ZNF222

zinc finger protein 222, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44025341-44033110

Links

ENSG00000159885 ∙ NCBI:7673 ∙ OMIM:617357 ∙ HGNC:13015 ∙ Uniprot:Q9UK12 ∙ 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 ZNF222 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF222 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	1		22
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	1	0

Variants in ZNF222

This is a list of pathogenic ClinVar variants found in the ZNF222 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44025441-T-C		not specified	Uncertain significance (Feb 27, 2024)
19-44025474-C-T		not specified	Uncertain significance (May 02, 2024)
19-44027040-G-T		not specified	Uncertain significance (Oct 06, 2022)
19-44027110-G-A		not specified	Uncertain significance (Aug 02, 2023)
19-44027434-T-G		not specified	Uncertain significance (Sep 16, 2021)
19-44027458-T-A		not specified	Uncertain significance (May 20, 2024)
19-44027470-G-A		not specified	Uncertain significance (Aug 09, 2021)
19-44031972-C-A		not specified	Uncertain significance (Jun 29, 2023)
19-44032012-G-C		not specified	Uncertain significance (Oct 25, 2022)
19-44032028-G-C		not specified	Uncertain significance (Jan 23, 2023)
19-44032170-G-A		not specified	Uncertain significance (Jan 03, 2024)
19-44032188-T-A		not specified	Uncertain significance (Feb 28, 2024)
19-44032233-C-T		not specified	Uncertain significance (Sep 22, 2022)
19-44032420-G-T		not specified	Uncertain significance (Dec 08, 2023)
19-44032485-A-G		not specified	Uncertain significance (Apr 12, 2024)
19-44032494-A-G		not specified	Uncertain significance (Nov 22, 2021)
19-44032564-G-A		not specified	Uncertain significance (Aug 01, 2022)
19-44032612-A-G		not specified	Uncertain significance (Oct 26, 2022)
19-44032725-A-G		not specified	Uncertain significance (Jan 27, 2022)
19-44032759-C-T		not specified	Likely benign (Jan 31, 2022)
19-44032768-G-C		not specified	Uncertain significance (Jul 06, 2021)
19-44032893-G-C		not specified	Uncertain significance (Jun 03, 2022)
19-44032900-G-A		not specified	Uncertain significance (Dec 28, 2022)
19-44032926-G-A		not specified	Uncertain significance (Nov 08, 2021)
19-44032998-A-G		not specified	Uncertain significance (Apr 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF222	protein_coding	protein_coding	ENST00000391960	4	7772

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000533	0.474	125735	0	6	125741	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.371	229	245	0.933	0.0000118	3284
Missense in Polyphen		53	68.05	0.77884		993
Synonymous	1.24	72	86.7	0.830	0.00000401	836
Loss of Function	0.176	5	5.44	0.918	3.16e-7	60

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)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

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: 0.0780

Intolerance Scores

• loftool: 0.982
• rvis_EVS: 1.91
• rvis_percentile_EVS: 97.39

Haploinsufficiency Scores

• pHI: 0.0734
• hipred: N
• hipred_score: 0.112
• ghis: 0.385

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

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;metal ion binding