ZNF571

protein-coding

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

Gene summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_016536.5

Inheritance

—

ClinVar variants

U:103B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr19:37,554,782-37,594,792

External References & Databases

Ensembl (ENSG00000180479)

Transcript & Mutation Effects

hg38 • Region Span ~40.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNF571 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 104

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016536.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			102 clinvar	3 clinvar	1 clinvar	106
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	103	3	1	107

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016536.5	RefSeq	NP_057620.3	3	MANE Select
ENST00000451802.7	Ensembl	ENSP00000392638.1	3	MANE Select
NM_001290314.2	RefSeq	NP_001277243.1	3	Standard
NM_001321272.2	RefSeq	NP_001308201.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription

Biological Process

regulation of transcription, DNA-templated

Molecular Function

DNA binding
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000328550
Coding exons: 3
Length: 39990
Individuals with no LoFs: 125451
Homozygous LoFs: 0
Heterozygous LoFs: 296
Defined: 125747
p: 0.00118

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.270	334	320	1.04	0.0000154	4064
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0012	0.0012	notable
Latino/Admixed American	0.0015	0.0014	notable
Ashkenazi Jewish	0.00092	0.00079	rare
East Asian	0.0010	0.00065	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00039	0.00037	rare
South Asian	0.0053	0.0052	notable
Other	0.00083	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

LoFtool: 0.761
RVIS EVS: 1.47
RVIS percentile EVS: 95.28

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.129

Gene Damage Prediction

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