ZBTB6

zinc finger and BTB domain containing 6, the group of BTB domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 9:122908055-122913323

Previous symbols: [ "ZNF482" ]

Links

ENSG00000186130 ∙ NCBI:10773 ∙ OMIM:605976 ∙ HGNC:16764 ∙ Uniprot:Q15916 ∙ 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 ZBTB6 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB6 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in ZBTB6

This is a list of pathogenic ClinVar variants found in the ZBTB6 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-122910827-G-T		not specified	Uncertain significance (Dec 02, 2022)
9-122910884-G-A		not specified	Uncertain significance (Nov 10, 2022)
9-122910907-A-G		not specified	Uncertain significance (Nov 21, 2023)
9-122911008-C-A		not specified	Uncertain significance (May 10, 2022)
9-122911126-T-C		not specified	Uncertain significance (Dec 06, 2021)
9-122911158-C-A		not specified	Uncertain significance (Jul 28, 2021)
9-122911246-A-G		not specified	Uncertain significance (Jun 06, 2023)
9-122911290-C-G		not specified	Uncertain significance (Dec 09, 2023)
9-122911323-T-G		not specified	Uncertain significance (Nov 03, 2023)
9-122911682-G-C		not specified	Uncertain significance (May 10, 2022)
9-122911736-C-T		not specified	Uncertain significance (Jan 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB6	protein_coding	protein_coding	ENST00000373659	1	5275

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.137	0.859	125717	0	27	125744	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.72	144	215	0.669	0.0000100	2826
Missense in Polyphen		53	98.716	0.53689		1261
Synonymous	0.287	74	77.2	0.958	0.00000350	779
Loss of Function	2.52	4	14.3	0.280	8.37e-7	186

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000969	0.0000967
Middle Eastern	0.000109	0.000109
South Asian	0.000163	0.000163
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.497
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.570
• hipred: Y
• hipred_score: 0.607
• ghis: 0.643

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.925

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb6

Gene ontology

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