ZBP1

Z-DNA binding protein 1

Basic information

Region (hg38): 20:57603846-57620576

Previous symbols: [ "C20orf183" ]

Links

ENSG00000124256 ∙ NCBI:81030 ∙ OMIM:606750 ∙ HGNC:16176 ∙ Uniprot:Q9H171 ∙ 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 ZBP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBP1 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			18	4	1	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	4	2

Variants in ZBP1

This is a list of pathogenic ClinVar variants found in the ZBP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-57604589-C-A		not specified	Uncertain significance (Oct 12, 2021)
20-57604597-C-T			Benign (May 21, 2018)
20-57604722-T-C		not specified	Uncertain significance (Jan 12, 2024)
20-57604727-C-T		not specified	Likely benign (Oct 16, 2023)
20-57604752-T-G		not specified	Uncertain significance (Sep 06, 2022)
20-57610167-C-T		not specified	Uncertain significance (Dec 28, 2022)
20-57610222-C-T		not specified	Uncertain significance (Dec 22, 2023)
20-57610228-G-T		not specified	Uncertain significance (Nov 09, 2023)
20-57610239-C-T		not specified	Uncertain significance (May 01, 2024)
20-57610248-C-T		not specified	Likely benign (Oct 06, 2021)
20-57610254-C-T		not specified	Uncertain significance (Sep 07, 2022)
20-57610271-A-T		not specified	Uncertain significance (Jun 10, 2024)
20-57611763-C-T		not specified	Uncertain significance (Mar 12, 2024)
20-57611772-C-T		not specified	Uncertain significance (Sep 22, 2022)
20-57611783-C-T		not specified	Uncertain significance (Jun 28, 2022)
20-57611849-G-A		not specified	Uncertain significance (Aug 04, 2023)
20-57611885-G-T		not specified	Uncertain significance (Jan 07, 2022)
20-57611922-C-T		not specified	Uncertain significance (Nov 29, 2021)
20-57611925-C-T		not specified	Likely benign (Mar 01, 2023)
20-57613163-C-T			Benign (Jul 07, 2018)
20-57613166-C-T		not specified	Uncertain significance (Sep 16, 2021)
20-57613217-T-A		not specified	Uncertain significance (Nov 17, 2023)
20-57614925-A-G		not specified	Uncertain significance (Apr 08, 2022)
20-57615550-A-T		not specified	Uncertain significance (May 18, 2023)
20-57616331-C-A			Likely benign (Jun 20, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBP1	protein_coding	protein_coding	ENST00000371173	8	16731

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.83e-14	0.00782	125641	0	106	125747	0.000422

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.372	265	249	1.07	0.0000139	2771
Missense in Polyphen		86	82.433	1.0433		919
Synonymous	-0.155	100	98.0	1.02	0.00000625	854
Loss of Function	-0.408	20	18.1	1.10	9.63e-7	189

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000541	0.000541
Ashkenazi Jewish	0.00	0.00
East Asian	0.00212	0.00212
Finnish	0.00	0.00
European (Non-Finnish)	0.000364	0.000360
Middle Eastern	0.00212	0.00212
South Asian	0.000296	0.000294
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Participates in the detection by the host's innate immune system of DNA from viral, bacterial or even host origin. Plays a role in host defense against tumors and pathogens. Acts as a cytoplasmic DNA sensor which, when activated, induces the recruitment of TBK1 and IRF3 to its C-terminal region and activates the downstream interferon regulatory factor (IRF) and NF-kappa B transcription factors, leading to type-I interferon production. ZBP1-induced NF-kappaB activation probably involves the recruitment of the RHIM containing kinases RIPK1 and RIPK3 (By similarity). {ECO:0000250}.
• Pathway: Cytosolic DNA-sensing pathway - Homo sapiens (human);Necroptosis - Homo sapiens (human);IRF3 mediated activation of type 1 IFN;ZBP1(DAI) mediated induction of type I IFNs;Regulation of innate immune responses to cytosolic DNA;Innate Immune System;Immune System;RIP-mediated NFkB activation via ZBP1;Cytosolic sensors of pathogen-associated DNA (Consensus)

Recessive Scores

• pRec: 0.0715

Intolerance Scores

• loftool: 0.981
• rvis_EVS: 3.02
• rvis_percentile_EVS: 99.23

Haploinsufficiency Scores

• pHI: 0.0993
• hipred: N
• hipred_score: 0.352

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.327

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbp1
• Phenotype: immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cellular phenotype

Gene ontology

• Biological process: biological_process;regulation of type I interferon production;positive regulation of type I interferon production;innate immune response;positive regulation of type I interferon-mediated signaling pathway
• Cellular component: nucleus;cytoplasm;cytosol
• Molecular function: DNA binding;left-handed Z-DNA binding;RNA binding;double-stranded RNA adenosine deaminase activity;protein binding