ZNF577

zinc finger protein 577, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:51804815-51890950

Links

ENSG00000161551 ∙ NCBI:84765 ∙ ∙ HGNC:28673 ∙ Uniprot:Q9BSK1 ∙ 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 ZNF577 gene.

• Inborn genetic diseases (25 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF577 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			22	3		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	3	0

Variants in ZNF577

This is a list of pathogenic ClinVar variants found in the ZNF577 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-51823818-G-A		not specified	Uncertain significance (Aug 08, 2022)
19-51823827-A-T		not specified	Uncertain significance (Nov 08, 2022)
19-51823848-G-A		not specified	Uncertain significance (Nov 08, 2022)
19-51823852-T-A		not specified	Uncertain significance (Oct 02, 2023)
19-51823986-T-C		not specified	Uncertain significance (Aug 19, 2023)
19-51824004-G-A		not specified	Uncertain significance (Dec 12, 2023)
19-51824026-T-C		not specified	Uncertain significance (Oct 05, 2023)
19-51824118-T-A		not specified	Uncertain significance (Nov 21, 2023)
19-51824135-T-G		not specified	Uncertain significance (Jan 30, 2024)
19-51824209-T-C		not specified	Likely benign (Feb 28, 2023)
19-51824257-C-T		not specified	Uncertain significance (Dec 15, 2023)
19-51824400-A-G		not specified	Likely benign (Jul 22, 2022)
19-51824479-C-T		not specified	Uncertain significance (Mar 14, 2023)
19-51824520-G-A		not specified	Uncertain significance (Dec 02, 2022)
19-51824568-A-T		not specified	Uncertain significance (Sep 07, 2022)
19-51824655-G-A		not specified	Uncertain significance (Sep 17, 2021)
19-51872598-A-C		not specified	Uncertain significance (Sep 16, 2021)
19-51872608-C-T		not specified	Uncertain significance (Jun 01, 2023)
19-51872722-G-A		not specified	Uncertain significance (Feb 28, 2023)
19-51872746-A-G		not specified	Uncertain significance (May 11, 2022)
19-51872779-A-T		not specified	Uncertain significance (Aug 02, 2022)
19-51873023-C-T		not specified	Uncertain significance (Apr 07, 2022)
19-51873090-G-C		not specified	Uncertain significance (Nov 17, 2022)
19-51873112-G-A		not specified	Uncertain significance (Dec 21, 2023)
19-51873131-C-A		not specified	Uncertain significance (Apr 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF577	protein_coding	protein_coding	ENST00000301399	4	35149

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000426	0.859	125676	0	70	125746	0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0466	256	258	0.992	0.0000127	3165
Missense in Polyphen		67	64.604	1.0371		834
Synonymous	-0.198	95	92.6	1.03	0.00000466	901
Loss of Function	1.38	9	14.7	0.611	7.03e-7	202

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000935	0.000934
Ashkenazi Jewish	0.00159	0.00159
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000196	0.000193
Middle Eastern	0.0000544	0.0000544
South Asian	0.000261	0.000261
Other	0.000164	0.000163

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: 0.901
• rvis_EVS: 1.49
• rvis_percentile_EVS: 95.36

Haploinsufficiency Scores

• pHI: 0.107
• hipred: N
• hipred_score: 0.132
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.125

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
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;metal ion binding