TMSB4Y

thymosin beta 4 Y-linked, the group of Minor histocompatibility antigens

Basic information

Region (hg38): Y:13703899-13706024

Links

ENSG00000154620

∙ NCBI:9087 ∙ OMIM:400017 ∙ HGNC:11882 ∙ Uniprot:O14604 ∙ 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 TMSB4Y gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMSB4Y 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: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMSB4Y	protein_coding	protein_coding	ENST00000284856	2	2458

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.319	0.499	63081	3	0	63084	0.0000238

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.503	8	4.88	1.64	8.08e-7	289
Missense in Polyphen		4	0.90923	4.3993		72
Synonymous	-0.850	2	0.948	2.11	3.41e-7	73
Loss of Function	0.551	0	0.354	0.00	4.70e-8	19

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)	0.000103	0.0000517
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}.;
Pathway: Regulation of actin cytoskeleton - Homo sapiens (human) (Consensus)

Haploinsufficiency Scores

pHI: 0.109
hipred: N
hipred_score: 0.474
ghis: 0.431

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.547

Gene ontology

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