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 (280 variants)
not_specified (198 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			12 clinvar	30 clinvar	13 clinvar	55
missense			166 clinvar	23 clinvar	22 clinvar	211
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	181	53	35

Loading clinvar variants...

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
3.59e-18	0.635	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

Haploinsufficiency Scores

pHI: 0.272
hipred: N
hipred_score: 0.222
ghis: 0.433

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

Mouse Genome Informatics

Gene name: Fmn1
Phenotype: skeleton phenotype; renal/urinary system phenotype; limbs/digits/tail phenotype; reproductive system 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); normal phenotype; pigmentation phenotype; cellular phenotype; 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);

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