ZNF428

zinc finger protein 428, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:43607223-43619629

Previous symbols: [ "C19orf37" ]

Links

ENSG00000131116 ∙ NCBI:126299 ∙ ∙ HGNC:20804 ∙ Uniprot:Q96B54 ∙ 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 ZNF428 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF428 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding			37	9		46
Total	0	0	45	9	0

Variants in ZNF428

This is a list of pathogenic ClinVar variants found in the ZNF428 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-43607698-G-C		not specified	Uncertain significance (Jan 05, 2022)
19-43607744-G-T		not specified	Uncertain significance (May 08, 2024)
19-43607765-C-T		not specified	Uncertain significance (Jun 03, 2024)
19-43607823-G-T			Uncertain significance (Mar 12, 2021)
19-43607849-C-T		not specified	Uncertain significance (May 01, 2024)
19-43607856-G-A		not specified	Uncertain significance (Feb 22, 2023)
19-43607864-C-G		not specified	Uncertain significance (Jan 23, 2024)
19-43607922-G-T		not specified	Uncertain significance (Jan 31, 2024)
19-43608065-G-A		not specified	Uncertain significance (Nov 14, 2023)
19-43608087-A-C		not specified	Uncertain significance (Aug 21, 2023)
19-43608102-C-T		not specified	Uncertain significance (Dec 17, 2023)
19-43612254-G-C		not specified	Uncertain significance (Jan 23, 2024)
19-43612276-C-G		not specified	Uncertain significance (Feb 10, 2022)
19-43612324-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-43612351-G-A		not specified	Likely benign (Jul 13, 2022)
19-43612353-C-T		not specified	Uncertain significance (Feb 03, 2022)
19-43612410-G-A		not specified	Uncertain significance (Jul 07, 2022)
19-43612443-G-A		not specified	Uncertain significance (Nov 17, 2022)
19-43612519-A-G		not specified	Uncertain significance (Jul 19, 2023)
19-43612554-A-G		not specified	Uncertain significance (May 09, 2023)
19-43612556-A-G		not specified	Likely benign (Jun 10, 2022)
19-43612627-G-A		not specified	Uncertain significance (Feb 07, 2023)
19-43612635-A-T		not specified	Uncertain significance (Apr 26, 2023)
19-43612639-A-G		not specified	Uncertain significance (Dec 28, 2022)
19-43612710-C-T		not specified	Uncertain significance (Mar 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF428	protein_coding	protein_coding	ENST00000300811	2	12656

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.501	0.481	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.704	98	120	0.819	0.00000766	1192
Missense in Polyphen		47	57.288	0.82042		509
Synonymous	-0.548	53	48.2	1.10	0.00000308	387
Loss of Function	1.91	1	6.07	0.165	2.57e-7	86

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.13
• rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

• pHI: 0.114
• hipred: N
• hipred_score: 0.396
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.960

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp428

Gene ontology

• Molecular function: nucleic acid binding;metal ion binding