FMNL1

formin like 1, the group of Formins|Armadillo like helical domain containing

Basic information

Region (hg38): 17:45221444-45247319

Previous symbols: [ "C17orf1B", "FMNL" ]

Links

ENSG00000184922 ∙ NCBI:752 ∙ OMIM:604656 ∙ HGNC:1212 ∙ Uniprot:O95466 ∙ 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 FMNL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FMNL1 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				1		1
missense			87	3		90
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	87	4	0

Variants in FMNL1

This is a list of pathogenic ClinVar variants found in the FMNL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-45222176-C-T		not specified	Likely benign (Nov 30, 2021)
17-45222183-A-G		not specified	Uncertain significance (May 06, 2024)
17-45230656-A-G		not specified	Uncertain significance (Feb 27, 2024)
17-45230658-G-A		not specified	Uncertain significance (Aug 10, 2024)
17-45232473-A-C		not specified	Uncertain significance (Mar 12, 2024)
17-45232474-C-G		not specified	Uncertain significance (Aug 16, 2021)
17-45232479-G-T		not specified	Uncertain significance (Apr 25, 2022)
17-45233257-C-G		not specified	Uncertain significance (May 30, 2024)
17-45233668-A-G		not specified	Uncertain significance (Jan 24, 2025)
17-45233716-C-G		not specified	Uncertain significance (Mar 01, 2023)
17-45234091-G-A		not specified	Uncertain significance (Nov 06, 2024)
17-45234119-A-T		not specified	Uncertain significance (Oct 12, 2022)
17-45234175-C-T		not specified	Uncertain significance (Sep 29, 2023)
17-45234179-A-G		not specified	Uncertain significance (Sep 30, 2024)
17-45234184-C-T		not specified	Uncertain significance (Jun 19, 2024)
17-45236230-A-G		not specified	Uncertain significance (Jun 02, 2023)
17-45237592-C-T		not specified	Uncertain significance (Oct 08, 2024)
17-45237601-C-T		not specified	Uncertain significance (Mar 29, 2024)
17-45238561-C-T			Benign (Dec 31, 2019)
17-45238571-G-C		not specified	Uncertain significance (Aug 01, 2023)
17-45238577-A-C		not specified	Uncertain significance (May 23, 2023)
17-45238609-C-T		not specified	Uncertain significance (Jun 24, 2022)
17-45238634-T-A		not specified	Uncertain significance (Aug 17, 2022)
17-45239036-A-G		not specified	Uncertain significance (Dec 09, 2024)
17-45239052-A-G		not specified	Uncertain significance (Dec 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FMNL1	protein_coding	protein_coding	ENST00000331495	26	25877

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000148	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.00	407	616	0.660	0.0000388	7074
Missense in Polyphen		102	177.45	0.5748		1903
Synonymous	1.69	221	255	0.865	0.0000159	2225
Loss of Function	5.88	6	51.6	0.116	0.00000265	616

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	0.0000462	0.0000462
European (Non-Finnish)	0.0000882	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape. {ECO:0000250, ECO:0000269|PubMed:21834987}.
• Pathway: Signal Transduction;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.131

Intolerance Scores

• rvis_EVS: -1.06
• rvis_percentile_EVS: 7.48

Haploinsufficiency Scores

• pHI: 0.386
• hipred: Y
• hipred_score: 0.736
• ghis: 0.615

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.742

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fmnl1
• 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; liver/biliary system phenotype; immune system phenotype; cellular phenotype

Gene ontology

• Biological process: substrate-dependent cell migration;regulation of cell shape;cortical actin cytoskeleton organization;actin filament severing
• Cellular component: cytosol;plasma membrane;cell cortex;membrane;bleb;phagocytic vesicle;extracellular exosome
• Molecular function: molecular_function;protein binding;profilin binding;GTPase activating protein binding;Rac GTPase binding;actin filament binding