FRY

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

Basic information

Region (hg38): 13:31846713-32299125

Previous symbols: [ "C13orf14" ]

Links

ENSG00000073910 ∙ NCBI:10129 ∙ OMIM:614818 ∙ HGNC:20367 ∙ Uniprot:Q5TBA9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder (Limited), mode of inheritance: AR

ClinVar

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

• not_specified (209 variants)
• not_provided (66 variants)
• FRY-related_condition (3 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. These statistics are base on transcript: NM_000023037.3. 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				37	15	52
missense			198	17	1	216
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	198	54	16

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