TES

testin LIM domain protein, the group of LIM domain containing

Basic information

Region (hg38): 7:116210505-116258783

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.

• Inborn genetic diseases (9 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.

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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in TES

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

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

Position	Type	Phenotype	Significance	ClinVar
7-116249042-T-C		not specified	Uncertain significance (May 25, 2023)
7-116249071-G-C		not specified	Uncertain significance (Mar 05, 2024)
7-116249171-C-T		not specified	Uncertain significance (Feb 17, 2022)
7-116249225-A-G		not specified	Uncertain significance (Oct 12, 2021)
7-116249252-C-T		not specified	Uncertain significance (Jan 29, 2024)
7-116250419-C-T		not specified	Uncertain significance (Aug 02, 2021)
7-116251805-A-G		not specified	Uncertain significance (Dec 28, 2023)
7-116251824-G-A		not specified	Uncertain significance (Dec 15, 2022)
7-116251915-G-C		not specified	Uncertain significance (Nov 30, 2022)
7-116252441-G-A		not specified	Uncertain significance (Aug 14, 2023)
7-116252459-G-A		not specified	Uncertain significance (Nov 23, 2021)
7-116257336-C-T		not specified	Uncertain significance (Feb 11, 2022)
7-116257346-A-G		not specified	Uncertain significance (Dec 06, 2023)
7-116257382-T-C		Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 01, 2020)

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