ZNF579

zinc finger protein 579, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:55576774-55580848

Links

ENSG00000218891 ∙ NCBI:163033 ∙ ∙ HGNC:26646 ∙ Uniprot:Q8NAF0 ∙ 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 ZNF579 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF579 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			32			32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	0	0

Variants in ZNF579

This is a list of pathogenic ClinVar variants found in the ZNF579 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-55577991-C-T		not specified	Uncertain significance (May 24, 2023)
19-55578091-G-A		not specified	Uncertain significance (Mar 30, 2024)
19-55578149-T-A		not specified	Uncertain significance (Dec 19, 2023)
19-55578177-G-A		not specified	Uncertain significance (Jun 22, 2024)
19-55578183-G-A		not specified	Uncertain significance (Jan 05, 2022)
19-55578241-G-C		not specified	Uncertain significance (Oct 27, 2022)
19-55578505-C-A		not specified	Uncertain significance (Jan 30, 2024)
19-55578539-C-A		not specified	Uncertain significance (Dec 02, 2021)
19-55578558-G-A		not specified	Uncertain significance (Jun 26, 2023)
19-55578586-C-T		not specified	Uncertain significance (Oct 26, 2021)
19-55578595-G-A		not specified	Uncertain significance (May 14, 2024)
19-55578645-G-A		not specified	Uncertain significance (Aug 23, 2021)
19-55578660-G-A		not specified	Uncertain significance (Dec 13, 2022)
19-55578836-C-G		not specified	Uncertain significance (Dec 02, 2022)
19-55578853-G-C		not specified	Uncertain significance (Apr 22, 2022)
19-55578880-C-T		not specified	Uncertain significance (Apr 09, 2024)
19-55578921-G-T		not specified	Uncertain significance (Jun 22, 2021)
19-55578993-C-T		not specified	Uncertain significance (Feb 12, 2024)
19-55578997-C-T		not specified	Uncertain significance (Sep 22, 2023)
19-55579033-C-A		not specified	Uncertain significance (Oct 20, 2023)
19-55579047-T-G		not specified	Uncertain significance (Jan 31, 2023)
19-55579093-C-A		not specified	Uncertain significance (Jan 23, 2024)
19-55579099-T-G		not specified	Uncertain significance (Jun 11, 2021)
19-55579122-G-A		not specified	Uncertain significance (Oct 05, 2023)
19-55579122-G-C		not specified	Uncertain significance (Jan 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF579	protein_coding	protein_coding	ENST00000325421	1	3313

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.839	0.161	115311	0	1	115312	0.00000434

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.46	149	261	0.571	0.0000208	3448
Missense in Polyphen		34	87.695	0.38771		1220
Synonymous	2.40	92	126	0.728	0.0000108	1270
Loss of Function	2.70	1	10.4	0.0963	6.29e-7	141

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000985	0.00000985
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.335
• ghis: 0.497

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.469

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp579

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;RNA binding;metal ion binding