ZNF229

zinc finger protein 229, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44417519-44448578

Links

ENSG00000278318NCBI:7772HGNC:13022Uniprot:Q9UJW7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF229 gene.

  • not_specified (138 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF229 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014518.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
127
clinvar
13
clinvar
140
nonsense
0
start loss
1
1
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 127 15 0
Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Intolerance Scores

loftool
0.773
rvis_EVS
1.25
rvis_percentile_EVS
93.48

Haploinsufficiency Scores

pHI
0.136
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0397

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

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