ZNF226

zinc finger protein 226, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44165073-44178381

Links

ENSG00000167380 ∙ NCBI:7769 ∙ ∙ HGNC:13019 ∙ Uniprot:Q9NYT6 ∙ 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 ZNF226 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF226 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			53	4		57
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	53	4	0

Variants in ZNF226

This is a list of pathogenic ClinVar variants found in the ZNF226 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44170085-A-G		not specified	Likely benign (Feb 15, 2023)
19-44172109-G-A		not specified	Uncertain significance (Feb 06, 2023)
19-44172113-C-T		not specified	Uncertain significance (Oct 06, 2022)
19-44172146-T-C		not specified	Uncertain significance (Dec 14, 2023)
19-44172187-G-A		not specified	Uncertain significance (Jul 15, 2021)
19-44172212-T-C		not specified	Uncertain significance (Nov 16, 2021)
19-44172868-C-G		not specified	Uncertain significance (May 31, 2023)
19-44172874-A-C		not specified	Uncertain significance (Aug 12, 2021)
19-44172908-A-G		not specified	Likely benign (Jul 06, 2021)
19-44172923-C-T		not specified	Uncertain significance (Mar 01, 2023)
19-44175587-A-G		not specified	Uncertain significance (Dec 12, 2023)
19-44175615-T-C		not specified	Uncertain significance (May 29, 2024)
19-44175711-T-G		not specified	Uncertain significance (Dec 20, 2023)
19-44175732-A-G		not specified	Likely benign (Feb 28, 2024)
19-44175815-A-G		not specified	Uncertain significance (Aug 12, 2021)
19-44175851-T-C		not specified	Uncertain significance (Jun 06, 2022)
19-44175857-T-C		not specified	Uncertain significance (Jun 10, 2024)
19-44175875-C-G		not specified	Uncertain significance (Dec 14, 2021)
19-44175878-A-C		not specified	Uncertain significance (Jun 29, 2023)
19-44175942-A-T		not specified	Uncertain significance (Jun 29, 2023)
19-44175962-A-G		not specified	Uncertain significance (Feb 24, 2022)
19-44175968-A-T		not specified	Uncertain significance (Nov 29, 2021)
19-44175980-G-C		not specified	Uncertain significance (Apr 20, 2024)
19-44175998-C-T		not specified	Uncertain significance (Sep 21, 2021)
19-44176014-C-T		not specified	Uncertain significance (Oct 21, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF226	protein_coding	protein_coding	ENST00000590089	4	13309

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.24e-15	0.0958	125337	1	410	125748	0.00164

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.833	465	417	1.11	0.0000202	5364
Missense in Polyphen		195	167.21	1.1662		2182
Synonymous	-1.29	165	145	1.14	0.00000700	1388
Loss of Function	0.867	25	30.1	0.830	0.00000154	411

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00297	0.00293
Ashkenazi Jewish	0.000498	0.000496
East Asian	0.00606	0.00600
Finnish	0.00	0.00
European (Non-Finnish)	0.000938	0.000897
Middle Eastern	0.00606	0.00600
South Asian	0.00449	0.00445
Other	0.000329	0.000326

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: 0.983
• rvis_EVS: -0.42
• rvis_percentile_EVS: 25.83

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.112
• ghis: 0.567

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.755

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp111
• Phenotype: hearing/vestibular/ear phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region phenotype

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