ZNF443

zinc finger protein 443, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:12429706-12441021

Links

ENSG00000180855 ∙ NCBI:10224 ∙ OMIM:606697 ∙ HGNC:20878 ∙ Uniprot:Q9Y2A4 ∙ 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 ZNF443 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF443 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				2		2
missense			48	3		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	5	0

Variants in ZNF443

This is a list of pathogenic ClinVar variants found in the ZNF443 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-12430191-G-A		not specified	Uncertain significance (Mar 15, 2024)
19-12430193-G-A		not specified	Uncertain significance (Nov 22, 2022)
19-12430211-C-T		not specified	Uncertain significance (Jun 03, 2022)
19-12430299-A-T		not specified	Uncertain significance (Oct 03, 2023)
19-12430323-C-G		not specified	Uncertain significance (Aug 30, 2022)
19-12430327-C-T			Likely benign (Oct 01, 2022)
19-12430337-C-A		not specified	Uncertain significance (Sep 21, 2023)
19-12430337-C-G		not specified	Uncertain significance (Dec 15, 2022)
19-12430342-A-G			Likely benign (Oct 01, 2022)
19-12430377-G-C		not specified	Uncertain significance (Aug 15, 2023)
19-12430439-T-C		not specified	Uncertain significance (Dec 10, 2024)
19-12430517-C-A		not specified	Uncertain significance (Jul 25, 2023)
19-12430542-A-T		not specified	Uncertain significance (Apr 24, 2024)
19-12430559-C-T		not specified	Uncertain significance (Dec 17, 2021)
19-12430581-G-T		not specified	Uncertain significance (Sep 10, 2024)
19-12430628-C-T		not specified	Uncertain significance (Jun 29, 2023)
19-12430629-G-T		not specified	Uncertain significance (May 07, 2024)
19-12430640-T-G		not specified	Uncertain significance (Jun 18, 2021)
19-12430664-G-A		not specified	Uncertain significance (Oct 06, 2021)
19-12430679-T-C		not specified	Uncertain significance (Aug 17, 2021)
19-12430679-T-G		not specified	Uncertain significance (May 17, 2023)
19-12430723-T-A		not specified	Uncertain significance (Sep 01, 2021)
19-12430826-T-C		not specified	Uncertain significance (Sep 24, 2024)
19-12430829-G-T		not specified	Uncertain significance (Mar 27, 2024)
19-12430859-C-A		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF443	protein_coding	protein_coding	ENST00000301547	4	11406

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000488	0.456	125083	0	10	125093	0.0000400

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.34	415	345	1.20	0.0000174	4456
Missense in Polyphen		156	128.59	1.2131		1762
Synonymous	-1.99	144	117	1.23	0.00000582	1159
Loss of Function	0.125	5	5.31	0.942	3.05e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000103	0.0000922
Ashkenazi Jewish	0.00	0.00
East Asian	0.000225	0.000218
Finnish	0.000141	0.000139
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000225	0.000218
South Asian	0.0000342	0.0000328
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: 0.0907

Intolerance Scores

• loftool: 0.927
• rvis_EVS: 1.69
• rvis_percentile_EVS: 96.43

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.112
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.546

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp709

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;apoptotic process
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding