ZNF92

zinc finger protein 92, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:65373798-65401136

Links

ENSG00000146757 ∙ NCBI:168374 ∙ OMIM:603974 ∙ HGNC:13168 ∙ Uniprot:Q03936 ∙ 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 ZNF92 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF92 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			32			32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	0	0

Variants in ZNF92

This is a list of pathogenic ClinVar variants found in the ZNF92 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-65387974-C-T		not specified	Uncertain significance (Dec 17, 2023)
7-65387975-G-A		not specified	Uncertain significance (Nov 06, 2023)
7-65388858-G-T		not specified	Uncertain significance (Jan 26, 2022)
7-65398443-A-G		not specified	Uncertain significance (Oct 26, 2022)
7-65398484-A-G		not specified	Uncertain significance (Mar 20, 2024)
7-65398487-G-A		not specified	Uncertain significance (Feb 23, 2023)
7-65398578-A-G		not specified	Uncertain significance (Jun 06, 2023)
7-65398640-A-C		not specified	Uncertain significance (Dec 22, 2023)
7-65398653-A-C		not specified	Uncertain significance (Dec 01, 2022)
7-65398724-G-A		not specified	Uncertain significance (Oct 04, 2022)
7-65398769-C-T		not specified	Uncertain significance (Dec 28, 2023)
7-65398770-A-G		not specified	Uncertain significance (Feb 13, 2024)
7-65398812-A-C		not specified	Uncertain significance (Jul 27, 2021)
7-65398884-A-G		not specified	Uncertain significance (Feb 22, 2023)
7-65398955-G-A		not specified	Uncertain significance (Jun 23, 2023)
7-65399049-C-T		not specified	Uncertain significance (May 14, 2024)
7-65399084-G-A		not specified	Uncertain significance (Jul 16, 2021)
7-65399135-T-C		not specified	Uncertain significance (Apr 25, 2023)
7-65399217-C-G		not specified	Uncertain significance (Apr 12, 2022)
7-65399229-A-G		not specified	Uncertain significance (Nov 17, 2023)
7-65399244-C-G		not specified	Uncertain significance (Apr 08, 2022)
7-65399261-A-G		not specified	Uncertain significance (Jun 28, 2022)
7-65399262-C-G		not specified	Uncertain significance (Dec 16, 2023)
7-65399304-A-G		not specified	Uncertain significance (Apr 09, 2024)
7-65399308-A-T		not specified	Uncertain significance (Jan 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF92	protein_coding	protein_coding	ENST00000328747	4	27327

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000629	0.293	125619	1	20	125640	0.0000836

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.291	280	294	0.952	0.0000135	3901
Missense in Polyphen		104	109.83	0.94694		1546
Synonymous	0.618	94	102	0.922	0.00000469	989
Loss of Function	-0.228	6	5.43	1.11	2.30e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000124	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000548	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000168	0.000158
Middle Eastern	0.0000548	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0977

Intolerance Scores

• loftool: 0.805
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.96

Haploinsufficiency Scores

• pHI: 0.165
• hipred: N
• hipred_score: 0.148
• ghis: 0.545

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.916

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;DNA-binding transcription factor activity;zinc ion binding