TMSB4X
thymosin beta 4 X-linked
Basic information
Region (hg38): X:12975110-12977227
Previous symbols: [ "TMSB4" ]
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 TMSB4X 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 | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TMSB4X | protein_coding | protein_coding | ENST00000380636 | 2 | 2120 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.412 | 0.476 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.983 | 4 | 14.6 | 0.275 | 9.30e-7 | 284 |
| Missense in Polyphen | 0 | 1.6483 | 0 | 48 | ||
| Synonymous | -1.42 | 12 | 7.16 | 1.68 | 5.19e-7 | 72 |
| Loss of Function | 1.00 | 0 | 1.16 | 0.00 | 7.30e-8 | 25 |
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 | 0.00 | 0.00 |
| 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: Plays an important role in the organization of the cytoskeleton (By similarity). Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization. {ECO:0000250}.;
- Pathway
- Regulation of actin cytoskeleton - Homo sapiens (human);TarBasePathway;Regulation of Actin Cytoskeleton;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis
(Consensus)
Recessive Scores
- pRec
- 0.0334
Intolerance Scores
- loftool
- rvis_EVS
- 0.17
- rvis_percentile_EVS
- 65.04
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.461
- ghis
- 0.616
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.824
Mouse Genome Informatics
- Gene name
- Tmsb4x
- 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); 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); 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); homeostasis/metabolism phenotype; muscle phenotype;
Zebrafish Information Network
- Gene name
- tmsb4x
- Affected structure
- atrioventricular canal
- Phenotype tag
- abnormal
- Phenotype quality
- malformed
Gene ontology
- Biological process
- platelet degranulation;actin filament organization;cytoplasmic sequestering of NF-kappaB;regulation of cell migration;negative regulation of NF-kappaB transcription factor activity;tumor necrosis factor-mediated signaling pathway;sequestering of actin monomers;positive regulation of blood vessel endothelial cell migration;regulation of inflammatory response;regulation of NIK/NF-kappaB signaling;negative regulation of NIK/NF-kappaB signaling;negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding;positive regulation of proton-transporting ATP synthase activity, rotational mechanism;negative regulation of interleukin-8 secretion;positive regulation of endothelial cell chemotaxis;positive regulation of ATP biosynthetic process
- Cellular component
- extracellular region;nucleus;cytoplasm;cytosol;cytoskeleton;platelet alpha granule lumen
- Molecular function
- RNA binding;actin monomer binding;protein binding;enzyme binding