ZBTB25

zinc finger and BTB domain containing 25, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 14:64449105-64505213

Previous symbols: [ "ZNF46", "C14orf51" ]

Links

ENSG00000089775 ∙ NCBI:7597 ∙ OMIM:194541 ∙ HGNC:13112 ∙ Uniprot:P24278 ∙ 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 ZBTB25 gene.

• not provided (68 variants)
• Inborn genetic diseases (35 variants)
• Severe combined immunodeficiency disease (2 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB25 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	1		3
missense			15	3		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	2	2	49	22	8	83
Total	2	2	66	26	8

Variants in ZBTB25

This is a list of pathogenic ClinVar variants found in the ZBTB25 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-64449425-A-G			Likely benign (Jul 15, 2022)
14-64449429-A-G			Likely benign (Jan 06, 2024)
14-64449437-C-A			Likely benign (May 12, 2022)
14-64449441-A-C			Likely benign (Jul 09, 2023)
14-64449447-C-T			Benign (Jan 29, 2024)
14-64449448-G-A			Uncertain significance (Aug 19, 2022)
14-64449453-C-T			Uncertain significance (Nov 08, 2022)
14-64449464-C-G			Uncertain significance (Jun 08, 2022)
14-64449470-C-T		not specified	Benign/Likely benign (Jan 29, 2024)
14-64449472-C-T			Likely benign (Jan 07, 2022)
14-64449476-A-G			Uncertain significance (Jul 25, 2022)
14-64449477-G-C			Uncertain significance (Jun 28, 2023)
14-64449479-C-T			Uncertain significance (Jun 04, 2022)
14-64449480-G-A		MTHFD1-related disorder	Benign (Jan 29, 2024)
14-64449483-T-A			Uncertain significance (Apr 28, 2022)
14-64449512-G-A		Inborn genetic diseases	Uncertain significance (Apr 07, 2022)
14-64449514-G-C			Likely benign (Jul 12, 2023)
14-64449518-T-C			Uncertain significance (May 17, 2021)
14-64449557-C-A			Uncertain significance (Mar 03, 2022)
14-64449565-G-A			Likely benign (Jan 20, 2022)
14-64449569-G-A			Uncertain significance (Sep 07, 2022)
14-64449573-A-G		MTHFD1-related disorder	Likely benign (Nov 19, 2023)
14-64449577-A-G			Likely benign (Nov 19, 2023)
14-64449592-C-T			Likely benign (Jun 13, 2022)
14-64449626-G-C			Uncertain significance (Mar 08, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB25	protein_coding	protein_coding	ENST00000608382	2	56108

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000219	0.727	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.617	207	234	0.886	0.0000117	2885
Missense in Polyphen		74	86.935	0.85121		1094
Synonymous	1.03	72	84.0	0.857	0.00000399	829
Loss of Function	1.17	11	16.1	0.685	9.82e-7	181

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.00103	0.00103
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.00103	0.00103
South Asian	0.000265	0.000261
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0918

Intolerance Scores

• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.56

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.216
• ghis: 0.565

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: E
• gene_indispensability_score: 0.893

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb25

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;gene expression
• Cellular component: nucleoplasm;cytoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;protein binding;metal ion binding