ZNF571

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

Basic information

Region (hg38): 19:37554782-37594792

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.

• not_specified (95 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_000016536.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			93	2	1	96
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	93	2	1

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