ZNF324B

zinc finger protein 324B, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:58451611-58457833

Links

ENSG00000249471 ∙ NCBI:388569 ∙ ∙ HGNC:33107 ∙ Uniprot:Q6AW86 ∙ 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 ZNF324B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF324B 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
missense			34	4		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	5	0

Variants in ZNF324B

This is a list of pathogenic ClinVar variants found in the ZNF324B region.

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

Position	Type	Phenotype	Significance	ClinVar
19-58453781-G-A		not specified	Uncertain significance (Nov 18, 2022)
19-58454305-A-G		not specified	Likely benign (Sep 20, 2023)
19-58454307-G-A		not specified	Uncertain significance (Dec 18, 2023)
19-58454312-T-C		not specified	Likely benign (Dec 03, 2021)
19-58454334-G-T		not specified	Uncertain significance (Dec 13, 2022)
19-58455249-C-T		not specified	Uncertain significance (Aug 12, 2021)
19-58455257-A-C		not specified	Uncertain significance (Feb 22, 2024)
19-58455321-C-G		not specified	Likely benign (May 02, 2024)
19-58455351-C-T		not specified	Uncertain significance (May 18, 2022)
19-58455363-C-T		not specified	Uncertain significance (Aug 20, 2023)
19-58455420-G-A		not specified	Uncertain significance (Apr 18, 2023)
19-58455453-A-G		not specified	Uncertain significance (Dec 20, 2023)
19-58455474-A-G		not specified	Uncertain significance (Aug 21, 2023)
19-58455477-C-T		not specified	Uncertain significance (Jul 05, 2023)
19-58455567-G-C		not specified	Uncertain significance (Dec 28, 2023)
19-58455576-C-T		not specified	Uncertain significance (Apr 22, 2024)
19-58455581-C-G		not specified	Uncertain significance (Mar 01, 2023)
19-58455672-G-C		not specified	Uncertain significance (Jan 08, 2024)
19-58455743-G-A		not specified	Uncertain significance (May 18, 2023)
19-58455751-C-G		not specified	Uncertain significance (Mar 20, 2023)
19-58455800-G-A		not specified	Uncertain significance (May 13, 2024)
19-58455819-A-C		not specified	Uncertain significance (Dec 02, 2021)
19-58455837-C-T		not specified	Uncertain significance (May 13, 2024)
19-58455904-G-C		not specified	Uncertain significance (Aug 16, 2022)
19-58455951-C-T		not specified	Uncertain significance (May 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF324B	protein_coding	protein_coding	ENST00000336614	3	6230

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000350	0.828	125712	0	26	125738	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.633	348	383	0.909	0.0000282	3529
Missense in Polyphen		134	167.28	0.80105		1587
Synonymous	-0.351	174	168	1.03	0.0000132	1137
Loss of Function	1.30	9	14.3	0.629	7.86e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000107	0.000106
Middle Eastern	0.000272	0.000272
South Asian	0.000164	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.759
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.57

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.218
• ghis: 0.652

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.153

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp324

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