ZNF529

zinc finger protein 529, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:36534773-36605276

Links

ENSG00000186020 ∙ NCBI:57711 ∙ ∙ HGNC:29328 ∙ Uniprot:Q6P280 ∙ 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 ZNF529 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF529 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			30	3		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	3	0

Variants in ZNF529

This is a list of pathogenic ClinVar variants found in the ZNF529 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-36546939-C-G		not specified	Uncertain significance (Dec 15, 2022)
19-36546979-T-C		not specified	Uncertain significance (Apr 18, 2023)
19-36546997-A-G		not specified	Uncertain significance (Oct 20, 2023)
19-36547021-T-C		not specified	Uncertain significance (Apr 19, 2023)
19-36547033-T-C		not specified	Uncertain significance (Feb 07, 2023)
19-36547041-T-C		not specified	Uncertain significance (May 16, 2024)
19-36547109-A-C		not specified	Uncertain significance (Oct 06, 2022)
19-36547113-A-T		not specified	Uncertain significance (Jun 11, 2021)
19-36547170-G-A		not specified	Uncertain significance (Jun 29, 2023)
19-36547185-A-G		not specified	Uncertain significance (Mar 01, 2023)
19-36547245-G-T		not specified	Uncertain significance (May 24, 2024)
19-36547341-C-G		not specified	Uncertain significance (May 27, 2022)
19-36547410-C-T		not specified	Uncertain significance (Aug 02, 2021)
19-36547416-A-C		not specified	Uncertain significance (Feb 12, 2024)
19-36547429-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-36547552-T-G		not specified	Uncertain significance (Sep 21, 2023)
19-36547564-G-T		not specified	Uncertain significance (Jul 05, 2023)
19-36547575-T-C		not specified	Uncertain significance (Oct 06, 2021)
19-36547639-C-T		not specified	Uncertain significance (Aug 02, 2023)
19-36547789-T-C		not specified	Uncertain significance (Apr 25, 2023)
19-36547840-T-C		not specified	Likely benign (Sep 14, 2023)
19-36547861-C-T		not specified	Uncertain significance (Apr 24, 2023)
19-36547918-T-C		not specified	Uncertain significance (Jan 16, 2024)
19-36547926-T-C		not specified	Uncertain significance (Jun 24, 2022)
19-36547984-T-C		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF529	protein_coding	protein_coding	ENST00000591340	4	70503

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000536	0.972	125151	0	136	125287	0.000543

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.780	251	288	0.871	0.0000132	3789
Missense in Polyphen		82	93.493	0.87707		1231
Synonymous	-0.415	101	95.8	1.05	0.00000440	938
Loss of Function	1.98	10	19.4	0.515	9.39e-7	297

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000620	0.000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000165	0.000163
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.000912	0.000908
Middle Eastern	0.000165	0.000163
South Asian	0.000394	0.000392
Other	0.000331	0.000329

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: 0.662
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.146
• hipred: N
• hipred_score: 0.112
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.260

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