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
craniofacial microsomia 2 (Strong), 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.

not_provided (342 variants)
Inborn_genetic_diseases (19 variants)
Craniofacial_microsomia_1 (8 variants)
Craniofacial_microsomia_2 (6 variants)
Craniofacial_microsomia (5 variants)
FOXI3-related_disorder (3 variants)

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. These statistics are base on transcript: NM_001135649.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	100 clinvar	1 clinvar	102
missense		8 clinvar	180 clinvar	7 clinvar	1 clinvar	196
nonsense			4 clinvar			4
start loss			1			1
frameshift		1 clinvar	20 clinvar		1 clinvar	22
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	9	207	107	3

Highest pathogenic variant AF is 0.000012888242

Loading clinvar variants...

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