ZNF574

zinc finger protein 574, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:42068477-42081552

Links

ENSG00000105732 ∙ NCBI:64763 ∙ ∙ HGNC:26166 ∙ Uniprot:Q6ZN55 ∙ 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 ZNF574 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF574 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			61			61
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	61	0	0

Variants in ZNF574

This is a list of pathogenic ClinVar variants found in the ZNF574 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-42078749-G-A		not specified	Uncertain significance (May 31, 2023)
19-42078760-C-G		not specified	Uncertain significance (Aug 14, 2023)
19-42078772-G-A		not specified	Uncertain significance (Dec 17, 2023)
19-42078809-A-G		not specified	Uncertain significance (May 10, 2024)
19-42078905-A-G		not specified	Uncertain significance (Feb 16, 2023)
19-42078910-A-C		not specified	Uncertain significance (Jul 06, 2021)
19-42079039-C-T		not specified	Uncertain significance (Jan 10, 2023)
19-42079040-G-A		not specified	Uncertain significance (May 23, 2023)
19-42079129-G-A		not specified	Uncertain significance (Jan 12, 2024)
19-42079142-T-C		not specified	Uncertain significance (May 09, 2023)
19-42079162-G-A		not specified	Uncertain significance (Feb 28, 2024)
19-42079184-C-T		not specified	Uncertain significance (Mar 04, 2024)
19-42079198-G-T		not specified	Uncertain significance (Mar 31, 2023)
19-42079199-C-T		not specified	Uncertain significance (Mar 31, 2023)
19-42079201-G-A		not specified	Uncertain significance (Jan 26, 2022)
19-42079324-C-T		not specified	Uncertain significance (Oct 29, 2021)
19-42079330-C-T		not specified	Uncertain significance (Dec 14, 2021)
19-42079442-G-A		not specified	Uncertain significance (Mar 19, 2024)
19-42079456-A-G		not specified	Uncertain significance (Jan 03, 2024)
19-42079478-G-A		not specified	Uncertain significance (Jul 05, 2023)
19-42079535-T-G		not specified	Uncertain significance (Mar 16, 2022)
19-42079540-T-C		not specified	Uncertain significance (Dec 15, 2022)
19-42079769-C-T		not specified	Uncertain significance (Jun 27, 2022)
19-42079874-C-T		not specified	Uncertain significance (Dec 27, 2023)
19-42079895-C-G		not specified	Uncertain significance (Nov 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF574	protein_coding	protein_coding	ENST00000600245	1	13073

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0802	0.920	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.31	476	564	0.845	0.0000402	5713
Missense in Polyphen		113	152.93	0.73891		1397
Synonymous	-2.21	269	227	1.19	0.0000133	2013
Loss of Function	3.44	7	25.9	0.270	0.00000163	283

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000653	0.0000653
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.0687
• rvis_EVS: -2.04
• rvis_percentile_EVS: 1.67

Haploinsufficiency Scores

• pHI: 0.287
• hipred: Y
• hipred_score: 0.727
• ghis: 0.604

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.258

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp574

Zebrafish Information Network

• Gene name: znf574
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: dead

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