ZNF8

zinc finger protein 8, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:58278955-58302791

Links

ENSG00000278129 ∙ NCBI:7554 ∙ OMIM:194532 ∙ HGNC:13154 ∙ Uniprot:P17098 ∙ 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 ZNF8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF8 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				1		1
missense			34	1		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	2	0

Variants in ZNF8

This is a list of pathogenic ClinVar variants found in the ZNF8 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-58279140-G-A		not specified	Uncertain significance (Jan 22, 2024)
19-58279143-T-G		not specified	Uncertain significance (Aug 12, 2021)
19-58285717-G-C		not specified	Uncertain significance (Feb 13, 2024)
19-58285838-C-G		not specified	Uncertain significance (Feb 23, 2023)
19-58294142-G-A		not specified	Uncertain significance (Feb 02, 2022)
19-58294151-G-C		not specified	Uncertain significance (Jun 26, 2023)
19-58294233-A-G		not specified	Uncertain significance (Mar 25, 2024)
19-58294281-A-G		not specified	Uncertain significance (Apr 18, 2023)
19-58294338-G-C		not specified	Uncertain significance (Aug 03, 2022)
19-58294359-T-C		not specified	Uncertain significance (Jan 04, 2022)
19-58294412-A-G		not specified	Uncertain significance (Aug 16, 2022)
19-58294413-C-T		not specified	Uncertain significance (May 04, 2022)
19-58294418-G-A		not specified	Uncertain significance (May 09, 2024)
19-58294493-G-A		not specified	Uncertain significance (Apr 27, 2022)
19-58294520-T-A		not specified	Uncertain significance (May 24, 2023)
19-58294574-C-T		not specified	Uncertain significance (Aug 08, 2022)
19-58294611-A-G		not specified	Uncertain significance (Jan 26, 2022)
19-58294671-A-G		not specified	Uncertain significance (Sep 16, 2021)
19-58294770-C-T		not specified	Uncertain significance (May 16, 2023)
19-58294815-C-A		not specified	Uncertain significance (Aug 17, 2021)
19-58294867-C-T			Likely benign (Jan 01, 2023)
19-58295057-C-T		not specified	Uncertain significance (Feb 14, 2023)
19-58295058-G-T		not specified	Uncertain significance (Apr 25, 2022)
19-58295066-G-A		not specified	Uncertain significance (May 15, 2024)
19-58295079-C-T		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor. May modulate BMP and TGF-beta signal transduction, through its interaction with SMAD proteins. {ECO:0000250|UniProtKB:Q8BGV5}.

Recessive Scores

• pRec: 0.0959

Intolerance Scores

• loftool: 0.542
• rvis_EVS: -0.57
• rvis_percentile_EVS: 18.9

Haploinsufficiency Scores

• pHI: 0.188

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.322

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp128

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;BMP signaling pathway
• Cellular component: nucleus
• Molecular function: DNA binding;zinc ion binding