TWF1

twinfilin actin binding protein 1

Basic information

Region (hg38): 12:43793723-43806328

Previous symbols: [ "PTK9" ]

Links

ENSG00000151239

∙ NCBI:5756 ∙ OMIM:610932 ∙ HGNC:9620 ∙ Uniprot:Q12792 ∙ 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 TWF1 gene.

not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TWF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002822.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			42 clinvar			42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TWF1	protein_coding	protein_coding	ENST00000548315	10	12653

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000209	0.978	125717	0	24	125741	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.919	147	182	0.808	0.00000878	2326
Missense in Polyphen		40	54.766	0.73038		681
Synonymous	0.778	54	61.8	0.874	0.00000275	647
Loss of Function	2.07	11	21.3	0.516	0.00000105	276

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000527	0.000526
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000936	0.0000924
European (Non-Finnish)	0.0000623	0.0000615
Middle Eastern	0.000163	0.000163
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity). {ECO:0000250}.;
Disease: DISEASE: Note=Defects in TWF1 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269|PubMed:28493397}.;

Recessive Scores

pRec: 0.181

Intolerance Scores

loftool: 0.496
rvis_EVS: 0.08
rvis_percentile_EVS: 60.09

Haploinsufficiency Scores

pHI: 0.391
hipred: N
hipred_score: 0.389
ghis: 0.565

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.311

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Twf1
Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; 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);

Gene ontology

Biological process: regulation of lamellipodium assembly;positive regulation of cardiac muscle hypertrophy;positive regulation of neuron projection development;peptidyl-tyrosine phosphorylation;actin filament depolymerization;negative regulation of actin filament polymerization;sequestering of actin monomers;regulation of actin phosphorylation;barbed-end actin filament capping
Cellular component: cytoplasm;cytosol;actin filament;cell-cell junction;focal adhesion;actin cytoskeleton;myofibril;filopodium;ruffle membrane;perinuclear region of cytoplasm
Molecular function: actin binding;actin monomer binding;protein tyrosine kinase activity;protein binding;ATP binding;phosphatidylinositol-4,5-bisphosphate binding;cadherin binding;actin filament binding