ZBTB45

zinc finger and BTB domain containing 45, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 19:58513530-58538911

Previous symbols: [ "ZNF499" ]

Links

ENSG00000119574 ∙ NCBI:84878 ∙ ∙ HGNC:23715 ∙ Uniprot:Q96K62 ∙ 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 ZBTB45 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB45 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				1	1	2
missense			54	1		55
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	54	2	1

Variants in ZBTB45

This is a list of pathogenic ClinVar variants found in the ZBTB45 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-58514192-C-G		not specified	Uncertain significance (Jul 12, 2023)
19-58514227-C-T		not specified	Uncertain significance (Jan 29, 2024)
19-58514281-A-G		not specified	Uncertain significance (Oct 12, 2021)
19-58516410-T-C		not specified	Uncertain significance (Dec 16, 2023)
19-58516449-G-A		not specified	Uncertain significance (May 30, 2023)
19-58516488-G-A		not specified	Uncertain significance (Nov 30, 2022)
19-58516494-G-A		not specified	Uncertain significance (Nov 21, 2024)
19-58516511-G-A		not specified	Uncertain significance (Nov 12, 2021)
19-58516556-T-A		not specified	Uncertain significance (Jun 21, 2023)
19-58516590-G-A		not specified	Uncertain significance (Mar 17, 2023)
19-58516599-C-T		not specified	Uncertain significance (Feb 01, 2025)
19-58516608-G-A		not specified	Uncertain significance (Aug 04, 2021)
19-58516609-C-T			Benign (Aug 03, 2017)
19-58516610-G-A		not specified	Uncertain significance (May 30, 2023)
19-58516628-G-C		not specified	Uncertain significance (Jul 26, 2024)
19-58516640-G-A		not specified	Uncertain significance (Mar 29, 2023)
19-58516644-G-A		not specified	Uncertain significance (Apr 23, 2024)
19-58516647-C-T		not specified	Uncertain significance (Feb 14, 2024)
19-58516728-C-T		not specified	Uncertain significance (Dec 13, 2022)
19-58516735-T-C		not specified	Uncertain significance (Aug 16, 2021)
19-58516743-C-T		not specified	Uncertain significance (Oct 13, 2023)
19-58516776-C-T		not specified	Uncertain significance (Mar 01, 2023)
19-58516785-C-T		not specified	Likely benign (Jan 10, 2022)
19-58516794-C-G		not specified	Uncertain significance (Sep 10, 2024)
19-58516797-C-T		not specified	Uncertain significance (Nov 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB45	protein_coding	protein_coding	ENST00000594051	2	25382

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000288	0.795	125690	0	47	125737	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.36	287	360	0.798	0.0000245	3228
Missense in Polyphen		96	145.56	0.6595		1297
Synonymous	-1.93	195	164	1.19	0.0000124	1177
Loss of Function	1.22	9	13.9	0.648	8.32e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000475	0.000452
Ashkenazi Jewish	0.00	0.00
East Asian	0.000276	0.000272
Finnish	0.0000959	0.0000924
European (Non-Finnish)	0.000244	0.000237
Middle Eastern	0.000276	0.000272
South Asian	0.0000658	0.0000653
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation (Probable). In the central nervous system, may play a role in glial cell differentiation (By similarity). {ECO:0000250|UniProtKB:Q52KG4, ECO:0000305}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.397
• rvis_EVS: -0.38
• rvis_percentile_EVS: 28.01

Haploinsufficiency Scores

• pHI: 0.0954
• hipred: N
• hipred_score: 0.421
• ghis: 0.549

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.869

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb45
• Phenotype: growth/size/body region phenotype; skeleton phenotype

Gene ontology

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