FMNL3

formin like 3, the group of Formins|Armadillo like helical domain containing

Basic information

Region (hg38): 12:49636499-49708165

Links

ENSG00000161791 ∙ NCBI:91010 ∙ OMIM:616288 ∙ HGNC:23698 ∙ Uniprot:Q8IVF7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 23.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_175736.5	NP_783863.4	26	yes	-
ENST00000335154.10	ENSP00000335655.5	26	yes	-
NM_198900.3	NP_944489.2	25	-	-
NM_001367835.1	NP_001354764.1	26	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FMNL3 gene.

• not_specified (129 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FMNL3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_175736.5. 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			2			2
missense			133	1		134
nonsense			2			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4			4
Total	0	0	141	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FMNL3	protein_coding	protein_coding	ENST00000335154	26	70225

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125315	0	35	125350	0.000140

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.20	449	601	0.747	0.0000372	6713
Missense in Polyphen		253	361.01	0.70082		4052
Synonymous	-0.635	245	233	1.05	0.0000129	2018
Loss of Function	5.30	12	54.1	0.222	0.00000289	625

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000254	0.000243
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.000222	0.000218
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000126	0.000123
Middle Eastern	0.000222	0.000218
South Asian	0.000197	0.000196
Other	0.000165	0.000164

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Required for developmental angiogenesis (By similarity). In this process, required for microtubule reorganization and for efficient endothelial cell elongation. In quiescent endothelial cells, triggers rearrangement of the actin cytoskeleton, but does not alter microtubule alignement. {ECO:0000250|UniProtKB:Q6NXC0, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:22275430}.
• Pathway: Signal Transduction;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.214
• rvis_EVS: -1.02
• rvis_percentile_EVS: 8.1

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.921

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: fmnl3
• Affected structure: dorsal longitudinal anastomotic vessel
• Phenotype tag: abnormal
• Phenotype quality: aplastic

Gene ontology

• Biological process: angiogenesis;cytoskeleton organization;regulation of cell shape;cell migration;actin cytoskeleton organization
• Cellular component: cytoplasm;Golgi apparatus;cytosol;plasma membrane;intracellular membrane-bounded organelle
• Molecular function: actin binding;Rho GTPase binding;GTPase activating protein binding