TES

testin LIM domain protein, the group of LIM domain containing

Basic information

Region (hg38): 7:116210506-116258783

Links

ENSG00000135269

∙ NCBI:26136 ∙ OMIM:606085 ∙ HGNC:14620 ∙ Uniprot:Q9UGI8 ∙ 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 TES gene.

not_specified (37 variants)
Hereditary_breast_ovarian_cancer_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TES gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015641.4. 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						0
missense			38 clinvar			38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TES	protein_coding	protein_coding	ENST00000358204	7	48291

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.02e-15	0.00532	125696	1	51	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.391	206	222	0.926	0.0000111	2816
Missense in Polyphen		71	95.486	0.74356		1147
Synonymous	0.459	74	79.2	0.934	0.00000434	716
Loss of Function	-0.356	22	20.3	1.09	0.00000101	272

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000459	0.000454
Ashkenazi Jewish	0.00	0.00
East Asian	0.000221	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000233	0.000220
Middle Eastern	0.000221	0.000217
South Asian	0.000394	0.000392
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Scaffold protein that may play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Plays a role in the regulation of cell proliferation. May act as a tumor suppressor. Inhibits tumor cell growth. {ECO:0000269|PubMed:11420696, ECO:0000269|PubMed:12571287, ECO:0000269|PubMed:12695497}.;

Recessive Scores

pRec: 0.208

Intolerance Scores

loftool: 0.302
rvis_EVS: -0.56
rvis_percentile_EVS: 19.54

Haploinsufficiency Scores

pHI: 0.244
hipred: Y
hipred_score: 0.575
ghis: 0.632

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.888

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Tes
Phenotype: digestive/alimentary phenotype; neoplasm; normal phenotype;

Gene ontology

Biological process: negative regulation of cell population proliferation
Cellular component: nucleus;cytosol;plasma membrane;focal adhesion;cell junction;protein-containing complex
Molecular function: RNA binding;protein binding;zinc ion binding;cadherin binding