FBN3

fibrillin 3, the group of Fibrillins

Basic information

Region (hg38): 19:8065402-8149592

Links

ENSG00000142449 ∙ NCBI:84467 ∙ OMIM:608529 ∙ HGNC:18794 ∙ Uniprot:Q75N90 ∙ 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 FBN3 gene.

• not_provided (1085 variants)
• not_specified (493 variants)
• FBN3-related_disorder (144 variants)
• Flexion_contracture (2 variants)
• See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBN3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032447.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			9	226	49	284
missense			728	97	29	854
nonsense			17			17
start loss						0
frameshift			12			12
splice donor/acceptor (+/-2bp)			7	1		8
Total	0	0	773	324	78

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBN3	protein_coding	protein_coding	ENST00000600128	63	84445

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.44e-42	1.00	125369	0	379	125748	0.00151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.958	1653	1.77e+3	0.936	0.000117	18370
Missense in Polyphen		595	658.55	0.9035		7325
Synonymous	-0.0775	725	722	1.00	0.0000510	5387
Loss of Function	4.19	90	144	0.624	0.00000760	1585

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00541	0.00528
Ashkenazi Jewish	0.000310	0.000298
East Asian	0.00197	0.00190
Finnish	0.000617	0.000601
European (Non-Finnish)	0.00145	0.00142
Middle Eastern	0.00197	0.00190
South Asian	0.00165	0.00160
Other	0.00181	0.00179

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Fibrillin-3: Fibrillins are structural components of 10- 12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support. {ECO:0000269|PubMed:14962672}.
• Pathway: Hypothesized Pathways in Pathogenesis of Cardiovascular Disease;Extracellular matrix organization;Elastic fibre formation (Consensus)

Recessive Scores

• pRec: 0.135

Intolerance Scores

• loftool: 0.0141
• rvis_EVS: 7.07
• rvis_percentile_EVS: 99.89

Haploinsufficiency Scores

• pHI: 0.0992
• hipred: N
• hipred_score: 0.427
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.123

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Cellular component: extracellular matrix;collagen-containing extracellular matrix
• Molecular function: extracellular matrix structural constituent;calcium ion binding