AIDA

axin interactor, dorsalization associated, the group of C2 domain containing

Basic information

Region (hg38): 1:222668013-222713210

Previous symbols: [ "C1orf80" ]

Links

ENSG00000186063 ∙ NCBI:64853 ∙ OMIM:612375 ∙ HGNC:25761 ∙ Uniprot:Q96BJ3 ∙ 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 AIDA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AIDA 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in AIDA

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

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

Position	Type	Phenotype	Significance	ClinVar
1-222669976-T-C		not specified	Uncertain significance (Dec 21, 2023)
1-222670143-C-T		not specified	Uncertain significance (Jan 10, 2023)
1-222670163-T-A		not specified	Uncertain significance (May 18, 2023)
1-222670250-C-T		not specified	Uncertain significance (Jan 09, 2025)
1-222673370-A-G		not specified	Uncertain significance (Dec 07, 2024)
1-222673397-G-A		not specified	Uncertain significance (Dec 21, 2022)
1-222673427-C-T		not specified	Uncertain significance (Jun 23, 2023)
1-222676104-C-G		not specified	Uncertain significance (Dec 15, 2022)
1-222676126-T-C		not specified	Uncertain significance (Sep 30, 2022)
1-222686947-A-C		not specified	Uncertain significance (Dec 14, 2024)
1-222686990-C-A		not specified	Uncertain significance (May 20, 2024)
1-222703176-T-C		not specified	Uncertain significance (Jan 21, 2025)
1-222703195-C-T		not specified	Uncertain significance (May 18, 2023)
1-222712248-A-C		not specified	Uncertain significance (Dec 24, 2024)
1-222712308-C-A		not specified	Uncertain significance (Sep 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AIDA	protein_coding	protein_coding	ENST00000340020	10	45198

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000155	0.970	125728	0	19	125747	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.955	117	150	0.780	0.00000675	1999
Missense in Polyphen		11	30.862	0.35643		433
Synonymous	2.00	35	53.6	0.653	0.00000248	541
Loss of Function	1.94	9	17.9	0.504	8.36e-7	242

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000247	0.000246
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000579	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000108	0.000105
Middle Eastern	0.0000579	0.0000544
South Asian	0.00	0.00
Other	0.000172	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a ventralizing factor during embryogenesis. Inhibits axin-mediated JNK activation by binding axin and disrupting axin homodimerization. This in turn antagonizes a Wnt/beta-catenin-independent dorsalization pathway activated by AXIN/JNK-signaling (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.567
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.54

Haploinsufficiency Scores

• pHI: 0.670
• hipred: Y
• hipred_score: 0.528
• ghis: 0.688

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.640

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aida

Zebrafish Information Network

• Gene name: aida
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: wholly dorsalized

Gene ontology

• Biological process: dorsal/ventral pattern formation;regulation of protein homodimerization activity;negative regulation of JUN kinase activity;negative regulation of JNK cascade;determination of ventral identity
• Cellular component: cellular_component;cytoplasm;membrane
• Molecular function: protein binding;protein domain specific binding;phosphatidylinositol binding