ZNF426

zinc finger protein 426, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:9523223-9538645

Links

ENSG00000130818 ∙ NCBI:79088 ∙ ∙ HGNC:20725 ∙ Uniprot:Q9BUY5 ∙ 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 ZNF426 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF426 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			50	2		52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	50	2	0

Variants in ZNF426

This is a list of pathogenic ClinVar variants found in the ZNF426 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-9528405-A-G		not specified	Uncertain significance (Aug 05, 2024)
19-9528411-C-T		not specified	Uncertain significance (Jan 06, 2023)
19-9528412-G-A		not specified	Uncertain significance (Mar 24, 2023)
19-9528415-G-A		not specified	Uncertain significance (Apr 20, 2024)
19-9528504-G-A		not specified	Uncertain significance (Jul 27, 2021)
19-9528531-T-G		not specified	Uncertain significance (Jun 27, 2022)
19-9528596-C-G		not specified	Uncertain significance (Jul 09, 2024)
19-9528614-C-G		not specified	Uncertain significance (Oct 26, 2022)
19-9528636-T-C		not specified	Uncertain significance (Aug 11, 2022)
19-9528640-T-A		not specified	Uncertain significance (Jan 12, 2024)
19-9528679-C-G		not specified	Uncertain significance (Nov 08, 2022)
19-9528693-T-C		not specified	Uncertain significance (Apr 15, 2024)
19-9528699-G-A		not specified	Uncertain significance (Aug 16, 2021)
19-9528723-G-A		not specified	Uncertain significance (Feb 03, 2025)
19-9528726-C-T		not specified	Uncertain significance (May 21, 2024)
19-9528750-G-T		not specified	Uncertain significance (Dec 17, 2021)
19-9528768-C-T		not specified	Uncertain significance (Jun 26, 2024)
19-9528781-A-G		not specified	Uncertain significance (May 04, 2022)
19-9528790-C-T		not specified	Uncertain significance (Jul 22, 2024)
19-9528858-T-C		not specified	Uncertain significance (Feb 23, 2023)
19-9528912-C-T		not specified	Uncertain significance (Nov 26, 2024)
19-9528913-G-A		not specified	Uncertain significance (Oct 01, 2024)
19-9528973-G-A		not specified	Uncertain significance (Mar 07, 2024)
19-9528987-A-G		not specified	Uncertain significance (Apr 25, 2023)
19-9529008-G-C		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF426	protein_coding	protein_coding	ENST00000535489	6	10637

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000630	0.477	125729	0	16	125745	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.00795	293	293	0.999	0.0000141	3665
Missense in Polyphen		56	72.47	0.77273		968
Synonymous	-2.62	136	102	1.33	0.00000508	988
Loss of Function	0.609	9	11.2	0.804	5.60e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000235	0.000235
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.000110	0.000109
South Asian	0.0000980	0.0000980
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)

Recessive Scores

• pRec: 0.0971

Intolerance Scores

• loftool: 0.914
• rvis_EVS: -0.75
• rvis_percentile_EVS: 13.58

Haploinsufficiency Scores

• pHI: 0.161
• hipred: N
• hipred_score: 0.148
• ghis: 0.515

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.541

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp426

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;protein binding;metal ion binding