ZNF229

zinc finger protein 229, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44417518-44448578

Links

ENSG00000278318 ∙ NCBI:7772 ∙ ∙ HGNC:13022 ∙ Uniprot:Q9UJW7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF229 gene.

• Inborn genetic diseases (39 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF229 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			36	6		42
nonsense						0
start loss				1		1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	7	0

Variants in ZNF229

This is a list of pathogenic ClinVar variants found in the ZNF229 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44428320-C-T		not specified	Uncertain significance (Jun 09, 2022)
19-44428323-C-A		not specified	Uncertain significance (Nov 12, 2021)
19-44428385-C-T		not specified	Likely benign (Oct 04, 2022)
19-44428388-C-T		not specified	Uncertain significance (Jun 09, 2022)
19-44428391-G-A		not specified	Uncertain significance (Feb 11, 2022)
19-44428398-G-A		not specified	Uncertain significance (Jan 10, 2023)
19-44428409-G-T		not specified	Uncertain significance (Dec 23, 2022)
19-44428410-T-A		not specified	Uncertain significance (Jan 08, 2024)
19-44428434-G-A		not specified	Uncertain significance (May 15, 2023)
19-44428529-T-C		not specified	Uncertain significance (Aug 12, 2021)
19-44428529-T-G		not specified	Uncertain significance (Jan 30, 2024)
19-44428602-G-A		not specified	Uncertain significance (Apr 12, 2023)
19-44428683-G-A		not specified	Uncertain significance (Jul 13, 2022)
19-44428683-G-T		not specified	Uncertain significance (Apr 07, 2023)
19-44428691-G-C		not specified	Uncertain significance (Sep 22, 2023)
19-44428724-C-A		not specified	Uncertain significance (Apr 22, 2022)
19-44428745-G-A		not specified	Uncertain significance (Sep 13, 2023)
19-44428818-G-A		not specified	Uncertain significance (Dec 19, 2022)
19-44428886-T-G			Uncertain significance (Feb 01, 2018)
19-44428932-T-C		not specified	Uncertain significance (May 09, 2023)
19-44428943-G-A		not specified	Uncertain significance (May 08, 2023)
19-44428980-C-T		not specified	Uncertain significance (Oct 26, 2021)
19-44428995-C-T		not specified	Uncertain significance (Dec 04, 2023)
19-44429007-T-C		not specified	Uncertain significance (Apr 25, 2022)
19-44429034-G-A		not specified	Uncertain significance (Aug 03, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.773
• rvis_EVS: 1.25
• rvis_percentile_EVS: 93.48

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0397

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
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