TMSB15B

thymosin beta 15B

Basic information

Region (hg38): X:103918895-103966712

Links

ENSG00000158427 ∙ NCBI:286527 ∙ OMIM:301011 ∙ HGNC:28612 ∙ Uniprot:P0CG35 ∙ 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 TMSB15B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMSB15B 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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in TMSB15B

This is a list of pathogenic ClinVar variants found in the TMSB15B region.

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

Position	Type	Phenotype	Significance	ClinVar
X-103964527-G-A		not specified	Uncertain significance (Dec 21, 2023)
X-103964545-C-T		not specified	Uncertain significance (Dec 14, 2023)
X-103964564-C-G		not specified	Uncertain significance (Mar 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMSB15B	protein_coding	protein_coding	ENST00000436583	2	56092

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.389	0.484	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.725	21	13.5	1.56	9.05e-7	290
Missense in Polyphen		6	4.1279	1.4535		102
Synonymous	1.25	2	5.85	0.342	4.47e-7	74
Loss of Function	0.909	0	0.963	0.00	6.04e-8	22

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: 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). May be involved in cell migration. {ECO:0000250, ECO:0000269|PubMed:19296525}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.215
• ghis: 0.472

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Mouse Genome Informatics

• Gene name: Tmsb15b2

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;actin filament organization;regulation of cell migration;positive regulation of cell migration;sequestering of actin monomers
• Cellular component: cellular_component;cytoplasm;cytoskeleton
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;actin monomer binding