ZNF264

zinc finger protein 264, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57191500-57222846

Links

ENSG00000083844 ∙ NCBI:9422 ∙ OMIM:604668 ∙ HGNC:13057 ∙ Uniprot:O43296 ∙ 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 ZNF264 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF264 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			46	4		50
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	46	4	0

Variants in ZNF264

This is a list of pathogenic ClinVar variants found in the ZNF264 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57191939-G-C		not specified	Uncertain significance (Dec 02, 2022)
19-57193896-G-A		not specified	Uncertain significance (Dec 13, 2022)
19-57193912-C-G		not specified	Uncertain significance (Dec 15, 2023)
19-57193919-G-T		not specified	Uncertain significance (Dec 27, 2023)
19-57193926-G-A		not specified	Uncertain significance (Apr 13, 2022)
19-57193948-G-A		not specified	Uncertain significance (Oct 28, 2023)
19-57205431-C-A		not specified	Likely benign (Apr 20, 2023)
19-57205441-G-A		not specified	Uncertain significance (Jun 04, 2024)
19-57211401-G-A		not specified	Uncertain significance (May 18, 2023)
19-57211402-C-A		not specified	Uncertain significance (Apr 20, 2024)
19-57211402-C-T		not specified	Uncertain significance (Feb 23, 2023)
19-57211517-C-G		not specified	Likely benign (Oct 14, 2021)
19-57211567-A-G		not specified	Uncertain significance (Apr 04, 2024)
19-57211659-T-G		not specified	Uncertain significance (Aug 15, 2023)
19-57211695-G-A		not specified	Uncertain significance (Feb 17, 2024)
19-57211758-C-T		not specified	Uncertain significance (Jan 02, 2024)
19-57211768-T-C		not specified	Uncertain significance (May 28, 2024)
19-57211794-T-G		not specified	Uncertain significance (Apr 23, 2024)
19-57211819-T-G		not specified	Uncertain significance (Feb 13, 2023)
19-57211833-C-G		not specified	Uncertain significance (Jan 04, 2024)
19-57211881-A-T		not specified	Uncertain significance (Jan 08, 2024)
19-57211953-C-G		not specified	Uncertain significance (Dec 19, 2023)
19-57211974-G-A		not specified	Uncertain significance (Mar 30, 2024)
19-57212005-T-A		not specified	Uncertain significance (Jul 27, 2021)
19-57212071-G-A		not specified	Uncertain significance (Jul 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF264	protein_coding	protein_coding	ENST00000263095	4	21857

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.83e-7	0.881	125696	0	52	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.281	358	343	1.04	0.0000177	4127
Missense in Polyphen		117	124.52	0.93963		1576
Synonymous	-1.87	155	128	1.21	0.00000649	1173
Loss of Function	1.59	13	20.8	0.624	0.00000103	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.000795	0.000794
East Asian	0.000707	0.000707
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.000707	0.000707
South Asian	0.000294	0.000294
Other	0.00	0.00

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: 0.101

Intolerance Scores

• loftool: 0.744
• rvis_EVS: 0.16
• rvis_percentile_EVS: 64.82

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.112
• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.276

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