CFL1
cofilin 1
Basic information
Region (hg38): 11:65823022-65862026
Previous symbols: [ "CFL" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
| missense | 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) | ||
| 11-65849990-A-G | not specified | Uncertain significance (Apr 09, 2024) | ||
| 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) |
GnomAD
Source:
| 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:
- 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
- essential_gene_gene_trap
- 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