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.

not_specified (76 variants)
not_provided (1 variants)

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. These statistics are base on transcript: NM_000021089.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			73 clinvar	3 clinvar		76
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	73	5	0

Loading clinvar variants...

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
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
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
Phenotype

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