ZNF823

zinc finger protein 823, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:11721265-11739009

Links

ENSG00000197933 ∙ NCBI:55552 ∙ ∙ HGNC:30936 ∙ Uniprot:P16415 ∙ 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 ZNF823 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF823 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		1
missense			34			34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	1	0

Variants in ZNF823

This is a list of pathogenic ClinVar variants found in the ZNF823 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-11721738-T-C		not specified	Uncertain significance (Jan 27, 2025)
19-11721748-G-A		not specified	Uncertain significance (Dec 10, 2024)
19-11721775-C-T		not specified	Uncertain significance (Apr 08, 2024)
19-11721834-G-C		not specified	Uncertain significance (Feb 24, 2025)
19-11721931-C-A		not specified	Uncertain significance (Jan 08, 2025)
19-11722051-C-T		not specified	Uncertain significance (Nov 08, 2022)
19-11722065-T-C		not specified	Uncertain significance (Aug 11, 2022)
19-11722207-G-C		not specified	Uncertain significance (Jan 19, 2025)
19-11722228-C-A		not specified	Uncertain significance (Oct 26, 2021)
19-11722239-C-T		not specified	Uncertain significance (Feb 02, 2022)
19-11722249-C-T		not specified	Uncertain significance (Dec 17, 2023)
19-11722264-C-T		not specified	Uncertain significance (Jan 27, 2022)
19-11722270-C-A		not specified	Uncertain significance (Jun 24, 2022)
19-11722357-A-G		not specified	Uncertain significance (Jan 26, 2025)
19-11722386-G-A		not specified	Uncertain significance (Apr 25, 2022)
19-11722422-T-A		not specified	Uncertain significance (Oct 29, 2021)
19-11722506-C-A		not specified	Uncertain significance (Feb 28, 2024)
19-11722554-G-A		not specified	Uncertain significance (Dec 06, 2023)
19-11722560-C-T		not specified	Uncertain significance (Sep 17, 2021)
19-11722588-G-T		not specified	Uncertain significance (Jun 05, 2023)
19-11722627-G-A		not specified	Uncertain significance (Feb 27, 2024)
19-11722731-C-G		not specified	Uncertain significance (Jan 22, 2025)
19-11722744-G-C		not specified	Uncertain significance (Jul 17, 2023)
19-11722794-G-A		not specified	Uncertain significance (Nov 15, 2024)
19-11722794-G-T		not specified	Uncertain significance (Dec 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF823	protein_coding	protein_coding	ENST00000341191	4	17745

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.376	0.582	119286	0	16	119302	0.0000671

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.82	235	328	0.717	0.0000166	4066
Missense in Polyphen		81	125.78	0.64398		1682
Synonymous	-0.0852	117	116	1.01	0.00000620	1073
Loss of Function	1.61	1	4.80	0.208	2.04e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000747	0.000747
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.751
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.91

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.218
• ghis: 0.492

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.905

Gene Damage Prediction

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

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