FLII

FLII actin remodeling protein, the group of Gelsolin/villins

Basic information

Region (hg38): 17:18244815-18258738

Links

ENSG00000177731

∙ NCBI:2314 ∙ OMIM:600362 ∙ HGNC:3750 ∙ Uniprot:Q13045 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

cardiomyopathy, dilated, 2j (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cardiomyopathy, dilated, 2J	AR	Cardiovascular	Individuals can manifest with severe and early-onset cardiomyopathy, and awareness can allow early diagnosis and management	Cardiovascular	32870709; 37561591

ClinVar

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

not_specified (185 variants)
not_provided (43 variants)
Cardiomyopathy,_dilated,_2j (4 variants)
High_myopia (1 variants)
Marfan_syndrome (1 variants)
Primary_dilated_cardiomyopathy (1 variants)
Flexion_contracture (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLII gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002018.4. 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				21 clinvar	5 clinvar	26
missense	1 clinvar	1 clinvar	182 clinvar	7 clinvar	2 clinvar	193
nonsense	1 clinvar		1 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	2	1	183	28	7

Highest pathogenic variant AF is 0.000027269436

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FLII	protein_coding	protein_coding	ENST00000327031	30	14081

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.53e-12	1.00	125633	0	115	125748	0.000457

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.507	753	793	0.949	0.0000527	8321
Missense in Polyphen		242	280.75	0.86199		2922
Synonymous	-1.97	379	333	1.14	0.0000224	2439
Loss of Function	4.23	31	68.9	0.450	0.00000352	757

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000679	0.000679
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000331	0.000325
Middle Eastern	0.0000544	0.0000544
South Asian	0.00167	0.00167
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

Function: FUNCTION: May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling. Involved in early embryonic development (By similarity). May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and cell migration, by inhibiting Rac1-dependent paxillin phosphorylation. {ECO:0000250, ECO:0000269|PubMed:14966289}.;

Recessive Scores

pRec: 0.234

Intolerance Scores

loftool: 0.779
rvis_EVS: -2.94
rvis_percentile_EVS: 0.55

Haploinsufficiency Scores

pHI: 0.323
hipred: Y
hipred_score: 0.648
ghis: 0.618

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: S
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.787

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Flii
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); embryo phenotype; homeostasis/metabolism phenotype;

Zebrafish Information Network

Gene name: flii
Affected structure: fast muscle cell
Phenotype tag: abnormal
Phenotype quality: disorganized

Gene ontology

Biological process: multicellular organism development;actin cytoskeleton organization;actin filament severing
Cellular component: nucleoplasm;microtubule organizing center;cytosol;brush border;focal adhesion
Molecular function: actin binding;protein binding;actin filament binding