polymerase II;response to corticosterone;response to cAMP;cellular response to calcium ion
• Cellular component: nucleus;nucleoplasm;intracellular membrane-bounded organelle
• 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 binding