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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 24.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_001282933.2	NP_001269862.1	15	yes	-
ENST00000375200.6	ENSP00000364346.1	15	yes	-
NM_032819.5	NP_116208.3	15	-	-
NM_001282935.2	NP_001269864.1	13	-	-

Phenotypes

GenCC

Source: genCC

• hyper-IgE recurrent infection syndrome 3, autosomal recessive (Definitive), mode of inheritance: AR
• 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 (613 variants)
• not_specified (176 variants)
• ZNF341-related_disorder (24 variants)
• Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive (20 variants)
• Hyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant (1 variants)
• Long_QT_syndrome (1 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. These statistics are base on transcript: NM_001282933.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous		1	4	225	8	238
missense		2	302	23	4	331
nonsense	8					8
start loss						0
frameshift	12	2	3			17
splice donor/acceptor (+/-2bp)		4	6			10
Total	20	9	315	248	12

Highest pathogenic variant AF is 0.000019153733

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
		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

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

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