ZNF524

zinc finger protein 524, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:55600022-55603138

Links

ENSG00000171443 ∙ NCBI:147807 ∙ ∙ HGNC:28322 ∙ Uniprot:Q96C55 ∙ 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 ZNF524 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF524 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			20	2		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	2	0

Variants in ZNF524

This is a list of pathogenic ClinVar variants found in the ZNF524 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-55602133-C-A		not specified	Uncertain significance (Jan 05, 2022)
19-55602153-C-T		not specified	Uncertain significance (Feb 05, 2024)
19-55602177-C-T		not specified	Uncertain significance (May 31, 2023)
19-55602182-T-C		not specified	Likely benign (Dec 09, 2023)
19-55602186-C-T		not specified	Uncertain significance (Nov 13, 2023)
19-55602188-C-T		not specified	Uncertain significance (Jul 15, 2024)
19-55602189-C-T		not specified	Uncertain significance (Oct 04, 2022)
19-55602227-G-A		not specified	Uncertain significance (Oct 04, 2022)
19-55602264-C-T		not specified	Uncertain significance (Nov 09, 2022)
19-55602266-C-T		not specified	Uncertain significance (May 06, 2024)
19-55602278-C-T		not specified	Uncertain significance (May 17, 2023)
19-55602279-G-A		not specified	Uncertain significance (Jun 21, 2023)
19-55602285-C-T		not specified	Uncertain significance (Mar 18, 2024)
19-55602288-A-G		not specified	Uncertain significance (Dec 21, 2022)
19-55602294-G-A		not specified	Uncertain significance (Sep 17, 2021)
19-55602326-G-T		not specified	Uncertain significance (Oct 13, 2023)
19-55602341-G-A		not specified	Uncertain significance (Jan 05, 2022)
19-55602362-C-T		not specified	Uncertain significance (Aug 20, 2024)
19-55602447-C-T		not specified	Uncertain significance (Jul 15, 2021)
19-55602539-C-G		not specified	Likely benign (Aug 13, 2021)
19-55602645-G-T		not specified	Uncertain significance (Apr 25, 2023)
19-55602789-G-A		not specified	Uncertain significance (Jun 03, 2022)
19-55602795-C-T		not specified	Uncertain significance (Aug 11, 2022)
19-55602798-T-G		not specified	Uncertain significance (Apr 19, 2024)
19-55602804-C-T		not specified	Uncertain significance (Feb 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF524	protein_coding	protein_coding	ENST00000591046	1	3117

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0811	0.768	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.917	151	186	0.811	0.0000136	1621
Missense in Polyphen		40	73.292	0.54576		585
Synonymous	0.582	70	76.5	0.915	0.00000517	580
Loss of Function	1.05	2	4.36	0.459	2.66e-7	52

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.508
• rvis_EVS: 0.13
• rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

• pHI: 0.654
• hipred: N
• hipred_score: 0.208
• ghis: 0.411

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.289

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp524

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;protein binding;metal ion binding