ZNF569

zinc finger protein 569, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:37411155-37469275

Links

ENSG00000196437 ∙ NCBI:148266 ∙ OMIM:613904 ∙ HGNC:24737 ∙ Uniprot:Q5MCW4 ∙ 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 ZNF569 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF569 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			26
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	0	0

Variants in ZNF569

This is a list of pathogenic ClinVar variants found in the ZNF569 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-37412607-T-C		not specified	Uncertain significance (Jul 06, 2021)
19-37412610-A-G		not specified	Uncertain significance (Apr 13, 2022)
19-37412634-G-A		not specified	Uncertain significance (Jun 11, 2024)
19-37412673-T-C		not specified	Uncertain significance (Oct 14, 2021)
19-37412692-G-A		not specified	Uncertain significance (Sep 07, 2022)
19-37412755-C-T		not specified	Uncertain significance (Jan 30, 2024)
19-37412791-T-C		not specified	Uncertain significance (Jun 07, 2023)
19-37413043-G-A		not specified	Uncertain significance (Sep 27, 2021)
19-37413052-A-G		not specified	Uncertain significance (Jun 24, 2022)
19-37413055-C-A		not specified	Uncertain significance (Jul 20, 2022)
19-37413213-A-G		not specified	Uncertain significance (Feb 21, 2024)
19-37413408-T-C		not specified	Uncertain significance (May 17, 2023)
19-37413517-G-A		not specified	Uncertain significance (Apr 04, 2023)
19-37413550-T-G		not specified	Uncertain significance (Oct 03, 2022)
19-37413604-T-C		not specified	Uncertain significance (Dec 08, 2023)
19-37413625-T-C		not specified	Uncertain significance (May 04, 2023)
19-37413718-T-A		not specified	Uncertain significance (Apr 22, 2022)
19-37413768-G-A		not specified	Uncertain significance (May 23, 2024)
19-37413898-T-G		not specified	Uncertain significance (Feb 23, 2023)
19-37413994-C-T		not specified	Uncertain significance (Dec 21, 2022)
19-37414294-C-G		not specified	Uncertain significance (Mar 16, 2022)
19-37414314-C-T		not specified	Uncertain significance (Oct 05, 2023)
19-37414315-A-G		not specified	Uncertain significance (Jan 23, 2024)
19-37414325-T-G		not specified	Uncertain significance (May 03, 2023)
19-37425875-G-C		not specified	Uncertain significance (Apr 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF569	protein_coding	protein_coding	ENST00000316950	4	58121

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.60e-8	0.887	125697	0	48	125745	0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.23	284	348	0.815	0.0000156	4637
Missense in Polyphen		175	213.98	0.81784		2810
Synonymous	-0.160	121	119	1.02	0.00000549	1152
Loss of Function	1.67	15	23.8	0.630	0.00000116	373

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000212	0.000211
Ashkenazi Jewish	0.0000999	0.0000992
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000266	0.000264
Middle Eastern	0.000164	0.000163
South Asian	0.000267	0.000261
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.658
• rvis_EVS: -0.82
• rvis_percentile_EVS: 11.68

Haploinsufficiency Scores

• pHI: 0.275
• hipred: N
• hipred_score: 0.248
• ghis: 0.630

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.508

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp74

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