AZI2

5-azacytidine induced 2

Basic information

Region (hg38): 3:28315002-28349050

Links

ENSG00000163512 ∙ NCBI:64343 ∙ OMIM:609916 ∙ HGNC:24002 ∙ Uniprot:Q9H6S1 ∙ 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 AZI2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AZI2 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in AZI2

This is a list of pathogenic ClinVar variants found in the AZI2 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-28316348-G-A		not specified	Uncertain significance (Jun 09, 2022)
3-28316351-A-G		not specified	Uncertain significance (Aug 14, 2023)
3-28319562-G-T		not specified	Uncertain significance (Feb 22, 2023)
3-28319566-A-C		not specified	Uncertain significance (Jun 29, 2022)
3-28319604-T-C		not specified	Uncertain significance (Jan 19, 2024)
3-28324050-T-C		not specified	Uncertain significance (Sep 26, 2023)
3-28324098-G-C		not specified	Uncertain significance (Mar 20, 2024)
3-28324128-T-A		not specified	Uncertain significance (May 20, 2024)
3-28324203-C-T		not specified	Uncertain significance (Dec 01, 2022)
3-28324296-C-A		not specified	Uncertain significance (Nov 14, 2023)
3-28324421-C-A		not specified	Uncertain significance (Feb 10, 2022)
3-28324442-A-G		not specified	Uncertain significance (Jan 19, 2022)
3-28326910-T-C		not specified	Uncertain significance (Mar 29, 2024)
3-28336783-T-G		not specified	Uncertain significance (Mar 30, 2024)
3-28336856-T-C		not specified	Uncertain significance (Mar 01, 2024)
3-28337951-A-G		not specified	Uncertain significance (Oct 17, 2023)
3-28337952-C-A		not specified	Uncertain significance (Dec 18, 2023)
3-28337952-C-T		not specified	Uncertain significance (Jun 19, 2024)
3-28338017-G-A		not specified	Uncertain significance (Jul 27, 2021)
3-28338035-T-C		not specified	Uncertain significance (Feb 13, 2023)
3-28338602-A-G		not specified	Uncertain significance (Apr 18, 2023)
3-28338611-A-C		not specified	Uncertain significance (Mar 07, 2024)
3-28340418-C-A		not specified	Uncertain significance (Apr 25, 2022)
3-28340536-T-C		not specified	Uncertain significance (Apr 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AZI2	protein_coding	protein_coding	ENST00000479665	7	34125

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00691	0.990	125692	0	19	125711	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.700	164	191	0.857	0.00000860	2577
Missense in Polyphen		28	39.39	0.71083		602
Synonymous	0.536	64	69.7	0.918	0.00000316	715
Loss of Function	2.57	7	19.1	0.366	0.00000106	245

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000243	0.000243
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000825	0.0000792
Middle Eastern	0.0000544	0.0000544
South Asian	0.000137	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Adapter protein which binds TBK1 and IKBKE playing a role in antiviral innate immunity. Activates serine/threonine- protein kinase TBK1 and facilitates its oligomerization. Enhances the phosphorylation of NF-kappa-B p65 subunit RELA by TBK1. Promotes TBK1-induced as well as TNF-alpha or PMA-induced activation of NF-kappa-B. Participates in IFNB promoter activation via TICAM1. {ECO:0000269|PubMed:14560022, ECO:0000269|PubMed:15611223, ECO:0000269|PubMed:21931631}.
• Pathway: RIG-I-like receptor signaling pathway - Homo sapiens (human);RIG-I-like Receptor Signaling (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.172
• rvis_EVS: -0.41
• rvis_percentile_EVS: 26.23

Haploinsufficiency Scores

• pHI: 0.480
• hipred: Y
• hipred_score: 0.681
• ghis: 0.619

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Azi2
• Phenotype: cellular phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: mitotic cell cycle;I-kappaB kinase/NF-kappaB signaling;viral process;interferon-alpha production;interferon-gamma production;interleukin-6 production;tumor necrosis factor production;T cell activation;dendritic cell proliferation;dendritic cell differentiation
• Cellular component: cytoplasm
• Molecular function: protein binding