ZNF234

zinc finger protein 234, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44141554-44160313

Previous symbols: [ "ZNF269" ]

Links

ENSG00000263002 ∙ NCBI:10780 ∙ OMIM:604750 ∙ HGNC:13027 ∙ Uniprot:Q14588 ∙ 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 ZNF234 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF234 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			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	1	0

Variants in ZNF234

This is a list of pathogenic ClinVar variants found in the ZNF234 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44148774-G-A		not specified	Uncertain significance (Jul 14, 2021)
19-44148781-C-A		not specified	Uncertain significance (May 08, 2024)
19-44148808-C-T		not specified	Uncertain significance (Oct 28, 2023)
19-44150458-A-G		not specified	Uncertain significance (Aug 21, 2023)
19-44156275-G-A		not specified	Uncertain significance (Mar 30, 2022)
19-44156341-A-G		not specified	Uncertain significance (Sep 17, 2021)
19-44156383-C-T		not specified	Uncertain significance (Dec 01, 2022)
19-44156530-G-A		not specified	Uncertain significance (Mar 20, 2023)
19-44156669-A-G		not specified	Uncertain significance (Oct 26, 2021)
19-44156734-G-A		not specified	Uncertain significance (Mar 25, 2024)
19-44156771-A-G		not specified	Uncertain significance (Mar 07, 2024)
19-44156942-T-C		not specified	Uncertain significance (Nov 21, 2022)
19-44157011-G-A		not specified	Likely benign (Sep 22, 2023)
19-44157064-G-A		not specified	Uncertain significance (Jan 25, 2023)
19-44157133-G-A		not specified	Uncertain significance (Oct 14, 2023)
19-44157230-G-A		not specified	Uncertain significance (Feb 16, 2023)
19-44157329-G-A		not specified	Uncertain significance (Jul 27, 2021)
19-44157419-G-C		not specified	Uncertain significance (Nov 01, 2022)
19-44157445-A-G		not specified	Uncertain significance (Aug 02, 2021)
19-44157480-G-T		not specified	Uncertain significance (Feb 13, 2024)
19-44157500-G-T		not specified	Uncertain significance (Sep 13, 2023)
19-44157539-G-A		not specified	Uncertain significance (Apr 20, 2024)
19-44157565-T-C		not specified	Uncertain significance (Mar 24, 2023)
19-44157679-C-T		not specified	Uncertain significance (Oct 10, 2023)
19-44157700-C-T		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF234	protein_coding	protein_coding	ENST00000426739	4	17447

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.69e-12	0.108	125626	0	122	125748	0.000485

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.15	303	365	0.830	0.0000181	4671
Missense in Polyphen		130	157.32	0.82632		2026
Synonymous	0.287	121	125	0.967	0.00000586	1215
Loss of Function	0.618	20	23.2	0.862	0.00000118	332

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00150	0.00148
Ashkenazi Jewish	0.00	0.00
East Asian	0.000935	0.000925
Finnish	0.00	0.00
European (Non-Finnish)	0.000407	0.000404
Middle Eastern	0.000935	0.000925
South Asian	0.000392	0.000392
Other	0.000328	0.000326

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: 0.684
• rvis_EVS: 0.25
• rvis_percentile_EVS: 69.57

Haploinsufficiency Scores

• pHI: 0.0544
• hipred: N
• hipred_score: 0.112
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.104

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;DNA-binding transcription factor activity;metal ion binding