FLII

FLII actin remodeling protein, the group of Gelsolin/villins

Basic information

Region (hg38): 17:18244814-18258738

Links

ENSG00000177731 ∙ NCBI:2314 ∙ OMIM:600362 ∙ HGNC:3750 ∙ Uniprot:Q13045 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

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.

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.

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				18	5	23
missense		1	72	5	2	80
nonsense			1			1
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region				2	2	4
non coding				2	1	3
Total	0	1	73	26	8

Variants in FLII

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

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

Position	Type	Phenotype	Significance	ClinVar
17-18245155-A-G		not specified	Likely benign (Mar 28, 2022)
17-18245162-G-A			Likely benign (Aug 15, 2018)
17-18245176-A-G		High myopia	Uncertain significance (Dec 17, 2018)
17-18245230-G-A		Primary dilated cardiomyopathy • Cardiomyopathy, dilated, 2j	Likely pathogenic (May 06, 2021)
17-18245235-C-T		not specified	Likely benign (Jun 18, 2024)
17-18245236-G-A		not specified	Uncertain significance (Dec 12, 2022)
17-18245570-T-A			Benign (Dec 31, 2019)
17-18245648-C-G		not specified	Uncertain significance (Jun 07, 2023)
17-18245651-G-A			Likely benign (Feb 01, 2023)
17-18245745-G-A		Cardiomyopathy, dilated, 2j	Pathogenic (Nov 28, 2023)
17-18245779-G-A			Benign (Dec 31, 2019)
17-18245782-A-G			Likely benign (Jul 01, 2024)
17-18245799-C-A			Uncertain significance (Dec 01, 2023)
17-18245838-C-T		not specified	Uncertain significance (May 26, 2023)
17-18245994-G-A		not specified	Likely benign (Jul 01, 2024)
17-18246011-G-A		not specified	Uncertain significance (Dec 12, 2023)
17-18246051-C-G		not specified	Uncertain significance (Oct 21, 2021)
17-18246182-C-G		not specified	Uncertain significance (May 30, 2023)
17-18246193-A-C		not specified	Uncertain significance (Mar 29, 2022)
17-18246335-C-T		not specified	Uncertain significance (Dec 21, 2023)
17-18246336-G-A		not specified	Uncertain significance (Sep 26, 2022)
17-18246344-T-A		not specified	Uncertain significance (Feb 16, 2023)
17-18246363-C-T		not specified	Likely benign (Mar 08, 2024)
17-18246373-C-T			Likely benign (Aug 16, 2018)
17-18246396-T-C		not specified	Uncertain significance (Jan 23, 2024)

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