FRY

protein-coding

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

Gene summary

Predicted to enable enzyme inhibitor activity. Predicted to be involved in cell morphogenesis and neuron projection development. Predicted to be located in centrosome; cytoplasm; and spindle pole. Predicted to be active in cell cortex and site of polarized growth. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C13orf14

MANE transcript

NM_023037.3

Inheritance

ClinVar variants

U:256B:92

Top phenotype

FRY-related condition

gnomAD constraint

pLI —, LoF o/e 0.15

Max pathogenic AF

—

Genomic locus

chr13:31,846,713-32,299,125

External References & Databases

Ensembl (ENSG00000073910)

Transcript & Mutation Effects

hg38 • Region Span ~452.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodevelopmental disorderMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0700092

Submitter: PanelApp Australia

neurodevelopmental disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0700092

Submitter: G2P

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FRY variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 289

not providedTotal: 71

FRY-related conditionTotal: 3

Intellectual disabilityTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_023037.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	61 clinvar	13 clinvar	78
missense			243 clinvar	17 clinvar	1 clinvar	261
nonsense			3 clinvar			3
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	256	78	14	348

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_023037.3	RefSeq	NP_075463.2	61	MANE Select
ENST00000542859.6	Ensembl	ENSP00000445043.2	61	MANE Select
NM_001411012.1	RefSeq	NP_001397941.1	62	Standard
ENST00000436046.1	Ensembl	ENSP00000398010.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell morphogenesis
neuron projection development
negative regulation of catalytic activity
negative regulation of tubulin deacetylation

Molecular Function

enzyme inhibitor activity

Cellular Component

spindle pole
microtubule organizing center
cell cortex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000380250
Coding exons: 61
Length: 265358
Individuals with no LoFs: 125223
Homozygous LoFs: 0
Heterozygous LoFs: 61
Defined: 125284
p: 0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	4.19	1150	1.63e+3	0.707	0.0000929	19826
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00019	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00017	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00036	0.00036	rare
South Asian	0.00033	0.00033	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.754

Gene Damage Prediction

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