FUZ

fuzzy planar cell polarity protein, the group of Ciliogenesis and planar polarity effector complex subunits

Basic information

Region (hg38): 19:49806866-49817376

Links

ENSG00000010361 ∙ NCBI:80199 ∙ OMIM:610622 ∙ HGNC:26219 ∙ Uniprot:Q9BT04 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neural tube defects, susceptibility to (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Neural tube defects, susceptibility to	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Musculoskeletal	21840926

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FUZ gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUZ 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				8	3	11
missense			24	1	3	28
nonsense						0
start loss						0
frameshift						0
inframe indel			1		1	2
splice donor/acceptor (+/-2bp)						0
splice region				2		2
non coding				1		1
Total	0	0	25	10	7

Variants in FUZ

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

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

Position	Type	Phenotype	Significance	ClinVar
19-49807152-CAAA-C			Uncertain significance (Sep 16, 2018)
19-49807170-G-T			Benign (Dec 31, 2019)
19-49807197-C-T		Neural tube defects, susceptibility to	risk factor (Nov 15, 2011)
19-49807209-G-A		FUZ-related disorder	Benign (Apr 15, 2019)
19-49807225-ACAG-A			Benign (Apr 25, 2018)
19-49807233-A-G		not specified	Uncertain significance (Jun 04, 2024)
19-49807272-C-T		not specified	Uncertain significance (Nov 17, 2023)
19-49807304-C-A		FUZ-related disorder	Likely benign (Aug 14, 2019)
19-49807312-A-G		not specified	Uncertain significance (Dec 07, 2023)
19-49807327-G-T		not specified	Uncertain significance (Jan 10, 2023)
19-49807348-C-A		Neural tube defects, susceptibility to	risk factor (Nov 15, 2011)
19-49807348-C-T			Likely benign (Jul 02, 2018)
19-49808445-A-G			Likely benign (Dec 31, 2019)
19-49808453-T-C		not specified	Uncertain significance (Feb 06, 2024)
19-49808486-G-C			Uncertain significance (Feb 08, 2023)
19-49808582-C-T		not specified	Uncertain significance (May 07, 2024)
19-49808586-A-G			Likely benign (Dec 31, 2019)
19-49808587-G-A			Benign (Dec 01, 2022)
19-49808632-C-T		FUZ-related disorder	Likely benign (Jan 13, 2020)
19-49808718-C-G		not specified	Uncertain significance (Mar 01, 2023)
19-49808720-A-T		not specified	Uncertain significance (Jan 31, 2024)
19-49808759-C-A		Jeune thoracic dystrophy	Conflicting classifications of pathogenicity (Jun 01, 2017)
19-49808759-C-CG			Uncertain significance (Sep 16, 2018)
19-49808783-C-T		not specified	Uncertain significance (Jun 01, 2023)
19-49808786-A-C		not specified	Uncertain significance (Oct 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUZ	protein_coding	protein_coding	ENST00000313777	11	10508

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000126	0.957	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.440	216	235	0.919	0.0000132	2588
Missense in Polyphen		127	132.8	0.95634		1488
Synonymous	0.908	97	109	0.889	0.00000580	944
Loss of Function	1.87	11	20.0	0.550	9.65e-7	222

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000128	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.000444	0.000435
Finnish	0.000185	0.000185
European (Non-Finnish)	0.0000735	0.0000703
Middle Eastern	0.000444	0.000435
South Asian	0.0000985	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity). {ECO:0000250|UniProtKB:Q3UYI6}.

Recessive Scores

• pRec: 0.249

Intolerance Scores

• loftool: 0.796
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.45

Haploinsufficiency Scores

• pHI: 0.363
• hipred: N
• hipred_score: 0.167
• ghis: 0.484

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.940

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fuz
• Phenotype: skeleton phenotype; vision/eye phenotype; hearing/vestibular/ear 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); limbs/digits/tail phenotype; digestive/alimentary phenotype; pigmentation phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype; embryo phenotype; cellular phenotype; homeostasis/metabolism phenotype; craniofacial phenotype; muscle phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype

Zebrafish Information Network

• Gene name: fuz
• Affected structure: pronephros
• Phenotype tag: abnormal
• Phenotype quality: cystic

Gene ontology

• Biological process: establishment of planar polarity;neural tube closure;hair follicle development;negative regulation of cell population proliferation;regulation of smoothened signaling pathway;embryonic body morphogenesis;protein transport;negative regulation of cell migration;positive regulation of cilium assembly;embryonic skeletal system morphogenesis;cilium assembly;negative regulation of canonical Wnt signaling pathway;negative regulation of neural crest formation;non-motile cilium assembly;negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation
• Cellular component: cytoplasm;cytoskeleton;cell projection;extracellular exosome
• Molecular function: protein binding