FBF1

Fas binding factor 1

Basic information

Region (hg38): 17:75909573-75941140

Links

ENSG00000188878 ∙ NCBI:85302 ∙ OMIM:616807 ∙ HGNC:24674 ∙ Uniprot:Q8TES7 ∙ 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 FBF1 gene.

• Inborn genetic diseases (19 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBF1 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				1		1
missense			15	4		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	5	0

Variants in FBF1

This is a list of pathogenic ClinVar variants found in the FBF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-75912280-C-T		not specified	Uncertain significance (Aug 19, 2021)
17-75914189-T-C		not specified	Uncertain significance (Jun 22, 2021)
17-75917949-G-A		not specified	Uncertain significance (Jun 11, 2021)
17-75917959-C-T			Likely benign (Jan 01, 2023)
17-75918019-G-C		not specified	Uncertain significance (Aug 10, 2021)
17-75919869-C-A		not specified	Uncertain significance (Jun 11, 2021)
17-75920086-G-A		not specified	Uncertain significance (Jun 22, 2021)
17-75920309-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-75920405-G-A		not specified	Uncertain significance (Sep 15, 2021)
17-75921249-C-T		not specified	Likely benign (Oct 14, 2021)
17-75921960-C-G		not specified	Uncertain significance (Nov 15, 2021)
17-75921996-C-T		not specified	Uncertain significance (Jun 22, 2021)
17-75923216-G-A		not specified	Likely benign (Sep 01, 2021)
17-75923222-T-C		not specified	Uncertain significance (Nov 15, 2021)
17-75923363-C-T		not specified	Uncertain significance (Nov 09, 2021)
17-75923496-C-G		not specified	Likely benign (Nov 09, 2021)
17-75923516-T-G		not specified	Uncertain significance (Jul 09, 2021)
17-75925428-C-G		not specified	Uncertain significance (Oct 26, 2021)
17-75928135-C-A		not specified	Uncertain significance (Aug 04, 2021)
17-75928187-C-G		not specified	Uncertain significance (Sep 16, 2021)
17-75930038-T-C		not specified	Likely benign (Oct 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FBF1	protein_coding	protein_coding	ENST00000319129	28	31567

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.74e-20	0.883	124555	0	116	124671	0.000465

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.06	604	682	0.886	0.0000447	7186
Missense in Polyphen		148	160.93	0.91963		1800
Synonymous	0.690	262	277	0.947	0.0000175	2292
Loss of Function	2.37	41	61.0	0.672	0.00000297	693

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00140	0.00135
Ashkenazi Jewish	0.0000998	0.0000994
East Asian	0.00129	0.00122
Finnish	0.0000932	0.0000928
European (Non-Finnish)	0.000472	0.000442
Middle Eastern	0.00129	0.00122
South Asian	0.000404	0.000392
Other	0.000174	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis. {ECO:0000269|PubMed:18838552, ECO:0000269|PubMed:23348840}.
• Pathway: Anchoring of the basal body to the plasma membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.992
• rvis_EVS: -0.69
• rvis_percentile_EVS: 14.84

Haploinsufficiency Scores

• pHI: 0.101
• hipred: N
• hipred_score: 0.123
• ghis: 0.530

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.569

Mouse Genome Informatics

• Gene name: Fbf1
• Phenotype: homeostasis/metabolism phenotype; skeleton phenotype; immune system phenotype; limbs/digits/tail phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: apical junction assembly;cilium assembly;establishment of epithelial cell polarity;ciliary basal body-plasma membrane docking
• Cellular component: spindle pole;centrosome;centriole;cytosol;apical junction complex;keratin filament;ciliary transition fiber
• Molecular function: protein binding