ZBTB8OS

zinc finger and BTB domain containing 8 opposite strand, the group of tRNA splicing ligase complex

Basic information

Region (hg38): 1:32600171-32650903

Links

ENSG00000176261 ∙ NCBI:339487 ∙ OMIM:615891 ∙ HGNC:24094 ∙ Uniprot:Q8IWT0 ∙ 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 ZBTB8OS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB8OS 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			8			8
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	12	0	0

Variants in ZBTB8OS

This is a list of pathogenic ClinVar variants found in the ZBTB8OS region.

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

Position	Type	Phenotype	Significance	ClinVar
1-32600256-T-C		not specified	Uncertain significance (Apr 25, 2022)
1-32600307-A-G		not specified	Uncertain significance (Jan 31, 2022)
1-32600401-T-G		not specified	Uncertain significance (Mar 07, 2024)
1-32600409-A-G		not specified	Uncertain significance (Jan 08, 2024)
1-32621890-G-A		not specified	Uncertain significance (Sep 12, 2023)
1-32621909-C-T		not specified	Uncertain significance (Jan 30, 2024)
1-32627527-G-A		not specified	Uncertain significance (Sep 20, 2023)
1-32633679-T-C		not specified	Uncertain significance (Mar 01, 2024)
1-32633963-C-T		not specified	Uncertain significance (Jul 12, 2022)
1-32633975-G-C		not specified	Uncertain significance (Aug 16, 2022)
1-32633978-G-A		not specified	Uncertain significance (Mar 16, 2022)
1-32634037-A-G		not specified	Uncertain significance (Jun 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB8OS	protein_coding	protein_coding	ENST00000468695	7	50732

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.705	0.294	125740	0	7	125747	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.593	75	90.9	0.825	0.00000416	1179
Missense in Polyphen		21	30.041	0.69904		425
Synonymous	0.146	30	31.0	0.967	0.00000152	291
Loss of Function	2.78	2	12.7	0.157	6.19e-7	156

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000330	0.0000330
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000272	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000981	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the tRNA-splicing ligase complex required to facilitate the enzymatic turnover of catalytic subunit RTCB. Together with DDX1, acts by facilitating the guanylylation of RTCB, a key intermediate step in tRNA ligation. {ECO:0000269|PubMed:24870230}.
• Pathway: tRNA processing;Metabolism of RNA;tRNA processing in the nucleus (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.264
• rvis_EVS: 0.13
• rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

• pHI: 0.567
• hipred: Y
• hipred_score: 0.530
• ghis: 0.564

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.889

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb8os

Gene ontology

• Biological process: tRNA splicing, via endonucleolytic cleavage and ligation
• Cellular component: nucleoplasm;tRNA-splicing ligase complex
• Molecular function: protein binding;metal ion binding