TECTB

tectorin beta, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 10:112283399-112305038

Links

ENSG00000119913 ∙ NCBI:6975 ∙ OMIM:602653 ∙ HGNC:11721 ∙ Uniprot:Q96PL2 ∙ 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 TECTB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TECTB 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				4	1	5
missense			25	1		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2		2
Total	0	0	25	7	1

Variants in TECTB

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

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

Position	Type	Phenotype	Significance	ClinVar
10-112283742-C-T		not specified	Likely benign (Nov 13, 2023)
10-112283744-A-G		not specified	Uncertain significance (Apr 08, 2024)
10-112283783-G-A		not specified	Uncertain significance (Sep 27, 2021)
10-112283790-C-G		not specified	Uncertain significance (Apr 22, 2022)
10-112283820-C-T		TECTB-related disorder	Likely benign (Apr 08, 2019)
10-112284525-C-T		TECTB-related disorder	Likely benign (Apr 01, 2019)
10-112284607-T-A		not specified	Uncertain significance (Sep 27, 2022)
10-112284624-G-A		not specified	Uncertain significance (May 09, 2023)
10-112284640-A-G		not specified	Uncertain significance (Mar 29, 2023)
10-112284664-A-T		not specified	Uncertain significance (Oct 20, 2021)
10-112284672-G-A		not specified	Uncertain significance (Oct 12, 2022)
10-112284696-A-C		not specified	Uncertain significance (Feb 26, 2024)
10-112286114-A-G		not specified	Uncertain significance (Jul 30, 2023)
10-112286353-G-C		not specified	Uncertain significance (Mar 07, 2024)
10-112286370-A-G		TECTB-related disorder	Likely benign (Aug 09, 2019)
10-112286371-C-T		TECTB-related disorder	Likely benign (Aug 09, 2019)
10-112293784-C-T		not specified	Uncertain significance (Jun 24, 2022)
10-112293787-C-T		not specified	Uncertain significance (Sep 15, 2021)
10-112293788-C-G		TECTB-related disorder	Benign (Jun 20, 2019)
10-112294001-G-A		not specified	Uncertain significance (Feb 12, 2024)
10-112294017-G-A		TECTB-related disorder	Likely benign (Jul 18, 2019)
10-112298077-C-A		not specified	Uncertain significance (Feb 06, 2023)
10-112298088-G-A		not specified	Uncertain significance (Mar 27, 2023)
10-112298116-A-C		not specified	Uncertain significance (May 16, 2023)
10-112298127-T-C		not specified	Uncertain significance (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TECTB	protein_coding	protein_coding	ENST00000369422	10	21301

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.77e-10	0.207	125666	0	82	125748	0.000326

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.121	192	187	1.02	0.0000104	2158
Missense in Polyphen		86	85.552	1.0052		1000
Synonymous	-0.834	87	77.7	1.12	0.00000497	611
Loss of Function	0.621	16	18.9	0.846	8.83e-7	229

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000855	0.000855
Ashkenazi Jewish	0.00	0.00
East Asian	0.00136	0.00120
Finnish	0.00	0.00
European (Non-Finnish)	0.0000884	0.0000879
Middle Eastern	0.00136	0.00120
South Asian	0.000751	0.000752
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. {ECO:0000250}.
• Pathway: Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.419
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.77

Haploinsufficiency Scores

• pHI: 0.306
• hipred: N
• hipred_score: 0.350
• ghis: 0.431

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.272

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tectb
• Phenotype: hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: tectb
• Affected structure: otolith
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Cellular component: extracellular region;plasma membrane;extracellular matrix;anchored component of membrane
• Molecular function: extracellular matrix structural constituent