ZBTB26

zinc finger and BTB domain containing 26, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 9:122915566-122931512

Previous symbols: [ "ZNF481" ]

Links

ENSG00000171448 ∙ NCBI:57684 ∙ OMIM:620164 ∙ HGNC:23383 ∙ Uniprot:Q9HCK0 ∙ 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 ZBTB26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB26 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						0
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in ZBTB26

This is a list of pathogenic ClinVar variants found in the ZBTB26 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-122918709-T-A		not specified	Uncertain significance (Dec 21, 2023)
9-122919088-G-A		not specified	Uncertain significance (Jun 06, 2023)
9-122919166-C-A		not specified	Uncertain significance (Aug 23, 2021)
9-122919309-G-A		not specified	Uncertain significance (Sep 22, 2023)
9-122919310-T-C		not specified	Uncertain significance (May 30, 2024)
9-122919392-C-A		not specified	Uncertain significance (Jan 23, 2024)
9-122919582-C-T		not specified	Uncertain significance (May 31, 2023)
9-122919717-G-A		not specified	Uncertain significance (Sep 21, 2021)
9-122919753-T-C		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB26	protein_coding	protein_coding	ENST00000373656	1	15935

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.138	0.858	125723	0	22	125745	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.48	123	229	0.538	0.0000109	2970
Missense in Polyphen		17	54.565	0.31155		739
Synonymous	0.358	79	83.1	0.950	0.00000406	798
Loss of Function	2.52	4	14.3	0.280	7.39e-7	179

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000370	0.000370
European (Non-Finnish)	0.0000879	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.415
• hipred: Y
• hipred_score: 0.546
• ghis: 0.623

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.341

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb26

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;biological_process
• Cellular component: cellular_component;nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;DNA binding;protein binding;identical protein binding;metal ion binding