ZNF225

zinc finger protein 225, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44112180-44134822

Links

ENSG00000256294 ∙ NCBI:7768 ∙ ∙ HGNC:13018 ∙ Uniprot:Q9UK10 ∙ 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 ZNF225 gene.

• Inborn genetic diseases (27 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF225 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	5		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	21	5	0

Variants in ZNF225

This is a list of pathogenic ClinVar variants found in the ZNF225 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44115849-A-G			Likely benign (Nov 01, 2022)
19-44118191-G-A		not specified	Conflicting classifications of pathogenicity (Oct 01, 2023)
19-44118273-G-A		not specified	Likely benign (Oct 03, 2022)
19-44118485-A-G		not specified	Uncertain significance (Jun 06, 2023)
19-44118557-A-G		not specified	Uncertain significance (May 15, 2023)
19-44130885-G-C		not specified	Uncertain significance (Nov 03, 2022)
19-44130963-T-G		not specified	Uncertain significance (Sep 22, 2023)
19-44130967-T-C		not specified	Uncertain significance (Aug 30, 2021)
19-44130996-G-C		not specified	Uncertain significance (Jan 29, 2024)
19-44131035-A-T		not specified	Uncertain significance (Jul 14, 2021)
19-44131041-G-A		not specified	Likely benign (Jan 10, 2022)
19-44131104-G-C		not specified	Uncertain significance (Dec 16, 2021)
19-44131189-G-A		not specified	Uncertain significance (Feb 13, 2024)
19-44131255-A-T		not specified	Uncertain significance (Apr 17, 2023)
19-44131267-A-G		not specified	Uncertain significance (Dec 19, 2022)
19-44131506-C-T		not specified	Uncertain significance (Mar 05, 2024)
19-44131513-G-C		not specified	Uncertain significance (Sep 22, 2022)
19-44131549-G-A		not specified	Likely benign (Mar 01, 2024)
19-44131636-A-G		not specified	Uncertain significance (Oct 05, 2023)
19-44131746-G-A		not specified	Uncertain significance (Oct 29, 2021)
19-44131771-G-A		not specified	Uncertain significance (Jan 26, 2022)
19-44131857-C-T		not specified	Uncertain significance (Oct 29, 2021)
19-44131876-C-G		not specified	Uncertain significance (Dec 15, 2022)
19-44131876-C-T		not specified	Uncertain significance (Dec 30, 2023)
19-44131890-A-G		not specified	Uncertain significance (Nov 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF225	protein_coding	protein_coding	ENST00000262894	4	20694

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.114	0.787	125708	0	29	125737	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0656	369	373	0.990	0.0000193	4728
Missense in Polyphen		140	139.57	1.0031		1942
Synonymous	0.391	122	128	0.956	0.00000627	1211
Loss of Function	1.30	2	5.21	0.384	3.06e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000879
Middle Eastern	0.0000545	0.0000544
South Asian	0.000850	0.000850
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: 0.886
• rvis_EVS: 0.98
• rvis_percentile_EVS: 90.43

Haploinsufficiency Scores

• pHI: 0.228
• hipred: N
• hipred_score: 0.112
• ghis: 0.489

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.239

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;metal ion binding