FOXL2NB

FOXL2 neighbor

Basic information

Region (hg38): 3:138947217-138953990

Previous symbols: [ "C3orf72" ]

Links

ENSG00000206262 ∙ NCBI:401089 ∙ ∙ HGNC:34428 ∙ Uniprot:Q6ZUU3 ∙ 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 FOXL2NB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOXL2NB 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						0
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in FOXL2NB

This is a list of pathogenic ClinVar variants found in the FOXL2NB region.

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

Position	Type	Phenotype	Significance	ClinVar
3-138947449-T-G		not specified	Uncertain significance (Oct 26, 2021)
3-138947456-G-C		not specified	Uncertain significance (Aug 02, 2021)
3-138949570-A-T		not specified	Uncertain significance (Apr 08, 2024)
3-138950337-A-G		not specified	Uncertain significance (Apr 01, 2024)
3-138950340-G-T		not specified	Uncertain significance (May 15, 2023)
3-138950345-G-A		not specified	Uncertain significance (Jan 12, 2024)
3-138950346-G-A		not specified	Uncertain significance (Aug 12, 2021)
3-138950365-C-A		not specified	Uncertain significance (Jan 08, 2024)
3-138950390-T-G		not specified	Uncertain significance (May 01, 2022)
3-138950396-G-A		not specified	Uncertain significance (May 30, 2023)
3-138950424-C-T		not specified	Uncertain significance (Apr 04, 2024)
3-138950448-C-T		not specified	Uncertain significance (Oct 26, 2021)
3-138950544-G-T		not specified	Uncertain significance (Dec 16, 2021)
3-138950555-C-T		not specified	Uncertain significance (Apr 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOXL2NB	protein_coding	protein_coding	ENST00000383165	3	6218

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000702	0.173	124704	0	1	124705	0.00000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.227	94	100	0.936	0.00000460	1071
Missense in Polyphen		39	35.383	1.1022		349
Synonymous	0.108	44	44.9	0.979	0.00000212	412
Loss of Function	-1.28	5	2.72	1.84	1.14e-7	36

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000556	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.68
• rvis_percentile_EVS: 84.81

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.285

Essentials

• essential_gene_gene_trap: N

Gene ontology

• Cellular component: fibrillar center