ZNF526

zinc finger protein 526, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:42220292-42228201

Links

ENSG00000167625 ∙ NCBI:116115 ∙ OMIM:614387 ∙ HGNC:29415 ∙ Uniprot:Q8TF50 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Dentici-Novelli neurodevelopmental syndrome (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Dentici-Novelli neurodevelopmental syndrome	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Neurologic; Ophthalmologic	33397746

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF526 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF526 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			4	2	2	8
missense		1	43	2	3	49
nonsense			1		1	2
start loss						0
frameshift						0
inframe indel			1		1	2
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	1		2
Total	0	1	50	5	7

Variants in ZNF526

This is a list of pathogenic ClinVar variants found in the ZNF526 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-42224402-C-T		not specified	Uncertain significance (Aug 18, 2015)
19-42224450-C-G			Uncertain significance (May 02, 2022)
19-42224484-G-A			Uncertain significance (Apr 01, 2013)
19-42224506-A-G		Inborn genetic diseases	Uncertain significance (Jun 29, 2022)
19-42224593-A-G		Inborn genetic diseases	Uncertain significance (Jun 17, 2024)
19-42224684-T-C		not specified • ZNF526-related disorder	Benign (-)
19-42224692-G-C		Inborn genetic diseases	Uncertain significance (Jun 27, 2023)
19-42224707-C-G		Inborn genetic diseases	Uncertain significance (Aug 10, 2021)
19-42224723-C-T		Inborn genetic diseases	Likely benign (May 26, 2024)
19-42224744-G-A		Inborn genetic diseases	Uncertain significance (Nov 01, 2022)
19-42224798-G-A		Inborn genetic diseases	Uncertain significance (Sep 27, 2021)
19-42224882-A-C		Intellectual disability;Noonan-like facies;Pulmonic stenosis • Dentici-Novelli neurodevelopmental syndrome	Likely pathogenic (-)
19-42224904-G-A		not specified	Benign (Dec 31, 2019)
19-42224917-C-A		Inborn genetic diseases	Uncertain significance (May 02, 2022)
19-42224969-C-T		not specified	Benign (Dec 31, 2019)
19-42225010-T-C			Uncertain significance (Jan 16, 2024)
19-42225022-G-A		Inborn genetic diseases	Uncertain significance (Oct 12, 2022)
19-42225115-G-A		Inborn genetic diseases	Uncertain significance (May 26, 2024)
19-42225121-G-A			Uncertain significance (Jan 16, 2024)
19-42225150-GGAT-G			Uncertain significance (Jul 08, 2013)
19-42225153-TGAG-T		not specified • ZNF526-related disorder	Benign (Dec 31, 2019)
19-42225159-G-A		not specified	Uncertain significance (Feb 10, 2015)
19-42225175-G-A		Inborn genetic diseases	Uncertain significance (Jan 16, 2024)
19-42225199-G-A		not specified	Uncertain significance (Jul 21, 2015)
19-42225228-C-T		not specified • ZNF526-related disorder	Uncertain significance (Aug 06, 2015)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF526	protein_coding	protein_coding	ENST00000301215	1	7931

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.523	0.477	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.454	395	421	0.938	0.0000298	4316
Missense in Polyphen		173	214.51	0.80649		2111
Synonymous	0.500	160	168	0.951	0.0000112	1434
Loss of Function	3.24	4	19.4	0.206	0.00000120	212

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.

Intolerance Scores

• loftool: 0.649
• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.46

Haploinsufficiency Scores

• pHI: 0.291
• hipred: N
• hipred_score: 0.337
• ghis: 0.590

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0561

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp526

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