ZNF573

zinc finger protein 573, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:37735833-37817300

Links

ENSG00000189144 ∙ NCBI:126231 ∙ ∙ HGNC:26420 ∙ Uniprot:Q86YE8 ∙ 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 ZNF573 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF573 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				3		3
missense			36	1		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	4	0

Variants in ZNF573

This is a list of pathogenic ClinVar variants found in the ZNF573 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-37738619-T-C		not specified	Uncertain significance (Dec 07, 2023)
19-37738646-C-A		not specified	Uncertain significance (May 22, 2023)
19-37738674-C-A		not specified	Uncertain significance (Nov 17, 2023)
19-37738745-T-C		not specified	Uncertain significance (Sep 21, 2023)
19-37738771-C-G		not specified	Uncertain significance (Dec 28, 2022)
19-37738788-G-A		not specified	Uncertain significance (Jan 05, 2022)
19-37738797-G-A		not specified	Uncertain significance (Apr 20, 2023)
19-37738823-C-T		not specified	Uncertain significance (Jan 02, 2024)
19-37738898-C-T		not specified	Uncertain significance (Mar 15, 2024)
19-37738911-C-G		not specified	Uncertain significance (Jan 04, 2022)
19-37738922-A-G		not specified	Uncertain significance (Feb 28, 2024)
19-37738961-T-C		not specified	Uncertain significance (May 23, 2023)
19-37739024-C-T		not specified	Likely benign (Feb 28, 2024)
19-37739027-T-C		not specified	Uncertain significance (Mar 02, 2023)
19-37739028-G-A		not specified	Uncertain significance (Sep 26, 2022)
19-37739098-G-A			Likely benign (Mar 01, 2023)
19-37739113-T-C			Likely benign (Mar 01, 2023)
19-37739124-T-C		not specified	Uncertain significance (Jun 18, 2021)
19-37739180-G-A		not specified	Uncertain significance (Sep 06, 2022)
19-37739232-C-T		not specified	Uncertain significance (Apr 04, 2023)
19-37739316-C-G		not specified	Uncertain significance (Nov 03, 2022)
19-37739326-G-A			Likely benign (Mar 01, 2023)
19-37739333-A-G		not specified	Uncertain significance (Jun 04, 2024)
19-37739366-C-T		not specified	Uncertain significance (May 29, 2024)
19-37739375-T-G		not specified	Uncertain significance (Dec 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF573	protein_coding	protein_coding	ENST00000590414	4	81207

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.99e-11	0.124	125649	0	92	125741	0.000366

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.351	328	346	0.947	0.0000163	4423
Missense in Polyphen		122	116.77	1.0448		1486
Synonymous	0.692	106	115	0.918	0.00000529	1142
Loss of Function	0.537	18	20.6	0.872	9.26e-7	328

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000534	0.000533
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000996	0.000979
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000223	0.000220
Middle Eastern	0.000996	0.000979
South Asian	0.000883	0.000882
Other	0.000656	0.000652

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: 0.976
• rvis_EVS: 0.09
• rvis_percentile_EVS: 60.57

Haploinsufficiency Scores

• pHI: 0.235
• hipred: N
• hipred_score: 0.112
• ghis: 0.396

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.146

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, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA binding;metal ion binding