ZNF441

zinc finger protein 441, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:11767000-11784078

Links

ENSG00000197044 ∙ NCBI:126068 ∙ ∙ HGNC:20875 ∙ Uniprot:Q8N8Z8 ∙ 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 ZNF441 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF441 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				1	3	4
missense			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	1	3

Variants in ZNF441

This is a list of pathogenic ClinVar variants found in the ZNF441 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-11777672-G-A		not specified	Uncertain significance (Dec 20, 2023)
19-11777687-G-A		not specified	Uncertain significance (Jun 11, 2021)
19-11777703-G-C			Benign (Dec 31, 2019)
19-11777732-G-A		not specified	Uncertain significance (Dec 06, 2021)
19-11778353-A-G		not specified	Uncertain significance (May 27, 2022)
19-11778365-C-A		not specified	Uncertain significance (Apr 10, 2023)
19-11780091-A-G			Benign (Dec 31, 2019)
19-11780155-G-A		not specified	Uncertain significance (Jun 23, 2023)
19-11780173-T-C		not specified	Uncertain significance (Aug 08, 2022)
19-11780194-G-A		not specified	Uncertain significance (Nov 22, 2023)
19-11780330-A-G		not specified	Uncertain significance (Oct 18, 2021)
19-11780383-A-G		not specified	Uncertain significance (Nov 09, 2023)
19-11780392-C-T		not specified	Uncertain significance (Dec 08, 2023)
19-11780429-G-T		not specified	Uncertain significance (Dec 01, 2022)
19-11780537-C-T		not specified	Uncertain significance (May 16, 2024)
19-11780584-T-C		not specified	Uncertain significance (Jul 26, 2022)
19-11780606-T-G		not specified	Uncertain significance (Feb 21, 2024)
19-11780644-C-A		not specified	Uncertain significance (Jan 23, 2023)
19-11780671-A-G		not specified	Uncertain significance (Mar 15, 2024)
19-11780775-T-G		not specified	Uncertain significance (Nov 06, 2023)
19-11780807-G-T		not specified	Uncertain significance (Jan 11, 2023)
19-11780809-A-G		not specified	Uncertain significance (Aug 01, 2022)
19-11780841-G-T		not specified	Uncertain significance (Feb 06, 2024)
19-11780894-C-T		not specified	Uncertain significance (Jun 07, 2024)
19-11780969-A-T		not specified	Uncertain significance (Aug 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF441	protein_coding	protein_coding	ENST00000357901	4	17079

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.362	0.591	125555	0	1	125556	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.56	285	369	0.772	0.0000174	4646
Missense in Polyphen		89	123.23	0.72222		1504
Synonymous	-0.317	127	123	1.04	0.00000618	1182
Loss of Function	1.57	1	4.65	0.215	1.97e-7	58

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)	0.00000880	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
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: 0.694
• rvis_EVS: 0.64
• rvis_percentile_EVS: 84.05

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.259
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.416

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