ZBTB5

zinc finger and BTB domain containing 5, the group of BTB domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 9:37438102-37465450

Links

ENSG00000168795 ∙ NCBI:9925 ∙ OMIM:616590 ∙ HGNC:23836 ∙ Uniprot:O15062 ∙ 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 ZBTB5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB5 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			37	1		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	1	0

Variants in ZBTB5

This is a list of pathogenic ClinVar variants found in the ZBTB5 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-37440535-G-A		not specified	Uncertain significance (Jul 14, 2023)
9-37440728-C-G		not specified	Uncertain significance (May 15, 2024)
9-37440748-G-C		not specified	Uncertain significance (Oct 26, 2021)
9-37440835-T-A		not specified	Uncertain significance (Jan 24, 2024)
9-37440852-G-A		not specified	Uncertain significance (Dec 18, 2024)
9-37440883-A-T		not specified	Uncertain significance (Jun 29, 2023)
9-37440974-C-A		not specified	Uncertain significance (Jan 29, 2024)
9-37440990-A-G		not specified	Uncertain significance (Jul 13, 2021)
9-37441003-A-T		not specified	Uncertain significance (Mar 28, 2023)
9-37441017-C-T		not specified	Uncertain significance (Jul 14, 2024)
9-37441296-T-C		not specified	Likely benign (Aug 30, 2022)
9-37441386-A-G		not specified	Uncertain significance (Aug 06, 2021)
9-37441413-G-A		not specified	Uncertain significance (Feb 05, 2025)
9-37441422-C-T		not specified	Uncertain significance (Jul 26, 2021)
9-37441533-T-C		not specified	Uncertain significance (Mar 04, 2024)
9-37441549-T-C		not specified	Uncertain significance (Jan 17, 2025)
9-37441713-G-T		not specified	Uncertain significance (Aug 21, 2024)
9-37441761-A-G		not specified	Uncertain significance (Jan 03, 2024)
9-37441765-A-C		not specified	Uncertain significance (Jan 12, 2024)
9-37441810-C-T		not specified	Uncertain significance (Nov 15, 2024)
9-37441828-C-G		not specified	Uncertain significance (Mar 18, 2024)
9-37441905-T-A		not specified	Uncertain significance (Dec 14, 2021)
9-37441905-T-C		not specified	Uncertain significance (Jun 21, 2021)
9-37441906-C-A		not specified	Uncertain significance (Dec 14, 2021)
9-37441926-A-G		not specified	Uncertain significance (Dec 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB5	protein_coding	protein_coding	ENST00000307750	1	27286

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.618	0.382	125730	0	18	125748	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.23	316	384	0.823	0.0000221	4514
Missense in Polyphen		94	145.95	0.64404		1709
Synonymous	-0.450	150	143	1.05	0.00000818	1343
Loss of Function	3.02	3	16.1	0.187	8.81e-7	209

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000109	0.000109
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000106	0.0000879
Middle Eastern	0.000109	0.000109
South Asian	0.0000980	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.457
• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.46

Haploinsufficiency Scores

• pHI: 0.317
• hipred: Y
• hipred_score: 0.595
• ghis: 0.568

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.962

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb5

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;cellular response to DNA damage stimulus
• Cellular component: nucleus
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;protein binding;metal ion binding