FOXK1

forkhead box K1, the group of Forkhead boxes

Basic information

Region (hg38): 7:4682295-4771442

Links

ENSG00000164916 ∙ NCBI:221937 ∙ OMIM:616302 ∙ HGNC:23480 ∙ Uniprot:P85037 ∙ 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 FOXK1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOXK1 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				2	4	6
missense			48	1	1	50
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	48	3	6

Variants in FOXK1

This is a list of pathogenic ClinVar variants found in the FOXK1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-4682432-G-A		not specified	Uncertain significance (Nov 26, 2024)
7-4682435-C-T		not specified	Uncertain significance (Jul 26, 2024)
7-4682438-G-A		not specified	Uncertain significance (Jul 27, 2024)
7-4682463-C-T		not specified	Uncertain significance (Apr 06, 2024)
7-4682470-G-A			Likely benign (Sep 01, 2024)
7-4682510-G-A		not specified	Conflicting classifications of pathogenicity (Mar 24, 2023)
7-4682534-G-C		not specified	Uncertain significance (Oct 14, 2021)
7-4682577-T-G		not specified	Uncertain significance (Oct 13, 2021)
7-4682628-C-T		not specified	Uncertain significance (Aug 08, 2023)
7-4682733-G-A		not specified	Uncertain significance (Jan 17, 2024)
7-4682738-A-G		not specified	Uncertain significance (Oct 03, 2022)
7-4682790-G-A		not specified	Uncertain significance (Jul 27, 2022)
7-4740902-G-A		not specified	Uncertain significance (Jul 27, 2022)
7-4740903-A-G		not specified	Uncertain significance (Mar 06, 2023)
7-4740924-G-A		not specified	Uncertain significance (Mar 04, 2024)
7-4740929-C-G		not specified	Uncertain significance (Aug 15, 2024)
7-4740966-C-T		not specified	Uncertain significance (Jan 10, 2022)
7-4740981-G-A		not specified	Uncertain significance (Dec 06, 2022)
7-4740988-G-A		not specified	Uncertain significance (Jan 30, 2024)
7-4754571-G-A		not specified	Uncertain significance (Feb 17, 2024)
7-4754593-C-T		not specified	Uncertain significance (Aug 20, 2024)
7-4755263-C-T			Likely benign (Oct 01, 2022)
7-4755294-G-A		not specified	Uncertain significance (Dec 31, 2023)
7-4755333-C-T		not specified	Uncertain significance (Dec 28, 2022)
7-4755368-C-T			Benign (Jun 18, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOXK1	protein_coding	protein_coding	ENST00000328914	9	127687

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.805	0.195	125726	0	4	125730	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.49	288	434	0.663	0.0000294	4548
Missense in Polyphen		54	130.89	0.41256		1225
Synonymous	-0.388	216	209	1.03	0.0000166	1667
Loss of Function	3.67	4	23.0	0.174	0.00000107	257

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000291	0.0000291
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000510	0.0000462
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional regulator that binds to the upstream enhancer region (CCAC box) of myoglobin gene (By similarity). Important regulatory factor of the myogenic progenitor cell population (By similarity). Involved in the cell cycle process, promotes proliferation by repressing Foxo4 transcriptional activity and the cyclin-dependent kinase inhibitor, p21CIP, in the myogenic progenitor cells (By similarity). Represses myogenic differentiation by inhibiting MEFC acitivity (By similarity). Has a role in remodeling processes of adult muscles that occur in response to physiological stimuli (By similarity). Required to correct temporal orchestration of molecular and cellular events necessary for muscle repair (By similarity). Positively regulates Wnt/beta-catenin signaling by translocating DVL into the nucleus (PubMed:25805136). Reduces virus replication, probably by binding the interferon stimulated response element (ISRE) to promote antiviral gene expression (PubMed:25852164). {ECO:0000250|UniProtKB:P42128, ECO:0000269|PubMed:25805136, ECO:0000269|PubMed:25852164}.
• Pathway: Post-translational protein modification;Metabolism of proteins;UCH proteinases;Deubiquitination (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.00379
• rvis_EVS: -1.11
• rvis_percentile_EVS: 6.83

Haploinsufficiency Scores

• pHI: 0.156
• hipred: Y
• hipred_score: 0.609
• ghis: 0.648

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.899

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Foxk1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); muscle phenotype; cellular phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;muscle organ development;protein deubiquitination;cell differentiation;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm;cytoplasm
• Molecular function: transcription regulatory region sequence-specific DNA binding;RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;protein binding