ZNF223

zinc finger protein 223, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44051367-44067999

Links

ENSG00000178386 ∙ NCBI:7766 ∙ ∙ HGNC:13016 ∙ Uniprot:Q9UK11 ∙ 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 ZNF223 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF223 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			41	1		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	41	2	0

Variants in ZNF223

This is a list of pathogenic ClinVar variants found in the ZNF223 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44055190-A-G		not specified	Uncertain significance (Jul 19, 2022)
19-44060579-T-G		not specified	Uncertain significance (Dec 15, 2023)
19-44060758-C-T		not specified	Uncertain significance (Dec 30, 2023)
19-44066085-T-A		not specified	Uncertain significance (Oct 29, 2021)
19-44066102-G-A		not specified	Uncertain significance (Jun 06, 2023)
19-44066109-C-G		not specified	Uncertain significance (Jun 29, 2023)
19-44066112-A-C		not specified	Uncertain significance (Nov 21, 2024)
19-44066120-T-C		not specified	Uncertain significance (Dec 03, 2021)
19-44066181-C-T		not specified	Uncertain significance (Apr 18, 2023)
19-44066246-A-G		not specified	Uncertain significance (Aug 13, 2021)
19-44066267-C-T		not specified	Uncertain significance (Mar 01, 2024)
19-44066274-A-G		not specified	Uncertain significance (Apr 10, 2023)
19-44066304-A-G		not specified	Uncertain significance (Apr 25, 2022)
19-44066307-T-C		not specified	Uncertain significance (Dec 24, 2024)
19-44066307-T-G		not specified	Uncertain significance (Dec 22, 2024)
19-44066363-G-C		not specified	Uncertain significance (Apr 13, 2022)
19-44066364-A-G		not specified	Uncertain significance (Jan 01, 2025)
19-44066397-C-T		not specified	Uncertain significance (Jan 24, 2024)
19-44066408-C-T		not specified	Uncertain significance (May 23, 2023)
19-44066421-A-G		not specified	Uncertain significance (Jan 09, 2024)
19-44066450-G-A		not specified	Uncertain significance (May 08, 2024)
19-44066488-A-T		not specified	Uncertain significance (Feb 07, 2025)
19-44066520-C-T		not specified	Uncertain significance (Jan 24, 2023)
19-44066577-A-C		not specified	Uncertain significance (Dec 06, 2024)
19-44066579-T-G		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF223	protein_coding	protein_coding	ENST00000434772	4	16625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000991	0.200	125734	0	11	125745	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.217	245	255	0.962	0.0000132	3226
Missense in Polyphen		59	73.83	0.79913		1040
Synonymous	1.29	72	87.4	0.824	0.00000411	842
Loss of Function	-0.412	7	5.92	1.18	4.04e-7	53

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000868	0.0000868
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000443	0.0000440
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
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)

Intolerance Scores

• loftool: 0.888
• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.74

Haploinsufficiency Scores

• pHI: 0.0970
• hipred: N
• hipred_score: 0.112
• ghis: 0.454

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.845

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, DNA-templated;biological_process
• Cellular component: nucleus
• Molecular function: DNA binding;DNA-binding transcription factor activity;protein binding;metal ion binding