ZNF528

zinc finger protein 528, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:52397848-52418412

Links

ENSG00000167555 ∙ NCBI:84436 ∙ OMIM:615580 ∙ HGNC:29384 ∙ Uniprot:Q3MIS6 ∙ 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 ZNF528 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF528 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			42	2	2	46
nonsense				1	1	2
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	4	3

Variants in ZNF528

This is a list of pathogenic ClinVar variants found in the ZNF528 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-52405947-A-G		not specified	Uncertain significance (Jan 27, 2022)
19-52405971-C-T		not specified	Uncertain significance (May 20, 2024)
19-52405974-C-T			Likely benign (Jun 07, 2017)
19-52406536-G-A		not specified	Uncertain significance (Mar 15, 2024)
19-52406542-C-G		not specified	Uncertain significance (May 01, 2024)
19-52406557-A-G		not specified	Uncertain significance (Mar 29, 2023)
19-52406603-C-A		not specified	Uncertain significance (Jan 10, 2022)
19-52415161-G-T		not specified	Uncertain significance (Sep 29, 2022)
19-52415169-A-C		not specified	Uncertain significance (Jun 24, 2022)
19-52415201-C-G		not specified	Uncertain significance (Apr 29, 2024)
19-52415225-G-T		not specified	Uncertain significance (Jul 13, 2021)
19-52415231-AG-A			Likely benign (Dec 31, 2019)
19-52415289-C-T		not specified	Uncertain significance (Oct 05, 2023)
19-52415301-A-C		not specified	Uncertain significance (Jan 26, 2022)
19-52415417-A-C		not specified	Uncertain significance (Jun 05, 2024)
19-52415441-G-A		not specified	Uncertain significance (Oct 12, 2021)
19-52415549-A-G		not specified	Uncertain significance (Oct 28, 2023)
19-52415610-A-G		not specified	Uncertain significance (Feb 10, 2022)
19-52415621-T-C		not specified	Uncertain significance (Jan 23, 2024)
19-52415640-A-G		not specified	Uncertain significance (Nov 03, 2022)
19-52415688-G-A		not specified	Uncertain significance (Jun 22, 2021)
19-52415734-G-T		not specified	Uncertain significance (May 31, 2023)
19-52415784-A-G		not specified	Uncertain significance (May 30, 2023)
19-52415819-A-G		not specified	Uncertain significance (Dec 21, 2022)
19-52415858-C-T		not specified	Uncertain significance (May 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF528	protein_coding	protein_coding	ENST00000360465	4	20564

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000714	0.535	125737	0	6	125743	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.36	401	331	1.21	0.0000159	4186
Missense in Polyphen		123	107.59	1.1432		1442
Synonymous	-0.526	126	119	1.06	0.00000607	1112
Loss of Function	0.343	5	5.90	0.848	2.50e-7	71

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000550	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.0000550	0.0000544
South Asian	0.0000666	0.0000653
Other	0.00	0.00

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: 0.778
• rvis_EVS: 0.18
• rvis_percentile_EVS: 66.24

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.513

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

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