ZNF816

zinc finger protein 816, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:52949378-52962911

Previous symbols: [ "ZNF816A" ]

Links

ENSG00000180257 ∙ NCBI:125893 ∙ ∙ HGNC:26995 ∙ Uniprot:Q0VGE8 ∙ 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 ZNF816 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF816 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				3		3
missense			34	4		38
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	8	0

Variants in ZNF816

This is a list of pathogenic ClinVar variants found in the ZNF816 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-52949838-C-T		not specified	Uncertain significance (May 05, 2022)
19-52949856-T-G		not specified	Uncertain significance (Mar 01, 2023)
19-52949877-T-C		not specified	Uncertain significance (Nov 30, 2022)
19-52949979-C-G		not specified	Uncertain significance (Dec 12, 2023)
19-52950000-G-C		not specified	Uncertain significance (Jan 23, 2023)
19-52950010-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-52950012-G-C		not specified	Uncertain significance (Nov 14, 2023)
19-52950042-C-G		not specified	Likely benign (May 11, 2022)
19-52950161-T-G		not specified	Uncertain significance (Jan 16, 2024)
19-52950232-C-G		not specified	Uncertain significance (Jun 05, 2023)
19-52950238-C-T		not specified	Uncertain significance (Aug 19, 2021)
19-52950256-T-G		not specified	Uncertain significance (Jul 27, 2022)
19-52950268-G-A		not specified	Uncertain significance (Nov 14, 2023)
19-52950277-G-C			Likely benign (Jul 26, 2018)
19-52950300-C-T		not specified	Uncertain significance (Nov 16, 2021)
19-52950392-A-G			Likely benign (Jan 01, 2023)
19-52950404-T-C			Likely benign (Jan 01, 2023)
19-52950472-G-A		not specified	Uncertain significance (Apr 26, 2024)
19-52950480-T-C		not specified	Uncertain significance (Oct 02, 2023)
19-52950517-T-G		not specified	Uncertain significance (May 06, 2024)
19-52950552-C-T		not specified	Uncertain significance (Jan 03, 2022)
19-52950553-G-A		not specified	Uncertain significance (Nov 17, 2023)
19-52950567-T-G		not specified	Uncertain significance (Dec 27, 2023)
19-52950609-A-G		not specified	Uncertain significance (Jan 29, 2024)
19-52950625-G-C		not specified	Uncertain significance (Oct 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF816	protein_coding	protein_coding	ENST00000357666	3	35777

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000142	0.251	125681	0	56	125737	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0348	338	336	1.01	0.0000171	4335
Missense in Polyphen		93	105.24	0.88367		1545
Synonymous	-0.889	124	112	1.11	0.00000529	1128
Loss of Function	-0.684	5	3.60	1.39	1.52e-7	45

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000896	0.000893
Ashkenazi Jewish	0.00	0.00
East Asian	0.00160	0.00158
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.00160	0.00158
South Asian	0.00	0.00
Other	0.000168	0.000163

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• rvis_EVS: 2.05
• rvis_percentile_EVS: 97.76

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.509

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

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