ZBTB32

zinc finger and BTB domain containing 32, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 19:35704558-35717038

Links

ENSG00000011590 ∙ NCBI:27033 ∙ OMIM:605859 ∙ HGNC:16763 ∙ Uniprot:Q9Y2Y4 ∙ 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 ZBTB32 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB32 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			33	2		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	2	0

Variants in ZBTB32

This is a list of pathogenic ClinVar variants found in the ZBTB32 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-35714747-C-G		not specified	Uncertain significance (Dec 27, 2023)
19-35714804-T-C		not specified	Uncertain significance (May 31, 2022)
19-35714828-C-T		not specified	Uncertain significance (Sep 13, 2023)
19-35714883-A-C		not specified	Uncertain significance (Oct 29, 2021)
19-35714913-C-T		not specified	Uncertain significance (Nov 17, 2022)
19-35714952-G-A		not specified	Uncertain significance (Jan 16, 2024)
19-35714963-C-G		not specified	Uncertain significance (Sep 26, 2023)
19-35714964-G-A		not specified	Uncertain significance (Nov 17, 2022)
19-35715026-C-A		not specified	Uncertain significance (Apr 22, 2022)
19-35715044-A-G		not specified	Uncertain significance (Aug 16, 2022)
19-35715057-A-T		not specified	Uncertain significance (Dec 09, 2023)
19-35715085-G-T		not specified	Uncertain significance (Jun 05, 2023)
19-35715118-G-A		not specified	Uncertain significance (Mar 01, 2024)
19-35715123-A-G		not specified	Uncertain significance (May 08, 2024)
19-35715180-A-G		not specified	Uncertain significance (Jun 27, 2022)
19-35715203-G-A		not specified	Uncertain significance (Aug 16, 2021)
19-35715227-G-A		not specified	Uncertain significance (May 26, 2023)
19-35715257-G-T		not specified	Uncertain significance (Feb 23, 2023)
19-35715344-C-A		not specified	Uncertain significance (May 17, 2023)
19-35715395-G-A		not specified	Uncertain significance (Jan 12, 2024)
19-35715432-C-T		not specified	Uncertain significance (Nov 18, 2022)
19-35715498-G-A		not specified	Likely benign (Apr 22, 2022)
19-35715953-G-C		not specified	Uncertain significance (Jan 19, 2024)
19-35716135-G-A		not specified	Uncertain significance (Jan 24, 2024)
19-35716156-C-T		not specified	Uncertain significance (Jun 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB32	protein_coding	protein_coding	ENST00000392197	5	12512

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000258	0.985	125708	0	3	125711	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.957	233	278	0.838	0.0000138	3088
Missense in Polyphen		16	29.723	0.5383		285
Synonymous	-0.488	123	116	1.06	0.00000593	1056
Loss of Function	2.16	9	19.2	0.469	8.94e-7	205

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000914	0.0000906
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000886	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: DNA-binding protein that binds to the to a 5'- TGTACAGTGT-3' core sequence. May function as a transcriptional transactivator and transcriptional repressor. Probably exerts its repressor effect by preventing GATA3 from binding to DNA. May play a role in regulating the differentiation and activation of helper T-cells (By similarity). {ECO:0000250, ECO:0000269|PubMed:10572087}.
• Pathway: DNA Repair;Recognition of DNA damage by PCNA-containing replication complex;DNA Damage Bypass (Consensus)

Recessive Scores

• pRec: 0.247

Intolerance Scores

• loftool: 0.465
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.19

Haploinsufficiency Scores

• pHI: 0.145
• hipred: N
• hipred_score: 0.257
• ghis: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.732

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb32
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; immune system phenotype; hematopoietic system phenotype; normal phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;transcription corepressor activity;protein binding;zinc ion binding