FMN1

formin 1, the group of Formins

Basic information

Region (hg38): 15:32765544-33194714

Previous symbols: [ "LD", "FMN" ]

Links

ENSG00000248905 ∙ NCBI:342184 ∙ OMIM:136535 ∙ HGNC:3768 ∙ Uniprot:Q68DA7 ∙ 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 FMN1 gene.

• not_provided (312 variants)
• not_specified (217 variants)
• FMN1-related_disorder (38 variants)
• Hereditary_breast_ovarian_cancer_syndrome (3 variants)
• Breast-ovarian_cancer,_familial,_susceptibility_to,_4 (2 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FMN1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001277313.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			21	33	13	67
missense			185	24	23	232
nonsense			2			2
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			4			4
Total	0	0	213	57	36

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FMN1	protein_coding	protein_coding	ENST00000334528	17	429151

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		124478	0	177	124655	0.000710

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.53	721	614	1.17	0.0000323	7769
Missense in Polyphen		111	138.21	0.80315		1867
Synonymous	-3.43	306	239	1.28	0.0000135	2316
Loss of Function	1.93	35	49.7	0.704	0.00000253	664

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00210	0.00209
Ashkenazi Jewish	0.000309	0.000298
East Asian	0.000955	0.000946
Finnish	0.000613	0.000603
European (Non-Finnish)	0.000609	0.000584
Middle Eastern	0.000955	0.000946
South Asian	0.000893	0.000883
Other	0.000331	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the formation of adherens junction and the polymerization of linear actin cables. {ECO:0000250}.
• Pathway: E-cadherin signaling in keratinocytes (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.991
• rvis_EVS: 0.86
• rvis_percentile_EVS: 88.64

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.670

Gene Damage Prediction

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

Gene ontology

• Biological process: gene expression;forelimb morphogenesis;hindlimb morphogenesis;actin nucleation;skeletal system morphogenesis;positive regulation of actin nucleation;positive regulation of focal adhesion assembly;ureteric bud invasion
• Cellular component: nucleus;cytoplasm;actin filament;plasma membrane;adherens junction
• Molecular function: actin binding;microtubule binding;SH3 domain binding