ZBTB12

zinc finger and BTB domain containing 12, the group of BTB domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 6:31899612-31902086

Previous symbols: [ "C6orf46" ]

Links

ENSG00000204366 ∙ NCBI:221527 ∙ ∙ HGNC:19066 ∙ Uniprot:Q9Y330 ∙ 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 ZBTB12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB12 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	2
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	2

Variants in ZBTB12

This is a list of pathogenic ClinVar variants found in the ZBTB12 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-31900037-G-C			Benign (Feb 01, 2024)
6-31900172-C-T		not specified	Uncertain significance (Jan 23, 2023)
6-31900290-G-A		not specified	Uncertain significance (Apr 09, 2024)
6-31900393-G-A		not specified	Uncertain significance (May 16, 2024)
6-31900484-T-G		not specified	Uncertain significance (Mar 29, 2022)
6-31900525-C-A		not specified	Uncertain significance (Feb 22, 2023)
6-31900549-G-C		not specified	Uncertain significance (Jun 22, 2021)
6-31900695-T-C		not specified	Uncertain significance (Aug 15, 2023)
6-31900739-G-C		not specified	Uncertain significance (May 23, 2024)
6-31900786-G-A		not specified	Uncertain significance (Dec 06, 2023)
6-31900827-G-A		not specified	Uncertain significance (Oct 10, 2023)
6-31900888-C-T		not specified	Uncertain significance (Jun 09, 2022)
6-31901066-G-A		ZBTB12-related disorder • C2-related disorder	Benign (Jul 11, 2019)
6-31901274-T-C		not specified	Uncertain significance (Dec 28, 2023)
6-31901288-T-A		not specified	Uncertain significance (Jan 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB12	protein_coding	protein_coding	ENST00000375527	1	2386

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.949	0.0510	125741	0	6	125747	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.45	138	308	0.448	0.0000204	2966
Missense in Polyphen		10	23.434	0.42673		234
Synonymous	1.30	120	139	0.860	0.00000992	1004
Loss of Function	2.84	0	9.37	0.00	4.42e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000120
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000179	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.92

Haploinsufficiency Scores

• pHI: 0.179
• hipred: Y
• hipred_score: 0.529
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.929

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb12

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;metal ion binding