ZNF813

zinc finger protein 813, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:53467733-53496255

Links

ENSG00000198346 ∙ NCBI:126017 ∙ ∙ HGNC:33257 ∙ Uniprot:Q6ZN06 ∙ 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 ZNF813 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF813 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			44	2	1	47
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	3	1

Variants in ZNF813

This is a list of pathogenic ClinVar variants found in the ZNF813 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-53486650-G-T		not specified	Uncertain significance (Feb 15, 2023)
19-53486660-T-C		not specified	Uncertain significance (Jun 17, 2024)
19-53486698-G-C		not specified	Uncertain significance (Jan 16, 2024)
19-53490375-A-C		not specified	Uncertain significance (Oct 06, 2022)
19-53490378-T-C		not specified	Uncertain significance (Mar 02, 2023)
19-53490429-G-C		not specified	Uncertain significance (Jan 29, 2024)
19-53490465-A-G			Benign (Feb 01, 2023)
19-53490492-T-G		not specified	Uncertain significance (Apr 20, 2024)
19-53490594-G-A		not specified	Uncertain significance (Jun 07, 2024)
19-53490619-G-T		not specified	Uncertain significance (Apr 06, 2023)
19-53490650-C-T		not specified	Uncertain significance (Feb 28, 2023)
19-53490659-A-G		not specified	Uncertain significance (Jan 16, 2024)
19-53490686-C-A		not specified	Uncertain significance (Aug 13, 2021)
19-53490701-C-G		not specified	Likely benign (Oct 12, 2021)
19-53490768-G-T		not specified	Likely benign (Jul 08, 2022)
19-53490781-G-T		not specified	Uncertain significance (Dec 15, 2022)
19-53490782-C-T		not specified	Uncertain significance (Jan 17, 2024)
19-53490788-A-G		not specified	Uncertain significance (May 11, 2022)
19-53490792-A-G		not specified	Uncertain significance (Sep 27, 2021)
19-53490821-C-T		not specified	Uncertain significance (Sep 20, 2023)
19-53490822-G-A		not specified	Uncertain significance (Nov 10, 2022)
19-53490904-T-A		not specified	Uncertain significance (Apr 01, 2024)
19-53490945-T-C		not specified	Uncertain significance (Jan 16, 2024)
19-53490992-C-T		not specified	Uncertain significance (Aug 30, 2022)
19-53490999-G-A		not specified	Uncertain significance (Mar 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF813	protein_coding	protein_coding	ENST00000396403	3	35962

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.636	0.338	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.647	366	333	1.10	0.0000182	4120
Missense in Polyphen		80	79.537	1.0058		1162
Synonymous	-0.926	127	114	1.11	0.00000600	1082
Loss of Function	1.67	0	3.24	0.00	1.38e-7	35

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	0.00	0.00
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.

Intolerance Scores

• loftool: 0.896
• rvis_EVS: 1.36
• rvis_percentile_EVS: 94.44

Haploinsufficiency Scores

• pHI: 0.0812
• hipred: N
• hipred_score: 0.112
• ghis: 0.467

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	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