ZNF805

zinc finger protein 805, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57240631-57262728

Links

ENSG00000204524 ∙ NCBI:390980 ∙ ∙ HGNC:23272 ∙ Uniprot:Q5CZA5 ∙ 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 ZNF805 gene.

• Inborn genetic diseases (23 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF805 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			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	0

Variants in ZNF805

This is a list of pathogenic ClinVar variants found in the ZNF805 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57243927-C-T		not specified	Uncertain significance (Apr 07, 2022)
19-57248644-A-G		not specified	Uncertain significance (Dec 19, 2022)
19-57253079-A-G		not specified	Uncertain significance (May 30, 2023)
19-57253148-G-A		not specified	Likely benign (Feb 13, 2024)
19-57253267-C-T		not specified	Uncertain significance (Nov 02, 2021)
19-57253281-G-A		not specified	Uncertain significance (Aug 02, 2021)
19-57253316-G-A		not specified	Uncertain significance (Aug 16, 2021)
19-57253318-G-T		not specified	Uncertain significance (Oct 29, 2021)
19-57253335-A-G		not specified	Uncertain significance (Jun 24, 2022)
19-57253381-C-A		not specified	Uncertain significance (Aug 08, 2023)
19-57253411-G-A		not specified	Uncertain significance (Jan 31, 2023)
19-57253418-A-G		not specified	Uncertain significance (Dec 26, 2023)
19-57253445-A-G		not specified	Likely benign (Mar 22, 2023)
19-57253451-T-C		not specified	Uncertain significance (Sep 17, 2021)
19-57253465-C-T		not specified	Uncertain significance (Oct 22, 2021)
19-57253477-C-T		not specified	Uncertain significance (Nov 09, 2021)
19-57253631-A-G		not specified	Uncertain significance (Jun 23, 2023)
19-57253730-T-C		not specified	Uncertain significance (Jan 31, 2024)
19-57253925-A-G		not specified	Uncertain significance (Nov 30, 2022)
19-57253949-G-A		not specified	Uncertain significance (Aug 30, 2021)
19-57253969-G-A		not specified	Uncertain significance (Jul 06, 2021)
19-57254084-C-G		not specified	Uncertain significance (Mar 20, 2023)
19-57254219-G-A		not specified	Uncertain significance (Oct 05, 2023)
19-57254233-C-G		not specified	Uncertain significance (Feb 16, 2023)
19-57254468-G-A		not specified	Uncertain significance (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF805	protein_coding	protein_coding	ENST00000414468	4	14531

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.386	0.614	125724	1	23	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.51	257	334	0.768	0.0000175	4131
Missense in Polyphen		72	124.84	0.57675		1561
Synonymous	-1.45	145	124	1.17	0.00000633	1145
Loss of Function	3.40	5	22.4	0.224	0.00000131	288

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000300	0.000297
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000530	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000328	0.000294
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 1.22
• rvis_percentile_EVS: 93.14

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.252
• ghis: 0.414

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.276

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