FRY

FRY microtubule binding protein, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 13:31846712-32299125

Previous symbols: [ "C13orf14" ]

Links

ENSG00000073910 ∙ NCBI:10129 ∙ OMIM:614818 ∙ HGNC:20367 ∙ Uniprot:Q5TBA9 ∙ 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 FRY gene.

• not provided (65 variants)
• Inborn genetic diseases (59 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FRY 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				31	16	47
missense			57	10	2	69
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2	4	6
non coding				1	1	2
Total	0	0	57	42	19

Variants in FRY

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

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

Position	Type	Phenotype	Significance	ClinVar
13-32078841-C-T			Benign/Likely benign (Dec 01, 2023)
13-32078842-G-A			Likely benign (Jul 06, 2018)
13-32078867-C-T		not specified	Uncertain significance (Feb 23, 2023)
13-32078868-G-A			Likely benign (Jan 30, 2018)
13-32078927-A-G		not specified	Likely benign (Oct 25, 2023)
13-32078929-G-T		not specified	Uncertain significance (Dec 02, 2022)
13-32079008-T-C		not specified	Uncertain significance (May 25, 2022)
13-32101974-G-A			Likely benign (Aug 01, 2022)
13-32101976-C-T		not specified	Uncertain significance (Jan 03, 2024)
13-32117386-G-A		not specified	Uncertain significance (Jan 16, 2024)
13-32124611-C-T		not specified	Uncertain significance (Jun 07, 2023)
13-32124653-G-A		not specified	Uncertain significance (Jun 24, 2022)
13-32124809-A-G		not specified	Uncertain significance (Dec 09, 2023)
13-32131679-G-C		not specified	Uncertain significance (Dec 21, 2023)
13-32135099-A-G			Likely benign (Jul 11, 2018)
13-32147335-T-C			Likely benign (Jun 13, 2018)
13-32155568-G-A			Benign (Dec 31, 2019)
13-32161153-A-G			Benign (Dec 31, 2019)
13-32161218-T-C		not specified	Uncertain significance (May 26, 2022)
13-32171022-C-A		not specified	Uncertain significance (Oct 13, 2023)
13-32171030-T-C			Likely benign (Jun 15, 2018)
13-32171040-C-A			Benign (Dec 31, 2019)
13-32171086-C-T		not specified	Uncertain significance (Feb 21, 2024)
13-32171159-A-T			Benign (May 24, 2018)
13-32171259-A-G			Likely benign (Nov 24, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FRY	protein_coding	protein_coding	ENST00000380250	61	265358

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	3.88e-9	125223	0	61	125284	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.19	1150	1.63e+3	0.707	0.0000929	19826
Missense in Polyphen		295	547.25	0.53905		6813
Synonymous	-1.07	663	629	1.05	0.0000379	5830
Loss of Function	9.93	24	159	0.151	0.00000915	1840

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000252	0.000248
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000167	0.000165
Finnish	0.00	0.00
European (Non-Finnish)	0.000363	0.000361
Middle Eastern	0.000167	0.000165
South Asian	0.000327	0.000327
Other	0.000165	0.000164

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a crucial role in the structural integrity of mitotic centrosomes and in the maintenance of spindle bipolarity by promoting PLK1 activity at the spindle poles in early mitosis. May function as a scaffold promoting the interaction between AURKA and PLK1, thereby enhancing AURKA-mediated PLK1 phosphorylation. {ECO:0000269|PubMed:22753416}.

Intolerance Scores

• loftool: 0.401
• rvis_EVS: -2.66
• rvis_percentile_EVS: 0.75

Haploinsufficiency Scores

• pHI: 0.814
• hipred: Y
• hipred_score: 0.563
• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.754

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fry

Gene ontology

• Biological process: cell morphogenesis;neuron projection development;negative regulation of catalytic activity;negative regulation of tubulin deacetylation
• Cellular component: spindle pole;microtubule organizing center;cell cortex
• Molecular function: enzyme inhibitor activity