ZNF224

zinc finger protein 224, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44094360-44109886

Previous symbols: [ "ZNF255", "ZNF27" ]

Links

ENSG00000267680 ∙ NCBI:7767 ∙ OMIM:194555 ∙ HGNC:13017 ∙ Uniprot:Q9NZL3 ∙ 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 ZNF224 gene.

• Inborn genetic diseases (28 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF224 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					4	4
missense			25	3	3	31
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	25	3	8

Variants in ZNF224

This is a list of pathogenic ClinVar variants found in the ZNF224 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44100807-A-G		not specified	Likely benign (Aug 28, 2023)
19-44100809-G-T		not specified	Uncertain significance (Jul 21, 2021)
19-44100822-G-A		not specified	Uncertain significance (Dec 19, 2022)
19-44100876-A-C		not specified	Uncertain significance (Nov 28, 2023)
19-44100937-G-A			Benign (Jul 16, 2018)
19-44101137-T-G		not specified	Uncertain significance (Sep 20, 2023)
19-44101154-A-T		not specified	Uncertain significance (Sep 22, 2023)
19-44101204-A-G		not specified	Uncertain significance (Feb 16, 2023)
19-44106470-T-C		not specified	Uncertain significance (Apr 18, 2023)
19-44106480-T-C		not specified	Uncertain significance (Nov 20, 2023)
19-44106539-G-A		not specified	Uncertain significance (Jul 19, 2023)
19-44106559-G-T		not specified	Uncertain significance (Mar 21, 2023)
19-44106635-G-A		not specified	Uncertain significance (May 04, 2022)
19-44106687-A-G		not specified	Uncertain significance (May 27, 2022)
19-44106771-A-G		not specified	Uncertain significance (Feb 15, 2023)
19-44106801-G-A			Benign (Jul 23, 2018)
19-44106817-G-T			Benign (Aug 16, 2018)
19-44106822-C-T		not specified	Uncertain significance (Nov 27, 2023)
19-44106852-C-T		not specified	Uncertain significance (Sep 27, 2021)
19-44106956-G-A		not specified	Uncertain significance (Sep 09, 2021)
19-44106969-T-G		not specified	Uncertain significance (Jan 10, 2022)
19-44107013-G-A		not specified	Uncertain significance (Oct 05, 2023)
19-44107092-C-T		not specified	Uncertain significance (Jul 27, 2022)
19-44107220-A-G		not specified	Uncertain significance (Dec 13, 2021)
19-44107224-G-A		not specified	Uncertain significance (Apr 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF224	protein_coding	protein_coding	ENST00000336976	4	13988

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00313	0.613	125733	0	11	125744	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.645	347	383	0.907	0.0000194	4741
Missense in Polyphen		112	126.54	0.88512		1664
Synonymous	-0.155	137	135	1.02	0.00000726	1184
Loss of Function	0.442	4	5.07	0.788	2.81e-7	53

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.000109	0.000109
South Asian	0.0000653	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation as a transcriptional repressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells. {ECO:0000269|PubMed:20587513}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.930
• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.49

Haploinsufficiency Scores

• pHI: 0.163
• hipred: N
• hipred_score: 0.112
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.878

Gene Damage Prediction

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

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;negative regulation of transcription, DNA-templated
• Cellular component: nucleus;transcriptional repressor complex;nuclear membrane
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;protein binding;sequence-specific DNA binding;metal ion binding