ZNF793

zinc finger protein 793, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:37506939-37548762

Links

ENSG00000188227 ∙ NCBI:390927 ∙ ∙ HGNC:33115 ∙ Uniprot:Q6ZN11 ∙ 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 ZNF793 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF793 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			21	3		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	3	0

Variants in ZNF793

This is a list of pathogenic ClinVar variants found in the ZNF793 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-37532380-G-A		not specified	Uncertain significance (Dec 16, 2022)
19-37532411-G-A		not specified	Uncertain significance (Aug 12, 2022)
19-37532426-A-G		not specified	Uncertain significance (Aug 16, 2022)
19-37533361-C-T		not specified	Uncertain significance (Dec 15, 2023)
19-37533370-G-T		not specified	Likely benign (Jul 09, 2021)
19-37533386-C-T		not specified	Likely benign (Jun 11, 2021)
19-37536918-T-C		not specified	Uncertain significance (Apr 19, 2024)
19-37536932-C-T		not specified	Uncertain significance (Mar 03, 2022)
19-37536943-G-A		not specified	Uncertain significance (Jun 28, 2022)
19-37537063-C-A		not specified	Uncertain significance (Mar 19, 2024)
19-37537068-G-C		not specified	Uncertain significance (Dec 21, 2022)
19-37537188-A-G		not specified	Uncertain significance (May 24, 2023)
19-37537220-C-T		not specified	Likely benign (Dec 05, 2022)
19-37537221-G-A		not specified	Uncertain significance (May 24, 2024)
19-37537223-G-A		not specified	Uncertain significance (Jun 18, 2024)
19-37537307-C-T		not specified	Uncertain significance (Nov 10, 2022)
19-37537308-G-A		not specified	Uncertain significance (Jul 30, 2023)
19-37537362-C-G		not specified	Uncertain significance (Aug 29, 2022)
19-37537529-G-T		not specified	Uncertain significance (Apr 17, 2023)
19-37537530-C-T		not specified	Uncertain significance (Feb 14, 2024)
19-37537544-T-A		not specified	Uncertain significance (Jan 30, 2024)
19-37537547-C-T		not specified	Uncertain significance (Oct 27, 2023)
19-37537572-A-T		not specified	Uncertain significance (Feb 17, 2022)
19-37537671-C-T		not specified	Uncertain significance (May 31, 2022)
19-37537676-C-T		not specified	Uncertain significance (Apr 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF793	protein_coding	protein_coding	ENST00000445217	4	41824

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.96e-9	0.243	125236	0	201	125437	0.000802

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0963	221	225	0.982	0.0000119	2680
Missense in Polyphen		70	66.862	1.0469		888
Synonymous	-0.252	83	80.1	1.04	0.00000415	731
Loss of Function	0.628	15	17.9	0.840	9.90e-7	226

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000744	0.000732
Ashkenazi Jewish	0.00	0.00
East Asian	0.000779	0.000762
Finnish	0.000695	0.000693
European (Non-Finnish)	0.00116	0.00115
Middle Eastern	0.000779	0.000762
South Asian	0.000625	0.000621
Other	0.000827	0.000820

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.873
• rvis_EVS: 0.29
• rvis_percentile_EVS: 71.5

Haploinsufficiency Scores

• pHI: 0.116
• hipred: N
• hipred_score: 0.112
• ghis: 0.523

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.109

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