TEKT5

tektin 5, the group of Tektins

Basic information

Region (hg38): 16:10627501-10694930

Links

ENSG00000153060 ∙ NCBI:146279 ∙ OMIM:618686 ∙ HGNC:26554 ∙ Uniprot:Q96M29 ∙ 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 TEKT5 gene.

• not_specified (113 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEKT5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000144674.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			108	4		112
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	108	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEKT5	protein_coding	protein_coding	ENST00000283025	7	67445

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.08e-20	0.000306	125651	0	96	125747	0.000382

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.95	409	312	1.31	0.0000207	3175
Missense in Polyphen		97	74.156	1.3081		727
Synonymous	-2.29	171	137	1.25	0.00000947	938
Loss of Function	-0.963	27	22.1	1.22	0.00000111	240

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000960	0.000958
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.000381	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000230	0.000229
Middle Eastern	0.000381	0.000381
South Asian	0.00122	0.00114
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a structural component of the sperm flagellum. {ECO:0000250|UniProtKB:G5E8A8}.

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.899
• rvis_EVS: 2.27
• rvis_percentile_EVS: 98.25

Haploinsufficiency Scores

• pHI: 0.119
• hipred: N
• hipred_score: 0.146
• ghis: 0.431

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.156

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tekt5

Gene ontology

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