TMSB10

thymosin beta 10

Basic information

Region (hg38): 2:84905656-84906671

Links

ENSG00000034510

∙ NCBI:9168 ∙ OMIM:188399 ∙ HGNC:11879 ∙ Uniprot:P63313 ∙ 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 TMSB10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMSB10 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			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in TMSB10

This is a list of pathogenic ClinVar variants found in the TMSB10 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-84906114-G-A		not specified	Uncertain significance (Dec 27, 2023)	3179995

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMSB10	protein_coding	protein_coding	ENST00000233143	2	1047

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0180	0.506	125688	0	2	125690	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.906	11	23.3	0.472	0.00000101	290
Missense in Polyphen		0	3.6288	0		60
Synonymous	0.124	9	9.48	0.949	4.25e-7	73
Loss of Function	-0.421	2	1.45	1.38	6.01e-8	22

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
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: Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.218

Intolerance Scores

loftool: 0.596
rvis_EVS: 0.15
rvis_percentile_EVS: 63.81

Haploinsufficiency Scores

pHI: 0.0999
hipred: N
hipred_score: 0.319
ghis: 0.508

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.501

Mouse Genome Informatics

Gene name: Tmsb10
Phenotype

Gene ontology

Biological process: actin filament organization;regulation of cell migration;sequestering of actin monomers
Cellular component: cytoplasm;cytoskeleton
Molecular function: actin monomer binding;protein binding