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.

• not_specified (96 variants)
• not_provided (2 variants)

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. These statistics are base on transcript: NM_000175872.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	1		2
missense			89	8		97
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	90	9	0

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