ZNF821

zinc finger protein 821, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:71859680-71895336

Links

ENSG00000102984 ∙ NCBI:55565 ∙ ∙ HGNC:28043 ∙ Uniprot:O75541 ∙ 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 ZNF821 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF821 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in ZNF821

This is a list of pathogenic ClinVar variants found in the ZNF821 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-71860058-T-A		not specified	Uncertain significance (Jul 26, 2023)
16-71860103-T-C		not specified	Uncertain significance (Jun 29, 2022)
16-71860126-T-A		not specified	Uncertain significance (Feb 01, 2023)
16-71860318-G-A		not specified	Likely benign (Mar 07, 2024)
16-71860365-T-C		not specified	Uncertain significance (Oct 05, 2023)
16-71860517-A-G		not specified	Uncertain significance (Dec 08, 2023)
16-71860523-C-T		not specified	Uncertain significance (Dec 13, 2022)
16-71860587-C-G		not specified	Uncertain significance (Nov 06, 2023)
16-71860616-C-A		not specified	Uncertain significance (Aug 08, 2023)
16-71860628-A-T		not specified	Uncertain significance (Dec 20, 2021)
16-71861807-C-T		not specified	Uncertain significance (Sep 08, 2023)
16-71861900-C-G		not specified	Uncertain significance (Aug 30, 2022)
16-71864155-T-C		not specified	Uncertain significance (Apr 08, 2023)
16-71864199-T-C		not specified	Uncertain significance (Nov 14, 2023)
16-71864910-T-G		not specified	Uncertain significance (Aug 04, 2023)
16-71867941-T-C		not specified	Uncertain significance (Dec 15, 2023)
16-71867945-T-C		not specified	Uncertain significance (Sep 14, 2023)
16-71867971-C-T		not specified	Uncertain significance (Dec 13, 2023)
16-71867975-G-C		not specified	Uncertain significance (Jan 20, 2023)
16-71867995-G-A		not specified	Uncertain significance (Mar 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF821	protein_coding	protein_coding	ENST00000425432	6	35657

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00279	0.995	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.99	169	259	0.653	0.0000176	2705
Missense in Polyphen		73	138.54	0.52691		1254
Synonymous	0.128	91	92.6	0.983	0.00000510	823
Loss of Function	2.64	8	21.1	0.379	0.00000140	200

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000203	0.000203
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.460
• rvis_EVS: -0.18
• rvis_percentile_EVS: 39.95

Haploinsufficiency Scores

• pHI: 0.168
• hipred: Y
• hipred_score: 0.625
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.854

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp821

Gene ontology

• Biological process: positive regulation of transcription by RNA polymerase II
• Cellular component: nucleoplasm
• Molecular function: DNA-binding transcription factor activity;protein binding;transcription regulatory region DNA binding;metal ion binding