ZNF829

zinc finger protein 829, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:36888124-36916291

Links

ENSG00000185869 ∙ NCBI:374899 ∙ ∙ HGNC:34032 ∙ Uniprot:Q3KNS6 ∙ 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 ZNF829 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF829 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				1		1
missense			20	1		21
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	21	2	0

Variants in ZNF829

This is a list of pathogenic ClinVar variants found in the ZNF829 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-36891518-G-A		not specified	Uncertain significance (Sep 10, 2024)
19-36891533-G-A		not specified	Uncertain significance (May 23, 2023)
19-36891601-C-T		not specified	Uncertain significance (Nov 26, 2024)
19-36891630-C-A		not specified	Uncertain significance (Mar 04, 2024)
19-36891651-A-G			Likely benign (Mar 01, 2023)
19-36891667-G-A		not specified	Uncertain significance (Apr 20, 2024)
19-36891718-C-T		not specified	Uncertain significance (May 02, 2024)
19-36891719-T-C		not specified	Likely benign (Oct 12, 2024)
19-36891737-A-T		not specified	Uncertain significance (Aug 12, 2022)
19-36891766-T-C		not specified	Uncertain significance (Mar 07, 2023)
19-36891798-C-G		not specified	Uncertain significance (Oct 21, 2021)
19-36891907-G-A		not specified	Uncertain significance (Mar 18, 2024)
19-36891952-C-T		not specified	Uncertain significance (Oct 12, 2022)
19-36892037-A-G		not specified	Uncertain significance (Nov 15, 2023)
19-36892057-C-T		not specified	Uncertain significance (May 01, 2024)
19-36892121-T-C		not specified	Uncertain significance (Aug 08, 2023)
19-36892205-C-G		not specified	Uncertain significance (May 27, 2022)
19-36892207-C-T		not specified	Uncertain significance (Dec 16, 2022)
19-36892308-A-C		not specified	Uncertain significance (Aug 02, 2021)
19-36892399-C-T		not specified	Likely benign (Mar 30, 2024)
19-36892400-G-A		not specified	Uncertain significance (Jun 23, 2021)
19-36892412-C-T		not specified	Uncertain significance (Oct 01, 2024)
19-36908431-A-G		not specified	Uncertain significance (Dec 12, 2023)
19-36915157-G-A		not specified	Uncertain significance (Mar 06, 2023)
19-36915197-G-A		not specified	Likely benign (Jun 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF829	protein_coding	protein_coding	ENST00000520965	6	28168

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.90e-11	0.223	125511	0	63	125574	0.000251

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	219	266	0.822	0.0000125	3392
Missense in Polyphen		80	98.956	0.80844		1359
Synonymous	1.35	74	90.3	0.819	0.00000425	916
Loss of Function	0.782	18	22.0	0.820	0.00000106	297

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000602	0.000585
Ashkenazi Jewish	0.000699	0.000695
East Asian	0.000385	0.000381
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.000205	0.000202
Middle Eastern	0.000385	0.000381
South Asian	0.000360	0.000359
Other	0.000329	0.000328

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.712
• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.112
• ghis: 0.559

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