ZNF84

zinc finger protein 84, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 12:133037292-133063304

Links

ENSG00000198040 ∙ NCBI:7637 ∙ OMIM:618554 ∙ HGNC:13159 ∙ Uniprot:P51523 ∙ 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 ZNF84 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF84 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			17	5		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	17	5	1

Variants in ZNF84

This is a list of pathogenic ClinVar variants found in the ZNF84 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-133048690-A-T		not specified	Benign (-)
12-133057003-C-G		not specified	Likely benign (Feb 15, 2023)
12-133057133-C-G		not specified	Uncertain significance (Jan 05, 2022)
12-133057170-A-G		not specified	Likely benign (Apr 07, 2022)
12-133057215-A-G		not specified	Uncertain significance (Mar 02, 2023)
12-133057411-C-A		not specified	Likely benign (Jul 14, 2021)
12-133057629-A-G		not specified	Uncertain significance (Dec 21, 2022)
12-133057680-A-G		not specified	Likely benign (Jun 17, 2022)
12-133057883-C-T		not specified	Uncertain significance (Feb 27, 2023)
12-133057962-C-T		not specified	Uncertain significance (Jul 20, 2022)
12-133058095-A-G		not specified	Uncertain significance (Dec 28, 2022)
12-133058139-T-G		not specified	Uncertain significance (Feb 08, 2023)
12-133058325-A-G		not specified	Uncertain significance (Aug 02, 2021)
12-133058499-G-C		not specified	Uncertain significance (Jul 09, 2021)
12-133058530-G-C		not specified	Uncertain significance (Aug 17, 2022)
12-133058535-C-G		not specified	Uncertain significance (Oct 18, 2021)
12-133058722-C-G		not specified	Uncertain significance (Apr 25, 2023)
12-133058763-A-G		not specified	Uncertain significance (Jul 09, 2021)
12-133058771-A-C		not specified	Uncertain significance (Apr 22, 2022)
12-133058850-G-A		not specified	Likely benign (Dec 28, 2022)
12-133058856-T-C		not specified	Uncertain significance (Mar 23, 2023)
12-133058870-G-A		not specified	Uncertain significance (Mar 31, 2023)
12-133058895-T-C		not specified	Uncertain significance (Apr 07, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.118

Haploinsufficiency Scores

• pHI: 0.669
• ghis: 0.594

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.943

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;zinc ion binding