ZNF571

zinc finger protein 571, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:37554781-37594792

Links

ENSG00000180479 ∙ NCBI:51276 ∙ ∙ HGNC:25000 ∙ Uniprot:Q7Z3V5 ∙ 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 ZNF571 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF571 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	1	1	48
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	1	1

Variants in ZNF571

This is a list of pathogenic ClinVar variants found in the ZNF571 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-37564620-T-G		not specified	Uncertain significance (Nov 09, 2022)
19-37564658-C-G		not specified	Uncertain significance (Sep 06, 2022)
19-37564675-G-A		not specified	Uncertain significance (Aug 12, 2022)
19-37564722-C-T		not specified	Uncertain significance (Nov 16, 2022)
19-37564726-T-C		not specified	Uncertain significance (Jun 22, 2021)
19-37564753-C-G		not specified	Uncertain significance (Nov 15, 2021)
19-37564779-C-T		not specified	Uncertain significance (Oct 26, 2021)
19-37564807-G-A		not specified	Uncertain significance (Mar 20, 2024)
19-37564867-G-T		not specified	Uncertain significance (Jan 04, 2022)
19-37564873-C-T		not specified	Uncertain significance (Feb 01, 2023)
19-37564974-C-T		not specified	Uncertain significance (Aug 10, 2021)
19-37564989-C-A		not specified	Uncertain significance (Sep 14, 2022)
19-37565002-A-G		not specified	Uncertain significance (Dec 19, 2022)
19-37565034-T-G		not specified	Uncertain significance (Jul 11, 2023)
19-37565056-G-A		not specified	Uncertain significance (Sep 21, 2023)
19-37565194-T-C		not specified	Uncertain significance (Oct 18, 2021)
19-37565225-A-C		not specified	Uncertain significance (Jan 24, 2024)
19-37565256-T-C		not specified	Uncertain significance (Sep 20, 2023)
19-37565268-C-G		not specified	Uncertain significance (Dec 06, 2021)
19-37565308-G-A		not specified	Uncertain significance (May 04, 2022)
19-37565311-A-G		not specified	Uncertain significance (Dec 28, 2022)
19-37565313-A-C		not specified	Uncertain significance (Dec 13, 2021)
19-37565323-C-T		not specified	Uncertain significance (Feb 09, 2023)
19-37565412-T-C		not specified	Uncertain significance (Jul 05, 2023)
19-37565472-C-T			Benign (Aug 03, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF571	protein_coding	protein_coding	ENST00000328550	3	39990

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.57e-12	0.0729	125451	0	296	125747	0.00118

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.270	334	320	1.04	0.0000154	4064
Missense in Polyphen		163	153.88	1.0592		1945
Synonymous	-0.858	115	104	1.11	0.00000471	1049
Loss of Function	0.400	19	21.0	0.906	9.75e-7	318

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00269	0.00269
Ashkenazi Jewish	0.000917	0.000794
East Asian	0.00103	0.000653
Finnish	0.00	0.00
European (Non-Finnish)	0.000389	0.000369
Middle Eastern	0.00103	0.000653
South Asian	0.00528	0.00521
Other	0.000828	0.000815

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: 0.761
• rvis_EVS: 1.47
• rvis_percentile_EVS: 95.28

Haploinsufficiency Scores

• pHI: 0.255
• hipred: N
• hipred_score: 0.112
• ghis: 0.526

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.129

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Biological process: regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA binding;metal ion binding