ZNF782

zinc finger protein 782, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 9:96816269-96875623

Links

ENSG00000196597NCBI:158431HGNC:33110Uniprot:Q6ZMW2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF782 gene.

  • not_specified (82 variants)
  • not_provided (2 variants)
  • Mycotic_Aneurysm,_Intracranial (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF782 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001001662.3. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
79
clinvar
4
clinvar
83
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 79 5 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZNF782protein_codingprotein_codingENST00000481138 459152
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
4.21e-100.56212554102061257470.000819
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2543413540.9620.00001694673
Missense in Polyphen99103.830.953441360
Synonymous0.4881201270.9450.000006221212
Loss of Function1.261824.70.7280.00000129374

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002240.00224
Ashkenazi Jewish0.000.00
East Asian0.0002720.000272
Finnish0.001200.00120
European (Non-Finnish)0.0007590.000756
Middle Eastern0.0002720.000272
South Asian0.0008190.000817
Other0.0008170.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.;
Pathway
Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

loftool
0.803
rvis_EVS
1.18
rvis_percentile_EVS
92.79

Haploinsufficiency Scores

pHI
0.139
hipred
N
hipred_score
0.112
ghis
0.472

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0940

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
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