ZNF814

zinc finger protein 814, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57848731-57889074

Links

ENSG00000204514 ∙ NCBI:730051 ∙ ∙ HGNC:33258 ∙ Uniprot:B7Z6K7 ∙ 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 ZNF814 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF814 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				4		4
missense			86	2		88
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			43	2	5	50
Total	0	0	129	8	5

Variants in ZNF814

This is a list of pathogenic ClinVar variants found in the ZNF814 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57850052-T-C		not specified	Likely benign (Sep 27, 2021)
19-57850054-C-G		not specified	Uncertain significance (Nov 06, 2024)
19-57856141-T-C		not specified	Uncertain significance (Apr 04, 2023)
19-57856180-G-A		not specified	Uncertain significance (Mar 07, 2023)
19-57856191-C-T		not specified	Uncertain significance (Dec 05, 2022)
19-57856221-A-C		not specified	Uncertain significance (Oct 02, 2023)
19-57858627-C-T		not specified	Uncertain significance (Jun 29, 2023)
19-57858632-C-A		not specified	Uncertain significance (Oct 01, 2024)
19-57858699-T-C		not specified	Uncertain significance (Jan 20, 2025)
19-57858788-G-A		not specified	Uncertain significance (Jun 29, 2023)
19-57858797-T-G		not specified	Uncertain significance (May 25, 2022)
19-57858835-G-C		not specified	Uncertain significance (Dec 21, 2022)
19-57858849-A-G		not specified	Uncertain significance (Mar 25, 2024)
19-57858879-C-T		not specified	Uncertain significance (Nov 21, 2024)
19-57858893-C-T		not specified	Uncertain significance (Jan 30, 2024)
19-57858894-G-A			Benign (Aug 22, 2018)
19-57858929-C-T		not specified	Likely benign (Mar 11, 2022)
19-57858986-G-A		not specified	Uncertain significance (Sep 24, 2024)
19-57859040-A-G		not specified	Uncertain significance (Feb 26, 2025)
19-57859044-A-G		not specified	Uncertain significance (Oct 29, 2024)
19-57859061-C-T		not specified	Uncertain significance (Sep 29, 2023)
19-57859062-G-A		not specified	Uncertain significance (May 23, 2023)
19-57859086-A-G		not specified	Uncertain significance (Mar 01, 2023)
19-57859164-G-C		not specified	Uncertain significance (Nov 14, 2024)
19-57859177-C-A		not specified	Likely benign (Jan 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF814	protein_coding	protein_coding	ENST00000435989	3	40344

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0448	0.686	125721	0	5	125726	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.923	486	432	1.12	0.0000208	5689
Missense in Polyphen		165	158.79	1.0391		2072
Synonymous	-0.880	162	148	1.09	0.00000733	1467
Loss of Function	0.568	2	3.08	0.650	1.32e-7	33

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.29
• rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.583

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.208

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