ZNF334

zinc finger protein 334, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 20:46499630-46513559

Links

ENSG00000198185 ∙ NCBI:55713 ∙ ∙ HGNC:15806 ∙ Uniprot:Q9HCZ1 ∙ 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 ZNF334 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF334 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			35	1		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	1	0

Variants in ZNF334

This is a list of pathogenic ClinVar variants found in the ZNF334 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-46501314-C-A		not specified	Uncertain significance (Jul 08, 2022)
20-46501343-G-A		not specified	Uncertain significance (Jan 23, 2023)
20-46501366-C-A		not specified	Uncertain significance (Feb 21, 2024)
20-46501380-C-G		not specified	Uncertain significance (May 10, 2024)
20-46501412-G-C		not specified	Uncertain significance (Mar 22, 2023)
20-46501423-C-T		not specified	Uncertain significance (Mar 28, 2024)
20-46501426-C-T		not specified	Uncertain significance (Nov 15, 2023)
20-46501457-A-G		not specified	Uncertain significance (Jan 09, 2024)
20-46501478-T-C		not specified	Uncertain significance (Aug 21, 2024)
20-46501479-T-A		not specified	Uncertain significance (Apr 25, 2022)
20-46501483-C-G		not specified	Uncertain significance (Jan 04, 2022)
20-46501510-C-A		not specified	Uncertain significance (Feb 07, 2023)
20-46501526-A-C		not specified	Uncertain significance (Mar 29, 2023)
20-46501564-C-T		not specified	Uncertain significance (Jul 09, 2021)
20-46501613-C-T		not specified	Uncertain significance (Jan 05, 2022)
20-46501615-T-C		not specified	Uncertain significance (Oct 01, 2024)
20-46501624-T-C		not specified	Uncertain significance (Apr 27, 2022)
20-46501636-C-T		not specified	Uncertain significance (Nov 14, 2023)
20-46501656-G-T		not specified	Uncertain significance (Sep 14, 2023)
20-46501679-A-C		not specified	Uncertain significance (Sep 02, 2024)
20-46501763-C-T		not specified	Likely benign (Jun 24, 2022)
20-46501795-T-G		not specified	Uncertain significance (Sep 27, 2022)
20-46501871-C-T		not specified	Uncertain significance (Nov 09, 2022)
20-46501949-T-C		not specified	Uncertain significance (Apr 12, 2024)
20-46501964-T-C		not specified	Uncertain significance (Nov 13, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF334	protein_coding	protein_coding	ENST00000347606	4	12498

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.61e-9	0.612	125448	1	297	125746	0.00119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.528	371	343	1.08	0.0000168	4558
Missense in Polyphen		100	96.236	1.0391		1292
Synonymous	-0.171	122	120	1.02	0.00000598	1157
Loss of Function	1.27	17	23.7	0.718	0.00000133	356

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00409	0.00403
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.00152	0.00152
Finnish	0.000648	0.000647
European (Non-Finnish)	0.00122	0.00122
Middle Eastern	0.00152	0.00152
South Asian	0.000882	0.000882
Other	0.000327	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)

Recessive Scores

• pRec: 0.0940

Intolerance Scores

• loftool: 0.914
• rvis_EVS: 0.89
• rvis_percentile_EVS: 89.27

Haploinsufficiency Scores

• pHI: 0.445
• hipred: N
• hipred_score: 0.112
• ghis: 0.492

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.914

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp334

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;protein binding;metal ion binding