FOLR3

folate receptor gamma

Basic information

Region (hg38): 11:72114869-72139892

Links

ENSG00000110203 ∙ NCBI:2352 ∙ OMIM:602469 ∙ HGNC:3795 ∙ Uniprot:P41439 ∙ 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 FOLR3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOLR3 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				7	7	14
missense			3	1	5	9
nonsense				1		1
start loss				1		1
frameshift					2	2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	10	14

Variants in FOLR3

This is a list of pathogenic ClinVar variants found in the FOLR3 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-72135924-CTCTGACTGTGGCTCTCTGGCAGGAATAGATGGACA-C		FOLR3-related disorder	Likely benign (May 08, 2019)
11-72135971-A-T		not specified	Uncertain significance (Feb 28, 2024)
11-72135992-G-T		not specified	Uncertain significance (Sep 29, 2023)
11-72136030-T-C			Benign (Dec 24, 2018)
11-72136034-C-A		FOLR3-related disorder	Benign (Nov 12, 2019)
11-72136044-C-T		not specified	Uncertain significance (Nov 14, 2023)
11-72136045-G-A		FOLR3-related disorder	Likely benign (Dec 28, 2021)
11-72136069-C-T		FOLR3-related disorder	Likely benign (Mar 25, 2019)
11-72136105-C-T		FOLR3-related disorder	Benign (Dec 31, 2019)
11-72138993-G-A		FOLR3-related disorder	Likely benign (Jan 09, 2020)
11-72138993-G-C		FOLR3-related disorder	Benign (Dec 03, 2019)
11-72139035-G-A		FOLR3-related disorder	Likely benign (Dec 02, 2019)
11-72139051-G-T		FOLR3-related disorder	Likely benign (Jul 14, 2020)
11-72139084-C-T		FOLR3-related disorder	Benign (May 01, 2019)
11-72139101-C-T		FOLR3-related disorder	Likely benign (Aug 23, 2020)
11-72139110-CTA-C			Benign (Dec 31, 2019)
11-72139110-C-CTA		FOLR3-related disorder	Benign (Feb 25, 2019)
11-72139114-G-C		FOLR3-related disorder	Benign (Apr 16, 2019)
11-72139116-G-C			Benign (May 21, 2018)
11-72139361-G-A		FOLR3-related disorder	Likely benign (Dec 06, 2023)
11-72139370-G-A		FOLR3-related disorder	Likely benign (Mar 30, 2020)
11-72139407-G-A		FOLR3-related disorder	Benign (Aug 13, 2019)
11-72139409-G-A			Benign (Dec 31, 2019)
11-72139676-C-T		FOLR3-related disorder	Benign (Nov 25, 2019)
11-72139687-G-A			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOLR3	protein_coding	protein_coding	ENST00000456237	4	25022

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0154	0.889	124824	0	376	125200	0.00150

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00495	176	176	1.00	0.0000102	1858
Missense in Polyphen		55	40.711	1.351		480
Synonymous	-0.674	73	66.0	1.11	0.00000401	572
Loss of Function	1.39	4	8.35	0.479	3.56e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00246	0.00245
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000936	0.0000926
European (Non-Finnish)	0.00241	0.00239
Middle Eastern	0.00	0.00
South Asian	0.000298	0.000294
Other	0.00233	0.00230

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Isoform Short does not bind folate.
• Pathway: Endocytosis - Homo sapiens (human);Folate Metabolism;Neutrophil degranulation;Innate Immune System;Immune System;Vitamin B9 (folate) metabolism (Consensus)

Recessive Scores

• pRec: 0.104

Haploinsufficiency Scores

• pHI: 0.0987
• hipred: N
• hipred_score: 0.139
• ghis: 0.423

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.156

Gene Damage Prediction

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

Gene ontology

• Biological process: cell adhesion;fusion of sperm to egg plasma membrane involved in single fertilization;folic acid transport;sperm-egg recognition;neutrophil degranulation
• Cellular component: extracellular region;membrane;extrinsic component of membrane;anchored component of external side of plasma membrane;specific granule lumen;tertiary granule lumen
• Molecular function: folic acid binding;signaling receptor activity