ZNF792

zinc finger protein 792, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:34956354-34964229

Links

ENSG00000180884 ∙ NCBI:126375 ∙ ∙ HGNC:24751 ∙ Uniprot:Q3KQV3 ∙ 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 ZNF792 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF792 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				1		1
missense			55	4		59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	5	0

Variants in ZNF792

This is a list of pathogenic ClinVar variants found in the ZNF792 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-34957964-C-A		not specified	Uncertain significance (Dec 11, 2023)
19-34957994-G-T		not specified	Uncertain significance (Sep 07, 2022)
19-34958000-A-T		not specified	Uncertain significance (Sep 07, 2022)
19-34958005-T-G		not specified	Uncertain significance (Dec 22, 2024)
19-34958086-A-C		not specified	Uncertain significance (Oct 02, 2023)
19-34958087-T-C		not specified	Uncertain significance (May 26, 2022)
19-34958132-G-A		not specified	Uncertain significance (Dec 14, 2024)
19-34958133-C-A		not specified	Uncertain significance (Dec 14, 2024)
19-34958136-T-G		not specified	Uncertain significance (Nov 20, 2024)
19-34958147-C-T		not specified	Uncertain significance (Feb 20, 2025)
19-34958162-T-A		not specified	Uncertain significance (Jan 08, 2025)
19-34958180-C-A		not specified	Uncertain significance (Jan 19, 2024)
19-34958180-C-G		not specified	Uncertain significance (Feb 28, 2023)
19-34958260-C-T		not specified	Uncertain significance (May 30, 2023)
19-34958261-G-A		not specified	Uncertain significance (Feb 23, 2025)
19-34958264-C-T		not specified	Uncertain significance (Oct 04, 2022)
19-34958267-C-T		not specified	Uncertain significance (Mar 20, 2024)
19-34958268-G-A			Likely benign (Jan 01, 2023)
19-34958281-C-T		not specified	Uncertain significance (Jan 27, 2022)
19-34958332-C-A		not specified	Uncertain significance (Jun 25, 2024)
19-34958344-C-T		not specified	Uncertain significance (Feb 08, 2025)
19-34958428-C-T		not specified	Uncertain significance (Aug 20, 2024)
19-34958462-G-C		not specified	Uncertain significance (Oct 09, 2024)
19-34958473-C-T		not specified	Uncertain significance (Feb 17, 2022)
19-34958495-C-T		not specified	Uncertain significance (Jan 21, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF792	protein_coding	protein_coding	ENST00000404801	4	7696

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.92e-10	0.159	125671	0	77	125748	0.000306

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.588	337	369	0.914	0.0000200	4238
Missense in Polyphen		104	125.64	0.82778		1516
Synonymous	1.21	124	142	0.871	0.00000861	1161
Loss of Function	0.500	16	18.3	0.874	0.00000103	215

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000863	0.000862
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.000372	0.000370
European (Non-Finnish)	0.000331	0.000325
Middle Eastern	0.000163	0.000163
South Asian	0.0000657	0.0000653
Other	0.000490	0.000489

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: 0.931
• rvis_EVS: 0.14
• rvis_percentile_EVS: 63.64

Haploinsufficiency Scores

• pHI: 0.170
• hipred: N
• hipred_score: 0.148
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.430

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;protein binding;identical protein binding;metal ion binding