ZNF341

zinc finger protein 341, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 20:33731657-33792269

Links

ENSG00000131061 ∙ NCBI:84905 ∙ OMIM:618269 ∙ HGNC:15992 ∙ Uniprot:Q9BYN7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• hyper-IgE recurrent infection syndrome 3, autosomal recessive (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hyper-IgE recurrent infection syndrome 3, autosomal recessive	AR	Allergy/Immunology/Infectious	Individuals have been described with susceptibility to recurrent bacterial and fungal infections, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial in order to decrease morbidity and mortality	Allergy/Immunology/Infectious; Craniofacial; Neurologic	29907690; 29907691

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF341 gene.

• not provided (7 variants)
• Hyper-IgE recurrent infection syndrome 3, autosomal recessive (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF341 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	1	180	7	189
missense		1	225	15	7	248
nonsense	4					4
start loss						0
frameshift	6		2			8
inframe indel			1			1
splice donor/acceptor (+/-2bp)		3	1			4
splice region			7	16	3	26
non coding			1	53	8	62
Total	10	5	231	248	22

Highest pathogenic variant AF is 0.00000657

Variants in ZNF341

This is a list of pathogenic ClinVar variants found in the ZNF341 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-33732015-C-T		ZNF341-related disorder	Benign (Apr 04, 2019)
20-33732027-G-A			Likely benign (Feb 10, 2022)
20-33732033-G-A			Likely benign (Aug 10, 2023)
20-33732041-A-G		ZNF341-related disorder	Uncertain significance (Jan 17, 2023)
20-33732042-G-A			Likely benign (Jan 17, 2022)
20-33732049-G-C		not specified	Uncertain significance (Sep 23, 2023)
20-33732051-G-A			Uncertain significance (May 20, 2022)
20-33732052-G-A			Uncertain significance (Aug 22, 2022)
20-33732057-G-GCGGCGGCGGGGC			Likely benign (Oct 10, 2023)
20-33732059-G-A			Likely benign (Jul 01, 2022)
20-33732059-G-C			Likely benign (Oct 30, 2023)
20-33732059-G-T			Likely benign (Aug 24, 2022)
20-33732061-C-T			Likely benign (Jun 04, 2022)
20-33732064-C-CGGGGCCGGCGGA			Likely benign (Nov 25, 2022)
20-33732068-G-A			Likely benign (Nov 27, 2023)
20-33732067-G-GGC			Likely benign (Oct 07, 2022)
20-33732068-GC-G			Likely benign (Jul 26, 2022)
20-33732069-C-T			Likely benign (Jul 10, 2023)
20-33732069-CCGGCGGAGG-C			Likely benign (Nov 24, 2023)
20-33732070-C-T			Likely benign (Dec 06, 2022)
20-33732071-G-C			Likely benign (Jan 04, 2024)
20-33732070-C-CGGCGGA			Likely benign (Oct 09, 2023)
20-33732088-C-T		not specified	Benign (Jan 24, 2024)
20-33740882-G-A			Likely benign (Dec 22, 2023)
20-33740890-T-C			Likely benign (Feb 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF341	protein_coding	protein_coding	ENST00000342427	15	60613

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000241	1.00	125696	0	52	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.51	431	528	0.816	0.0000327	5498
Missense in Polyphen		105	162.18	0.64743		1889
Synonymous	0.0237	233	233	0.998	0.0000160	1727
Loss of Function	3.25	16	37.5	0.427	0.00000200	425

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000471	0.000456
Ashkenazi Jewish	0.00	0.00
East Asian	0.000282	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000235	0.000229
Middle Eastern	0.000282	0.000272
South Asian	0.000360	0.000359
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.0932

Intolerance Scores

• loftool: 0.578
• rvis_EVS: -1.14
• rvis_percentile_EVS: 6.36

Haploinsufficiency Scores

• pHI: 0.122
• hipred: Y
• hipred_score: 0.540
• ghis: 0.511

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.804

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp341

Gene ontology

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