ZNF710

zinc finger protein 710, the group of Zinc fingers C2H2-type|MicroRNA protein coding host genes

Basic information

Region (hg38): 15:90001324-90082206

Links

ENSG00000140548NCBI:374655HGNC:25352Uniprot:Q8N1W2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF710 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF710 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
clinvar
1
missense
31
clinvar
1
clinvar
32
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 31 2 0

Variants in ZNF710

This is a list of pathogenic ClinVar variants found in the ZNF710 region.

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

Position Type Phenotype Significance ClinVar
15-90067207-G-A not specified Uncertain significance (May 17, 2023)2547913
15-90067219-G-C not specified Uncertain significance (Dec 27, 2023)3197930
15-90067280-G-A not specified Uncertain significance (May 05, 2023)2510605
15-90067355-G-C not specified Uncertain significance (Jul 14, 2021)2391600
15-90067433-C-T not specified Uncertain significance (Nov 21, 2022)2328980
15-90067471-G-A not specified Uncertain significance (Mar 13, 2023)2495682
15-90067486-G-A not specified Uncertain significance (Jun 24, 2022)2297357
15-90067550-C-T not specified Uncertain significance (Sep 29, 2022)2393720
15-90067556-C-A not specified Uncertain significance (Apr 23, 2024)2349558
15-90067573-G-A not specified Uncertain significance (May 03, 2023)2541626
15-90067578-C-T Likely benign (Feb 01, 2023)2645701
15-90067603-G-A not specified Uncertain significance (Jun 09, 2022)2347902
15-90067633-C-T not specified Uncertain significance (Aug 13, 2021)2384776
15-90067642-C-T not specified Uncertain significance (Mar 24, 2023)2529292
15-90067654-C-T not specified Uncertain significance (Apr 08, 2023)2516529
15-90067660-C-T not specified Uncertain significance (Feb 10, 2022)2276303
15-90067682-T-G Likely benign (Feb 01, 2023)2645702
15-90067687-G-A not specified Uncertain significance (May 15, 2024)3259321
15-90067712-C-T not specified Uncertain significance (Feb 22, 2024)3197926
15-90067802-A-C not specified Uncertain significance (Sep 20, 2023)3197927
15-90067813-C-A not specified Uncertain significance (Jul 11, 2023)2610617
15-90067817-G-C not specified Uncertain significance (Feb 27, 2023)2467793
15-90067876-G-A not specified Uncertain significance (Feb 05, 2024)3197928
15-90067892-G-A not specified Uncertain significance (May 13, 2024)3259323
15-90067900-G-A not specified Uncertain significance (May 18, 2022)2290388

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZNF710protein_codingprotein_codingENST00000268154 480815
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9900.00997125737061257430.0000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.423054490.6790.00003104375
Missense in Polyphen110217.310.506192115
Synonymous0.4511992070.9600.00001641273
Loss of Function4.02222.70.08820.00000114249

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001890.000183
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001770.0000176
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

pRec
0.115

Intolerance Scores

loftool
0.269
rvis_EVS
-0.71
rvis_percentile_EVS
14.78

Haploinsufficiency Scores

pHI
0.156
hipred
Y
hipred_score
0.662
ghis
0.469

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.215

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Zfp710
Phenotype

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