ZNF347

zinc finger protein 347, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:53124072-53159075

Links

ENSG00000197937NCBI:84671HGNC:16447Uniprot:Q96SE7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF347 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF347 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
0
missense
70
clinvar
5
clinvar
75
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 70 5 0

Variants in ZNF347

This is a list of pathogenic ClinVar variants found in the ZNF347 region.

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

Position Type Phenotype Significance ClinVar
19-53140329-G-C not specified Uncertain significance (Jan 10, 2022)2271735
19-53140364-C-T not specified Uncertain significance (Dec 09, 2023)3195334
19-53140463-C-T not specified Likely benign (May 10, 2022)2397417
19-53140468-T-A not specified Uncertain significance (Nov 03, 2023)3195333
19-53140493-T-C not specified Uncertain significance (Feb 08, 2023)2458508
19-53140570-G-T not specified Uncertain significance (Oct 12, 2022)2318230
19-53140606-T-C not specified Uncertain significance (Sep 22, 2023)3195331
19-53140666-C-T not specified Uncertain significance (Nov 18, 2022)3195330
19-53140696-C-T not specified Uncertain significance (Feb 27, 2025)3820607
19-53140715-C-G not specified Uncertain significance (Dec 09, 2023)3195328
19-53140762-G-A not specified Uncertain significance (Jan 23, 2024)3195327
19-53140765-T-C not specified Likely benign (Oct 12, 2024)3475479
19-53140768-C-T not specified Uncertain significance (Jan 18, 2025)3820605
19-53140787-A-T not specified Uncertain significance (Sep 22, 2023)3195326
19-53140813-C-T not specified Likely benign (Dec 21, 2022)2355771
19-53140814-G-C not specified Uncertain significance (Jul 05, 2024)2231962
19-53140816-T-C not specified Uncertain significance (Jun 22, 2024)3335571
19-53140823-C-T not specified Uncertain significance (Jul 16, 2024)3475473
19-53140826-G-A not specified Uncertain significance (Sep 26, 2022)2367427
19-53140871-A-G not specified Uncertain significance (Jan 16, 2025)3820604
19-53140918-T-C not specified Uncertain significance (Feb 27, 2025)3820606
19-53140919-G-A not specified Uncertain significance (Dec 06, 2022)2333651
19-53140931-C-A not specified Uncertain significance (Apr 08, 2024)3335564
19-53140943-C-T not specified Uncertain significance (Nov 07, 2022)3195325
19-53140969-G-A not specified Uncertain significance (Mar 27, 2023)2522529

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZNF347protein_codingprotein_codingENST00000452676 435004
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00005460.2721256720601257320.000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.214974261.170.00002145535
Missense in Polyphen139117.021.18781601
Synonymous-0.1481531511.020.000007571509
Loss of Function-0.30765.241.152.23e-759

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001210.000121
Ashkenazi Jewish0.0006940.000695
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0003970.000396
Middle Eastern0.000.00
South Asian0.0001310.000131
Other0.0001640.000163

dbNSFP

Source: dbNSFP

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

Intolerance Scores

loftool
0.954
rvis_EVS
-0.55
rvis_percentile_EVS
19.93

Haploinsufficiency Scores

pHI
0.0611
hipred
N
hipred_score
0.112
ghis
0.557

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.141

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