TWF2
Basic information
Region (hg38): 3:52228612-52246788
Previous symbols: [ "PTK9L" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (33 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TWF2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007284.4. 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 | 1 | |||||
| missense | 31 | 32 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 31 | 2 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TWF2 | protein_coding | protein_coding | ENST00000305533 | 9 | 10651 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.981 | 0.0195 | 125717 | 0 | 3 | 125720 | 0.0000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.08 | 182 | 228 | 0.799 | 0.0000150 | 2270 |
| Missense in Polyphen | 64 | 88.288 | 0.7249 | 930 | ||
| Synonymous | 0.722 | 89 | 98.1 | 0.907 | 0.00000687 | 680 |
| Loss of Function | 3.83 | 2 | 20.9 | 0.0959 | 0.00000116 | 214 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000178 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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. May play a role in regulating the mature length of the middle and short rows of stereocilia (By similarity). {ECO:0000250}.;
Intolerance Scores
- loftool
- 0.192
- rvis_EVS
- -0.8
- rvis_percentile_EVS
- 12.24
Haploinsufficiency Scores
- pHI
- hipred
- Y
- hipred_score
- 0.654
- ghis
- 0.573
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.764
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Twf2
- Phenotype
- normal phenotype;
Gene ontology
- Biological process
- regulation of lamellipodium assembly;positive regulation of lamellipodium assembly;positive regulation of neuron projection development;cell projection organization;actin filament depolymerization;negative regulation of actin filament polymerization;regulation of microvillus length;regulation of actin cytoskeleton organization;sequestering of actin monomers;positive regulation of axon extension;barbed-end actin filament capping;cellular response to retinoic acid;cellular response to growth factor stimulus
- Cellular component
- cytoplasm;actin filament;myofibril;lamellipodium;filopodium;growth cone;stereocilium;perinuclear region of cytoplasm;extracellular exosome
- Molecular function
- RNA binding;actin monomer binding;protein kinase C binding;protein binding;ATP binding;phosphatidylinositol-4,5-bisphosphate binding;cadherin binding;actin filament binding