ZZZ3

zinc finger ZZ-type containing 3, the group of ATAC complex|Zinc fingers ZZ-type|Myb/SANT domain containing

Basic information

Region (hg38): 1:77562416-77683419

Links

ENSG00000036549 ∙ NCBI:26009 ∙ OMIM:619892 ∙ HGNC:24523 ∙ Uniprot:Q8IYH5 ∙ 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 ZZZ3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZZZ3 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
missense			52	2		54
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	52	2	1

Variants in ZZZ3

This is a list of pathogenic ClinVar variants found in the ZZZ3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-77565748-T-C			Benign (Feb 08, 2018)
1-77565749-T-C		not specified	Uncertain significance (Jul 26, 2021)
1-77565756-C-A		not specified	Uncertain significance (Jan 10, 2022)
1-77565763-G-C		not specified	Uncertain significance (Oct 04, 2022)
1-77566166-T-C		not specified	Uncertain significance (Feb 28, 2024)
1-77568442-A-G		not specified	Uncertain significance (May 28, 2023)
1-77576075-T-G		not specified	Uncertain significance (Mar 12, 2024)
1-77576088-T-C		not specified	Uncertain significance (Feb 13, 2024)
1-77576114-C-T		not specified	Uncertain significance (Jun 13, 2022)
1-77578784-T-C		not specified	Uncertain significance (Apr 14, 2022)
1-77578790-T-C		not specified	Uncertain significance (Aug 17, 2021)
1-77578797-T-C		not specified	Uncertain significance (Apr 26, 2023)
1-77579606-A-T		not specified	Uncertain significance (Aug 30, 2021)
1-77579636-A-G			Benign (Dec 18, 2018)
1-77581011-G-C		not specified	Uncertain significance (Dec 08, 2021)
1-77581777-T-C		not specified	Uncertain significance (May 26, 2023)
1-77581811-T-G		not specified	Uncertain significance (May 29, 2024)
1-77581823-T-C		not specified	Likely benign (Mar 01, 2024)
1-77581858-T-C		not specified	Uncertain significance (Dec 08, 2023)
1-77581888-C-T		not specified	Uncertain significance (Mar 20, 2024)
1-77582021-G-A		not specified	Uncertain significance (Jul 25, 2023)
1-77582022-A-C		not specified	Uncertain significance (Apr 17, 2024)
1-77584518-T-G		not specified	Uncertain significance (Nov 07, 2022)
1-77584594-C-A			Uncertain significance (Jun 01, 2019)
1-77584597-G-C		not specified	Uncertain significance (Apr 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZZZ3	protein_coding	protein_coding	ENST00000370801	11	121004

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000195	125677	0	3	125680	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.67	363	464	0.782	0.0000232	5959
Missense in Polyphen		89	155.9	0.57088		1923
Synonymous	1.19	139	158	0.879	0.00000766	1674
Loss of Function	5.71	3	43.8	0.0685	0.00000272	527

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000420	0.0000420
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000882	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Chromatin modifying enzymes;HATs acetylate histones;Chromatin organization (Consensus)

Recessive Scores

• pRec: 0.0986

Intolerance Scores

• loftool: 0.0474
• rvis_EVS: -0.75
• rvis_percentile_EVS: 13.58

Haploinsufficiency Scores

• pHI: 0.645
• hipred: Y
• hipred_score: 0.783
• ghis: 0.651

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zzz3

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus;Ada2/Gcn5/Ada3 transcription activator complex;nucleolus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;zinc ion binding