CFL1

cofilin 1

Basic information

Region (hg38): 11:65823021-65862026

Previous symbols: [ "CFL" ]

Links

ENSG00000172757 ∙ NCBI:1072 ∙ OMIM:601442 ∙ HGNC:1874 ∙ Uniprot:P23528 ∙ 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 CFL1 gene.

• Inborn genetic diseases (2 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFL1 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					1	1
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	1

Variants in CFL1

This is a list of pathogenic ClinVar variants found in the CFL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-65849545-G-C		not specified	Uncertain significance (Dec 18, 2023)
11-65849924-G-A		not specified	Uncertain significance (Dec 16, 2023)
11-65850001-G-A		not specified	Uncertain significance (Jan 26, 2022)
11-65850235-G-C		not specified	Uncertain significance (Sep 17, 2021)
11-65850240-G-A		not specified	Uncertain significance (Jul 06, 2022)
11-65850456-A-G		not specified	Uncertain significance (May 05, 2023)
11-65850466-T-C		not specified	Uncertain significance (Feb 15, 2023)
11-65850471-G-A		not specified	Uncertain significance (Dec 28, 2023)
11-65850501-C-T		not specified	Uncertain significance (May 25, 2022)
11-65850514-G-A		not specified	Likely benign (May 10, 2023)
11-65850761-G-A		not specified	Uncertain significance (Oct 03, 2023)
11-65850791-G-A		not specified	Uncertain significance (Jan 03, 2024)
11-65850836-C-T		not specified	Uncertain significance (May 17, 2023)
11-65850839-G-A		not specified	Uncertain significance (Nov 06, 2023)
11-65850842-T-C		not specified	Uncertain significance (Nov 14, 2023)
11-65850850-C-A		not specified	Uncertain significance (Feb 15, 2023)
11-65851086-C-T		not specified	Uncertain significance (Oct 25, 2022)
11-65851097-G-A		not specified	Uncertain significance (Nov 04, 2022)
11-65851110-G-A		not specified	Uncertain significance (Jan 09, 2024)
11-65851373-T-G		not specified	Uncertain significance (Jan 04, 2024)
11-65851392-C-A		not specified	Uncertain significance (Feb 06, 2023)
11-65851675-T-C		not specified	Uncertain significance (May 31, 2023)
11-65852471-G-A		not specified	Uncertain significance (Mar 04, 2024)
11-65852532-G-A		not specified	Uncertain significance (Aug 30, 2022)
11-65852642-C-T		not specified	Uncertain significance (Jan 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFL1	protein_coding	protein_coding	ENST00000525451	4	39005

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.556	0.433	105289	0	1	105290	0.00000475

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.80	21	99.6	0.211	0.00000603	1090
Missense in Polyphen		1	16.75	0.059702		263
Synonymous	-3.09	69	43.2	1.60	0.00000296	308
Loss of Function	2.03	1	6.63	0.151	2.79e-7	95

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000518	0.0000518
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity. Regulates actin cytoskeleton dynamics. Important for normal progress through mitosis and normal cytokinesis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required for the up-regulation of atypical chemokine receptor ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation (PubMed:11812157, PubMed:15580268, PubMed:21834987, PubMed:23633677). Required for neural tube morphogenesis and neural crest cell migration (By similarity). {ECO:0000250|UniProtKB:P18760, ECO:0000269|PubMed:11812157, ECO:0000269|PubMed:15580268, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:23633677}.
• Pathway: Fc gamma R-mediated phagocytosis - Homo sapiens (human);Pertussis - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Axon guidance - Homo sapiens (human);Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;VEGFA-VEGFR2 Signaling Pathway;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;EGF-EGFR Signaling Pathway;Regulation of Actin Cytoskeleton;G13 Signaling Pathway;Developmental Biology;Signal Transduction;ccr3 signaling in eosinophils;rho cell motility signaling pathway;rac1 cell motility signaling pathway;Fcgamma receptor (FCGR) dependent phagocytosis;EPH-Ephrin signaling;Innate Immune System;Immune System;EPHB-mediated forward signaling;RHO GTPases Activate ROCKs;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;RHO GTPase Effectors;Signaling by Rho GTPases;EGFR1;CXCR4-mediated signaling events;Sema3A PAK dependent Axon repulsion;Hemostasis;Semaphorin interactions;Regulation of actin dynamics for phagocytic cup formation;Axon guidance;RAC1 signaling pathway;CDC42 signaling events;RhoA signaling pathway (Consensus)

Recessive Scores

• pRec: 0.148

Intolerance Scores

• loftool: 0.123
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

• pHI: 0.327
• hipred: Y
• hipred_score: 0.658
• ghis: 0.674

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• gene_indispensability_pred: E
• gene_indispensability_score: 0.959

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cfl1
• Phenotype: vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); normal 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); homeostasis/metabolism phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: cfl1
• Affected structure: mesonephric podocyte
• Phenotype tag: abnormal
• Phenotype quality: structure

Gene ontology

• Biological process: mitotic cytokinesis;neural crest cell migration;neural fold formation;protein phosphorylation;cytoskeleton organization;Rho protein signal transduction;response to virus;regulation of cell morphogenesis;establishment of cell polarity;actin cytoskeleton organization;actin filament depolymerization;actin filament fragmentation;positive regulation of actin filament depolymerization;interleukin-12-mediated signaling pathway;negative regulation of apoptotic process;response to amino acid;positive regulation by host of viral process;regulation of dendritic spine morphogenesis
• Cellular component: extracellular space;nucleus;cytoplasm;cytosol;cell-cell junction;focal adhesion;membrane;nuclear matrix;lamellipodium;cortical actin cytoskeleton;lamellipodium membrane;vesicle;ruffle membrane;extracellular exosome
• Molecular function: signaling receptor binding;protein binding;actin filament binding