ZBTB43

zinc finger and BTB domain containing 43, the group of BTB domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 9:126805006-126838210

Previous symbols: [ "ZNF297B" ]

Links

ENSG00000169155 ∙ NCBI:23099 ∙ OMIM:618676 ∙ HGNC:17908 ∙ Uniprot:O43298 ∙ 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 ZBTB43 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB43 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			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	0	0

Variants in ZBTB43

This is a list of pathogenic ClinVar variants found in the ZBTB43 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-126832622-T-C		not specified	Uncertain significance (Jan 31, 2023)
9-126832642-C-T		not specified	Uncertain significance (Jun 02, 2024)
9-126832675-C-T		not specified	Uncertain significance (Apr 05, 2023)
9-126832732-G-A		not specified	Uncertain significance (Mar 24, 2023)
9-126832783-C-T		not specified	Uncertain significance (Sep 01, 2021)
9-126832784-G-A		not specified	Uncertain significance (Jan 12, 2024)
9-126832826-C-T		not specified	Uncertain significance (Nov 17, 2022)
9-126833048-G-A		not specified	Uncertain significance (Nov 18, 2022)
9-126833092-C-G		not specified	Uncertain significance (Aug 16, 2021)
9-126833122-C-T		not specified	Uncertain significance (Sep 15, 2021)
9-126833170-G-A		not specified	Uncertain significance (Dec 01, 2022)
9-126833194-C-T		not specified	Uncertain significance (Feb 12, 2024)
9-126833197-C-A		not specified	Uncertain significance (Sep 22, 2022)
9-126833201-T-C		not specified	Uncertain significance (Feb 21, 2024)
9-126833254-G-A		not specified	Uncertain significance (Dec 03, 2021)
9-126833286-T-G		not specified	Uncertain significance (Dec 12, 2023)
9-126833302-G-A		not specified	Uncertain significance (Mar 14, 2023)
9-126833308-C-T		not specified	Uncertain significance (Feb 13, 2024)
9-126833309-A-G		not specified	Uncertain significance (Apr 18, 2023)
9-126833332-A-C		not specified	Uncertain significance (Jul 14, 2022)
9-126833363-C-T		not specified	Uncertain significance (May 09, 2023)
9-126833389-G-A		not specified	Uncertain significance (Mar 07, 2023)
9-126833495-G-A		not specified	Uncertain significance (Jan 22, 2024)
9-126833513-T-C		not specified	Uncertain significance (Dec 28, 2022)
9-126833539-G-A		not specified	Uncertain significance (Nov 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB43	protein_coding	protein_coding	ENST00000373464	1	33205

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.988	0.0123	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.54	161	281	0.573	0.0000165	3142
Missense in Polyphen		26	107.8	0.24119		1246
Synonymous	0.420	105	111	0.949	0.00000750	857
Loss of Function	3.38	0	13.3	0.00	5.62e-7	173

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.110

Intolerance Scores

• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.99

Haploinsufficiency Scores

• pHI: 0.541
• hipred: Y
• hipred_score: 0.646
• ghis: 0.541

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.878

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb43

Gene ontology

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