TERB1

telomere repeat binding bouquet formation protein 1, the group of Myb/SANT domain containing|Armadillo like helical domain containing

Basic information

Region (hg38): 16:66754640-66801620

Previous symbols: [ "CCDC79" ]

Links

ENSG00000249961 ∙ NCBI:283847 ∙ OMIM:617332 ∙ HGNC:26675 ∙ Uniprot:Q8NA31 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 60	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Endocrine; Genitourinary	32741963; 33211200

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TERB1 gene.

• Spermatogenic failure 60 (1 variants)
• Non-obstructive azoospermia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TERB1 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				2		2
missense			6			6
nonsense	1					1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	1	0	6	2	0

Variants in TERB1

This is a list of pathogenic ClinVar variants found in the TERB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-66755043-C-T		not specified	Uncertain significance (Jul 13, 2021)
16-66759258-G-A		Spermatogenic failure 60	Pathogenic (Dec 02, 2021)
16-66767452-A-G			Likely benign (Jun 01, 2022)
16-66767492-G-C		Non-obstructive azoospermia • Spermatogenic failure 60	Pathogenic (Aug 23, 2021)
16-66769981-T-C		not specified	Uncertain significance (Aug 12, 2021)
16-66770050-T-C		not specified	Uncertain significance (Aug 17, 2021)
16-66770209-C-T		not specified	Uncertain significance (Nov 02, 2021)
16-66770212-C-T		not specified	Uncertain significance (Aug 02, 2021)
16-66775231-T-C		not specified	Uncertain significance (Sep 21, 2021)
16-66778983-C-T		Azoospermia	Pathogenic (Dec 20, 2021)
16-66788278-CAA-C		Spermatogenic failure 60	Pathogenic (Dec 02, 2021)
16-66790982-T-C			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TERB1	protein_coding	protein_coding	ENST00000433154	17	46645

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.16e-7	0.998	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.79	228	318	0.718	0.0000156	4821
Missense in Polyphen		51	80.126	0.6365		1297
Synonymous	1.65	89	111	0.801	0.00000553	1279
Loss of Function	2.79	16	33.4	0.479	0.00000162	531

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1- TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment'. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity. {ECO:0000250|UniProtKB:Q8C0V1}.

Mouse Genome Informatics

• Gene name: Terb1
• Phenotype: reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; immune system phenotype; endocrine/exocrine gland phenotype; cellular phenotype

Gene ontology

• Biological process: synapsis;meiotic telomere clustering;meiotic attachment of telomere to nuclear envelope
• Cellular component: chromosome, telomeric region;nuclear chromosome, telomeric region;nuclear inner membrane;shelterin complex
• Molecular function: DNA binding