FOXI3

forkhead box I3, the group of Forkhead boxes

Basic information

Region (hg38): 2:88446787-88452693

Links

ENSG00000214336 ∙ NCBI:344167 ∙ OMIM:612351 ∙ HGNC:35123 ∙ Uniprot:A8MTJ6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• craniofacial microsomia 2 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Craniofacial microsomia 2	AD/AR	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic; Craniofacial	25655429; 36260083; 37041148

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FOXI3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOXI3 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			8	85	1	94
missense		1	158	6	1	166
nonsense			3			3
start loss						0
frameshift		1	13		1	15
inframe indel			27	2	1	30
splice donor/acceptor (+/-2bp)			1			1
splice region				1		1
non coding				3		3
Total	0	2	210	96	4

Variants in FOXI3

This is a list of pathogenic ClinVar variants found in the FOXI3 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-88448210-C-T			Likely benign (Aug 13, 2024)
2-88448213-C-T			Likely benign (May 12, 2024)
2-88448216-G-A			Likely benign (Aug 30, 2023)
2-88448225-TC-T			Uncertain significance (Sep 03, 2024)
2-88448226-C-T			Uncertain significance (Oct 23, 2024)
2-88448227-G-A		Craniofacial microsomia 1	Uncertain significance (Aug 22, 2023)
2-88448241-C-T			Uncertain significance (May 05, 2024)
2-88448246-C-T			Likely benign (Feb 17, 2024)
2-88448247-A-C			Uncertain significance (Jul 25, 2024)
2-88448251-T-C			Uncertain significance (Jun 18, 2021)
2-88448253-C-A			Uncertain significance (Sep 15, 2022)
2-88448259-T-C			Likely benign (Jan 30, 2025)
2-88448276-G-A			Likely benign (Dec 01, 2023)
2-88448276-G-T			Uncertain significance (Sep 15, 2022)
2-88448281-G-T		Inborn genetic diseases	Uncertain significance (Jan 18, 2025)
2-88448286-C-CT			Uncertain significance (Oct 01, 2022)
2-88448291-C-A			Likely benign (Jun 22, 2023)
2-88448291-C-T			Likely benign (Dec 02, 2024)
2-88448292-C-T			Uncertain significance (Sep 23, 2022)
2-88448295-C-T			Uncertain significance (Dec 12, 2024)
2-88448296-C-T			Uncertain significance (Jul 30, 2022)
2-88448297-G-A			Likely benign (Oct 04, 2022)
2-88448297-G-C			Uncertain significance (Jan 17, 2025)
2-88448304-C-T			Uncertain significance (Mar 19, 2022)
2-88448307-G-A			Uncertain significance (Oct 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possible transcriptional factor. {ECO:0000250}.
• Pathway: Hair Follicle Development- Induction (Part 1 of 3) (Consensus)

Mouse Genome Informatics

• Gene name: Foxi3
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; skeleton phenotype; embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); normal phenotype; craniofacial phenotype; cellular phenotype; growth/size/body region phenotype

Zebrafish Information Network

• Gene name: foxi3b
• Affected structure: epidermis
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

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