FOXB2

forkhead box B2, the group of Forkhead boxes

Basic information

Region (hg38): 9:77019654-77020953

Links

ENSG00000204612 ∙ NCBI:442425 ∙ OMIM:619962 ∙ HGNC:23315 ∙ Uniprot:Q5VYV0 ∙ 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 FOXB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOXB2 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			27			27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	0	0

Variants in FOXB2

This is a list of pathogenic ClinVar variants found in the FOXB2 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-77019667-G-T		not specified	Uncertain significance (Feb 27, 2023)
9-77019683-G-T		not specified	Uncertain significance (Nov 09, 2021)
9-77019701-A-T		not specified	Uncertain significance (Jun 05, 2024)
9-77019722-C-T		not specified	Uncertain significance (Feb 14, 2023)
9-77019838-C-T		not specified	Uncertain significance (Apr 17, 2024)
9-77019862-T-G		not specified	Uncertain significance (Mar 11, 2022)
9-77019940-A-G		not specified	Uncertain significance (Jan 16, 2024)
9-77019942-G-T		not specified	Uncertain significance (Mar 26, 2024)
9-77019991-C-A		not specified	Uncertain significance (Aug 17, 2022)
9-77020135-C-A		not specified	Uncertain significance (May 13, 2024)
9-77020166-C-T		not specified	Uncertain significance (Jun 13, 2023)
9-77020294-C-T		not specified	Uncertain significance (Feb 26, 2024)
9-77020328-C-T		not specified	Uncertain significance (May 30, 2023)
9-77020336-G-C		not specified	Uncertain significance (Jan 16, 2024)
9-77020366-G-A		not specified	Uncertain significance (Aug 30, 2022)
9-77020438-T-A		not specified	Uncertain significance (Oct 05, 2021)
9-77020442-C-G		not specified	Uncertain significance (Jan 08, 2024)
9-77020464-T-G		not specified	Uncertain significance (Nov 01, 2022)
9-77020534-G-C		not specified	Uncertain significance (Sep 12, 2023)
9-77020537-A-G		not specified	Uncertain significance (Apr 07, 2023)
9-77020538-T-C		not specified	Uncertain significance (Nov 15, 2023)
9-77020569-G-T		not specified	Uncertain significance (Dec 15, 2023)
9-77020574-G-T		not specified	Uncertain significance (Feb 27, 2023)
9-77020591-G-T		not specified	Uncertain significance (Jun 02, 2024)
9-77020609-G-A		not specified	Uncertain significance (Jan 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOXB2	protein_coding	protein_coding	ENST00000376708	1	1299

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000675	0.507	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.302	229	242	0.945	0.0000111	2739
Missense in Polyphen		46	56.608	0.8126		694
Synonymous	-0.342	115	110	1.04	0.00000548	932
Loss of Function	0.493	7	8.55	0.818	3.66e-7	93

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor. {ECO:0000305}.

Recessive Scores

• pRec: 0.109

Haploinsufficiency Scores

• pHI: 0.578
• hipred: Y
• hipred_score: 0.526
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.423

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Foxb2

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;anatomical structure morphogenesis;cell differentiation
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;sequence-specific DNA binding