ZNF581

zinc finger protein 581, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:55635459-55645623

Links

ENSG00000171425 ∙ NCBI:51545 ∙ ∙ HGNC:25017 ∙ Uniprot:Q9P0T4 ∙ 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 ZNF581 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF581 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in ZNF581

This is a list of pathogenic ClinVar variants found in the ZNF581 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-55642584-G-C		not specified	Uncertain significance (Feb 10, 2022)
19-55642599-A-C		not specified	Uncertain significance (Jul 27, 2023)
19-55642648-C-T		not specified	Uncertain significance (Apr 18, 2023)
19-55642692-C-T		not specified	Uncertain significance (Aug 06, 2021)
19-55642707-G-A		not specified	Uncertain significance (Nov 27, 2023)
19-55642752-C-A			Benign (Jul 13, 2018)
19-55642888-A-G		not specified	Uncertain significance (Apr 22, 2022)
19-55642944-G-A		not specified	Uncertain significance (Apr 06, 2024)
19-55642963-G-A		not specified	Uncertain significance (Mar 28, 2023)
19-55642981-G-A		not specified	Uncertain significance (Aug 21, 2023)
19-55644639-C-T		not specified	Uncertain significance (May 03, 2023)
19-55644641-C-T		not specified	Uncertain significance (Oct 17, 2023)
19-55644644-C-T		not specified	Uncertain significance (Dec 19, 2023)
19-55644645-G-A		not specified	Uncertain significance (Apr 20, 2023)
19-55644681-C-G		not specified	Uncertain significance (Nov 03, 2023)
19-55644710-C-T		not specified	Uncertain significance (May 18, 2022)
19-55644720-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-55644868-G-A		not specified	Uncertain significance (Jan 09, 2024)
19-55644948-G-A		not specified	Uncertain significance (Jan 08, 2024)
19-55644950-G-T		not specified	Uncertain significance (May 10, 2024)
19-55644965-C-T		not specified	Uncertain significance (Feb 22, 2024)
19-55644977-A-G		not specified	Uncertain significance (Mar 28, 2023)
19-55645014-C-T		not specified	Uncertain significance (Dec 27, 2023)
19-55645023-C-T		not specified	Uncertain significance (Apr 09, 2024)
19-55645025-C-T		not specified	Uncertain significance (Mar 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF581	protein_coding	protein_coding	ENST00000587252	1	10164

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0945	0.779	125736	0	7	125743	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.922	103	133	0.775	0.00000890	1257
Missense in Polyphen		24	33.703	0.71211		350
Synonymous	0.268	51	53.5	0.953	0.00000345	420
Loss of Function	1.16	2	4.73	0.423	2.84e-7	51

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000548	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000266	0.0000264
Middle Eastern	0.0000548	0.0000544
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.431
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.07

Haploinsufficiency Scores

• pHI: 0.157
• hipred: N
• hipred_score: 0.334
• ghis: 0.620

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.534

Gene Damage Prediction

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

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;protein binding;metal ion binding