ZNF843

zinc finger protein 843, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:31432593-31443160

Links

ENSG00000176723 ∙ NCBI:283933 ∙ ∙ HGNC:28710 ∙ Uniprot:Q8N446 ∙ 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 ZNF843 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF843 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			40	2		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	2	0

Variants in ZNF843

This is a list of pathogenic ClinVar variants found in the ZNF843 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-31435819-T-C		not specified	Uncertain significance (Feb 15, 2023)
16-31435851-A-C		not specified	Uncertain significance (Jan 09, 2025)
16-31435867-C-T		not specified	Uncertain significance (Aug 20, 2024)
16-31435873-C-A		not specified	Uncertain significance (Jun 27, 2023)
16-31435880-G-C		not specified	Uncertain significance (Nov 15, 2021)
16-31435885-G-C		not specified	Uncertain significance (Apr 16, 2024)
16-31435901-C-A		not specified	Uncertain significance (Feb 14, 2023)
16-31435921-C-T		not specified	Uncertain significance (Jan 18, 2025)
16-31435937-C-A		not specified	Likely benign (Jan 26, 2023)
16-31435945-C-G		not specified	Uncertain significance (Oct 16, 2024)
16-31435948-G-A		not specified	Uncertain significance (Aug 20, 2024)
16-31435954-C-G		not specified	Uncertain significance (Jul 06, 2021)
16-31435957-T-C		not specified	Uncertain significance (Jan 09, 2024)
16-31435967-C-G		not specified	Uncertain significance (Jan 04, 2024)
16-31436021-G-A		not specified	Uncertain significance (Nov 08, 2022)
16-31436041-C-T		not specified	Uncertain significance (Sep 23, 2023)
16-31436045-G-A		not specified	Uncertain significance (Dec 17, 2023)
16-31436053-G-A		not specified	Uncertain significance (Mar 02, 2023)
16-31436074-G-A		not specified	Uncertain significance (Mar 17, 2023)
16-31436093-C-A		not specified	Uncertain significance (Dec 13, 2022)
16-31436111-C-T		not specified	Uncertain significance (Jan 17, 2025)
16-31436126-C-T		not specified	Uncertain significance (Oct 28, 2024)
16-31436168-T-A		not specified	Uncertain significance (Feb 27, 2024)
16-31436170-A-G		not specified	Uncertain significance (Jan 23, 2025)
16-31436189-G-A		not specified	Uncertain significance (Jun 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF843	protein_coding	protein_coding	ENST00000315678	1	8778

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	152	193	0.787	0.0000129	2170
Missense in Polyphen		20	13.69	1.4609		146
Synonymous	1.93	65	88.1	0.738	0.00000645	794
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.57
• rvis_percentile_EVS: 81.78

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.336

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Molecular function: nucleic acid binding;protein binding;metal ion binding