FOXD4L5

forkhead box D4 like 5, the group of Forkhead boxes

Basic information

Region (hg38): 9:65282101-65285209

Links

ENSG00000204779 ∙ NCBI:653427 ∙ ∙ HGNC:18522 ∙ Uniprot:Q5VV16 ∙ 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 FOXD4L5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOXD4L5 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		2
missense			90	2		92
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	90	4	0

Variants in FOXD4L5

This is a list of pathogenic ClinVar variants found in the FOXD4L5 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-65283134-C-G		not specified	Uncertain significance (Nov 21, 2024)
9-65283137-C-G		not specified	Uncertain significance (Aug 02, 2021)
9-65283141-G-C		not specified	Uncertain significance (Mar 07, 2023)
9-65283173-C-T		not specified	Uncertain significance (Nov 25, 2024)
9-65283191-G-A		not specified	Likely benign (Sep 01, 2021)
9-65283191-G-C		not specified	Uncertain significance (Apr 12, 2022)
9-65283201-T-G		not specified	Uncertain significance (Oct 25, 2023)
9-65283208-G-C		not specified	Uncertain significance (Jan 16, 2024)
9-65283209-A-C		not specified	Uncertain significance (Jan 16, 2024)
9-65283211-G-C		not specified	Uncertain significance (Feb 28, 2024)
9-65283212-C-A		not specified	Uncertain significance (Jan 16, 2024)
9-65283218-C-G		not specified	Uncertain significance (Feb 07, 2025)
9-65283239-A-T		not specified	Uncertain significance (Oct 26, 2022)
9-65283257-C-A		not specified	Uncertain significance (Oct 10, 2023)
9-65283266-C-G		not specified	Uncertain significance (Nov 12, 2021)
9-65283266-C-T		not specified	Uncertain significance (Dec 11, 2024)
9-65283300-G-C		not specified	Uncertain significance (Mar 02, 2023)
9-65283327-C-G		not specified	Uncertain significance (Dec 16, 2024)
9-65283336-G-T		not specified	Uncertain significance (Jul 30, 2024)
9-65283338-C-A		not specified	Uncertain significance (Aug 10, 2021)
9-65283350-C-G		not specified	Uncertain significance (Apr 16, 2024)
9-65283380-C-T		not specified	Uncertain significance (Mar 20, 2024)
9-65283419-G-A		not specified	Uncertain significance (Jan 08, 2024)
9-65283482-C-A		not specified	Uncertain significance (Aug 13, 2021)
9-65283485-C-T		not specified	Uncertain significance (Dec 14, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOXD4L5	protein_coding	protein_coding	ENST00000377420	1	3109

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.282	63	57.0	1.11	0.00000344	2536
Missense in Polyphen		19	18.027	1.054		988
Synonymous	-1.07	35	27.8	1.26	0.00000184	881
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.407

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.161

Gene Damage Prediction

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

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