ZFP92

ZFP92 zinc finger protein, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): X:153411471-153426481

Links

ENSG00000189420 ∙ NCBI:139735 ∙ ∙ HGNC:12865 ∙ Uniprot:A6NM28 ∙ 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 ZFP92 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFP92 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	18	1	0

Variants in ZFP92

This is a list of pathogenic ClinVar variants found in the ZFP92 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-153418314-G-A			Likely benign (Jan 01, 2023)
X-153418348-G-C		not specified	Uncertain significance (Dec 28, 2022)
X-153418700-G-A		not specified	Uncertain significance (Nov 10, 2022)
X-153418700-G-C		not specified	Uncertain significance (Sep 16, 2021)
X-153418727-C-T		not specified	Uncertain significance (Nov 22, 2023)
X-153420249-A-T		not specified	Uncertain significance (Mar 25, 2024)
X-153420300-C-T		not specified	Uncertain significance (Apr 09, 2024)
X-153420819-G-A		not specified	Uncertain significance (Jan 03, 2022)
X-153420891-A-C		not specified	Uncertain significance (Jul 27, 2022)
X-153421078-G-A		not specified	Uncertain significance (Nov 08, 2022)
X-153421254-G-A		not specified	Uncertain significance (Feb 21, 2024)
X-153421308-C-G		not specified	Uncertain significance (Mar 01, 2023)
X-153421312-G-A		not specified	Uncertain significance (Feb 16, 2023)
X-153421320-A-G		not specified	Uncertain significance (May 01, 2022)
X-153421347-G-C		not specified	Uncertain significance (Mar 01, 2023)
X-153421450-G-A		not specified	Uncertain significance (Apr 05, 2023)
X-153421516-C-T		not specified	Uncertain significance (Jan 23, 2023)
X-153421519-C-T		ZFP92-related disorder • not specified	Conflicting classifications of pathogenicity (Jun 10, 2022)
X-153421567-C-T		not specified	Uncertain significance (Jan 23, 2024)
X-153421585-G-A		not specified	Uncertain significance (Feb 02, 2024)
X-153421588-C-T		not specified	Uncertain significance (Oct 04, 2022)
X-153421620-C-T		not specified	Uncertain significance (Oct 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZFP92	protein_coding	protein_coding	ENST00000338647	4	3308

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.652	0.343	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.05	98	174	0.564	0.0000173	2651
Missense in Polyphen		24	59.744	0.40171		888
Synonymous	1.40	70	86.6	0.808	0.00000986	837
Loss of Function	2.23	1	7.68	0.130	6.07e-7	134

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.

Haploinsufficiency Scores

• pHI: 0.0763
• hipred: N
• hipred_score: 0.238
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp92

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