ZNF800

zinc finger protein 800, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:127346789-127431924

Links

ENSG00000048405 ∙ NCBI:168850 ∙ ∙ HGNC:27267 ∙ Uniprot:Q2TB10 ∙ 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 ZNF800 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF800 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					2	2
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	0	2

Variants in ZNF800

This is a list of pathogenic ClinVar variants found in the ZNF800 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-127373387-C-T		not specified	Uncertain significance (Jun 12, 2023)
7-127373426-T-C		not specified	Uncertain significance (Dec 01, 2022)
7-127373451-T-C		not specified	Uncertain significance (Aug 14, 2023)
7-127373521-G-A			Benign (Aug 02, 2017)
7-127373618-G-C		not specified	Uncertain significance (Oct 02, 2023)
7-127373619-C-T		not specified	Uncertain significance (Mar 20, 2024)
7-127373627-T-C		not specified	Uncertain significance (Feb 05, 2024)
7-127373929-C-G		not specified	Uncertain significance (Jan 24, 2024)
7-127373945-G-A		not specified	Uncertain significance (Aug 17, 2022)
7-127373948-G-A		not specified	Uncertain significance (Jan 10, 2022)
7-127374002-G-A		not specified	Uncertain significance (Jul 14, 2023)
7-127374005-G-A		not specified	Uncertain significance (Jan 08, 2024)
7-127374075-G-A		not specified	Uncertain significance (Jul 12, 2022)
7-127374170-G-T		not specified	Uncertain significance (May 24, 2024)
7-127374374-T-G		not specified	Uncertain significance (May 11, 2022)
7-127374650-T-C		not specified	Uncertain significance (Dec 02, 2022)
7-127374661-A-G			Benign (Aug 02, 2017)
7-127374858-T-C		not specified	Uncertain significance (Feb 15, 2023)
7-127374893-G-A		not specified	Uncertain significance (Dec 06, 2022)
7-127374918-G-T		not specified	Uncertain significance (May 16, 2022)
7-127374980-G-A		not specified	Uncertain significance (Nov 08, 2022)
7-127386065-C-A		not specified	Uncertain significance (May 24, 2024)
7-127386117-G-T		not specified	Uncertain significance (Jun 02, 2023)
7-127391554-G-A		not specified	Uncertain significance (Jan 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF800	protein_coding	protein_coding	ENST00000393313	4	85135

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000153	124327	0	2	124329	0.00000804

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.991	299	351	0.851	0.0000178	4358
Missense in Polyphen		78	121.18	0.64367		1488
Synonymous	-0.137	124	122	1.02	0.00000617	1256
Loss of Function	4.86	1	29.4	0.0340	0.00000192	350

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000552	0.0000552
Finnish	0.00	0.00
European (Non-Finnish)	0.00000886	0.00000886
Middle Eastern	0.0000552	0.0000552
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.92

Haploinsufficiency Scores

• pHI: 0.562
• hipred: Y
• hipred_score: 0.595
• ghis: 0.624

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.372

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp800

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