TEKT4

tektin 4, the group of Tektins

Basic information

Region (hg38): 2:94871430-94876823

Links

ENSG00000163060 ∙ NCBI:150483 ∙ ∙ HGNC:31012 ∙ Uniprot:Q8WW24 ∙ 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 TEKT4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEKT4 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				1		1
missense			50	1		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	50	2	0

Variants in TEKT4

This is a list of pathogenic ClinVar variants found in the TEKT4 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-94871585-G-A			Likely benign (Jul 01, 2022)
2-94871635-G-A		not specified	Uncertain significance (Jun 01, 2023)
2-94871671-C-A		not specified	Uncertain significance (Mar 23, 2022)
2-94871706-G-A			Uncertain significance (Feb 01, 2023)
2-94871754-C-T		not specified	Uncertain significance (Mar 01, 2023)
2-94871757-G-A		not specified	Uncertain significance (Feb 17, 2024)
2-94871775-C-T		not specified	Uncertain significance (Feb 06, 2023)
2-94871789-G-T		not specified	Uncertain significance (Nov 08, 2022)
2-94871812-C-T		not specified	Uncertain significance (Oct 03, 2023)
2-94871842-C-T		not specified	Uncertain significance (Dec 15, 2022)
2-94871844-C-A		not specified	Uncertain significance (May 26, 2024)
2-94871854-G-A		not specified	Uncertain significance (Aug 17, 2022)
2-94871899-G-A			Likely benign (Jul 01, 2022)
2-94871907-G-C		not specified	Uncertain significance (Mar 20, 2023)
2-94871932-T-C		not specified	Uncertain significance (Jun 05, 2024)
2-94871946-A-G		not specified	Uncertain significance (Dec 12, 2023)
2-94871995-T-A		not specified	Uncertain significance (Jun 07, 2024)
2-94872028-G-A		not specified	Uncertain significance (Dec 14, 2023)
2-94872030-G-A		not specified	Uncertain significance (Dec 17, 2023)
2-94872032-G-C		not specified	Uncertain significance (Jul 12, 2022)
2-94872042-C-G		not specified	Uncertain significance (Apr 06, 2023)
2-94872048-C-T		not specified	Uncertain significance (Oct 27, 2022)
2-94872053-C-A		not specified	Uncertain significance (Dec 15, 2022)
2-94872057-G-A		not specified	Uncertain significance (Jun 26, 2023)
2-94872075-A-G		not specified	Uncertain significance (Feb 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEKT4	protein_coding	protein_coding	ENST00000295201	6	5397

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.23e-15	0.00721	125606	0	139	125745	0.000553

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.71	393	309	1.27	0.0000224	2774
Missense in Polyphen		115	96.534	1.1913		912
Synonymous	-3.32	180	132	1.37	0.00000953	857
Loss of Function	-0.335	21	19.4	1.08	0.00000104	188

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000792	0.000781
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.00150	0.00141
Finnish	0.000678	0.000647
European (Non-Finnish)	0.000649	0.000607
Middle Eastern	0.00150	0.00141
South Asian	0.0000327	0.0000327
Other	0.00117	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a structural component of the sperm flagellum. Contributes to normal sperm motility. {ECO:0000250|UniProtKB:Q149S1}.

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.877
• rvis_EVS: 1.27
• rvis_percentile_EVS: 93.63

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.180

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.877

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Tekt4
• Phenotype: cellular phenotype; reproductive system phenotype

Gene ontology

• Biological process: flagellated sperm motility;cilium assembly;cilium movement involved in cell motility
• Cellular component: nucleus;sperm flagellum
• Molecular function: protein binding