ZNF366

zinc finger protein 366, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 5:72439903-72507410

Links

ENSG00000178175 ∙ ∙ OMIM:610159 ∙ HGNC:18316 ∙ Uniprot:Q8N895 ∙ 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 ZNF366 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF366 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	1		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	50	1	0

Variants in ZNF366

This is a list of pathogenic ClinVar variants found in the ZNF366 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-72443763-C-T		not specified	Uncertain significance (Jul 12, 2023)
5-72443889-C-T		not specified	Uncertain significance (Sep 23, 2023)
5-72443893-G-C		not specified	Uncertain significance (Nov 03, 2023)
5-72443908-C-T		not specified	Uncertain significance (Dec 03, 2021)
5-72443971-C-T		not specified	Uncertain significance (Feb 13, 2024)
5-72444028-C-T		not specified	Uncertain significance (Dec 08, 2021)
5-72444067-G-A		not specified	Uncertain significance (May 30, 2024)
5-72444103-G-C		not specified	Uncertain significance (Feb 28, 2023)
5-72444159-G-A		not specified	Uncertain significance (Feb 27, 2024)
5-72444169-C-T		not specified	Uncertain significance (Sep 14, 2022)
5-72444179-G-T		not specified	Uncertain significance (Jan 03, 2024)
5-72444229-C-G		not specified	Uncertain significance (Jan 26, 2023)
5-72444253-C-T		not specified	Uncertain significance (Nov 17, 2023)
5-72444279-C-T		not specified	Uncertain significance (Feb 28, 2024)
5-72447270-C-T		not specified	Uncertain significance (Sep 16, 2021)
5-72447272-C-T		not specified	Uncertain significance (Aug 22, 2023)
5-72447381-T-C		not specified	Uncertain significance (Oct 17, 2023)
5-72456495-T-C		not specified	Uncertain significance (Dec 27, 2023)
5-72456505-G-A		not specified	Uncertain significance (Mar 07, 2024)
5-72460178-G-A		not specified	Uncertain significance (Jan 08, 2024)
5-72460243-G-C		not specified	Uncertain significance (May 23, 2023)
5-72460428-C-T		not specified	Uncertain significance (Feb 14, 2023)
5-72460466-C-T		not specified	Uncertain significance (Jan 04, 2024)
5-72460467-G-A		not specified	Uncertain significance (May 24, 2023)
5-72460481-C-A		not specified	Uncertain significance (Dec 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF366	protein_coding	protein_coding	ENST00000318442	4	65076

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0703	0.930	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0630	466	462	1.01	0.0000305	4950
Missense in Polyphen		135	172.13	0.78431		1800
Synonymous	-0.404	209	202	1.04	0.0000152	1402
Loss of Function	3.40	7	25.5	0.274	0.00000128	311

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000264	0.000264
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000528	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000990	0.0000980
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has transcriptional repression activity. Acts as corepressor of ESR1; the function seems to involve CTBP1 and histone deacetylases. {ECO:0000269|PubMed:17085477}.

Recessive Scores

• pRec: 0.105

Intolerance Scores

• rvis_EVS: 0.25
• rvis_percentile_EVS: 69.69

Haploinsufficiency Scores

• pHI: 0.237
• hipred: Y
• hipred_score: 0.762
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.266

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp366
• Phenotype: hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); skeleton phenotype; renal/urinary system phenotype; immune system phenotype; vision/eye phenotype; limbs/digits/tail phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; craniofacial phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;negative regulation of intracellular estrogen receptor signaling pathway;response to estrogen
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;transcription corepressor activity;protein binding;estrogen receptor binding;metal ion binding