FBLN7

fibulin 7, the group of Sushi domain containing|Fibulins

Basic information

Region (hg38): 2:112138385-112188218

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.

• not_specified (69 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. These statistics are base on transcript: NM_000153214.3. 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				3		3
missense			67	2		69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	5	0

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