FBLN7

fibulin 7, the group of Sushi domain containing|Fibulins

Basic information

Region (hg38): 2:112138384-112188218

Links

ENSG00000144152 ∙ NCBI:129804 ∙ OMIM:611551 ∙ HGNC:26740 ∙ Uniprot:Q53RD9 ∙ 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 FBLN7 gene.

• Inborn genetic diseases (19 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBLN7 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			18	1		19
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	18	3	0

Variants in FBLN7

This is a list of pathogenic ClinVar variants found in the FBLN7 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-112138663-C-T		not specified	Uncertain significance (May 03, 2023)
2-112138690-T-C		not specified	Uncertain significance (Jul 12, 2023)
2-112159707-C-T		not specified	Uncertain significance (Jan 31, 2022)
2-112159761-G-A		not specified	Uncertain significance (Feb 13, 2024)
2-112159821-C-A		not specified	Uncertain significance (Nov 02, 2021)
2-112159829-C-T		not specified	Uncertain significance (Apr 07, 2022)
2-112165011-G-A			Likely benign (Oct 01, 2022)
2-112165106-T-A		not specified	Uncertain significance (Oct 25, 2023)
2-112175815-C-T		not specified	Uncertain significance (Oct 16, 2023)
2-112181744-C-G		not specified	Uncertain significance (Jan 02, 2024)
2-112181749-G-C		not specified	Uncertain significance (Mar 13, 2023)
2-112181781-G-T		not specified	Uncertain significance (Oct 04, 2022)
2-112181796-C-A		not specified	Uncertain significance (Nov 30, 2022)
2-112182792-C-T			Likely benign (Feb 01, 2023)
2-112182845-A-G		not specified	Uncertain significance (May 17, 2023)
2-112182847-G-A		not specified	Likely benign (Jul 05, 2023)
2-112182863-C-T		not specified	Uncertain significance (Apr 07, 2022)
2-112182881-C-T		not specified	Uncertain significance (Jan 12, 2024)
2-112182913-G-A		not specified	Uncertain significance (Dec 19, 2023)
2-112185228-C-T		not specified	Uncertain significance (Feb 06, 2023)
2-112185254-A-G		not specified	Uncertain significance (Dec 02, 2022)
2-112185264-G-A		not specified	Uncertain significance (Oct 20, 2023)
2-112185282-T-C		not specified	Uncertain significance (Jun 16, 2023)
2-112185299-G-A		not specified	Uncertain significance (Feb 15, 2023)
2-112185305-A-C		not specified	Uncertain significance (Dec 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBLN7	protein_coding	protein_coding	ENST00000331203	8	49830

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000842	0.928	125690	0	58	125748	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.15	225	279	0.807	0.0000183	2837
Missense in Polyphen		82	108.73	0.75419		1083
Synonymous	-0.724	129	119	1.08	0.00000831	901
Loss of Function	1.70	11	19.0	0.579	9.83e-7	207

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00116	0.00114
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000279	0.000272
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.000241	0.000237
Middle Eastern	0.000279	0.000272
South Asian	0.0000658	0.0000653
Other	0.000173	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation. {ECO:0000250}.

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.406
• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.63

Haploinsufficiency Scores

• pHI: 0.270
• hipred: N
• hipred_score: 0.400
• ghis: 0.551

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.182

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fbln7

Gene ontology

• Biological process: cell adhesion
• Cellular component: extracellular region;focal adhesion
• Molecular function: calcium ion binding;heparin binding