DAOA

D-amino acid oxidase activator

Basic information

Region (hg38): 13:105465866-105491034

Links

ENSG00000182346 ∙ NCBI:267012 ∙ OMIM:607408 ∙ HGNC:21191 ∙ Uniprot:P59103 ∙ 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 DAOA gene.

• not provided (9 variants)
• Inborn genetic diseases (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAOA 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			2	1	2	5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding			1			1
Total	0	0	3	1	2

Variants in DAOA

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

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

Position	Type	Phenotype	Significance	ClinVar
13-105467097-G-A			not provided (-)
13-105467118-C-A		not specified	Uncertain significance (Mar 23, 2023)
13-105467134-C-G			not provided (-)
13-105472599-T-C		not specified	Likely benign (Jan 24, 2024)
13-105472627-A-C			Likely benign (Mar 29, 2018)
13-105472631-A-G		not specified	Uncertain significance (Dec 07, 2023)
13-105472642-T-A		not specified	Uncertain significance (Dec 15, 2022)
13-105472644-A-C		not specified	Likely benign (Dec 12, 2023)
13-105472644-A-T			Benign (Jan 08, 2018)
13-105472657-G-T			not provided (-)
13-105472675-C-T			not provided (-)
13-105472693-T-C			Benign (Jan 08, 2018)
13-105490001-C-G		not specified	Uncertain significance (May 11, 2022)
13-105490025-C-G			Benign (Jan 08, 2018)
13-105490053-A-G			not provided (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAOA	protein_coding	protein_coding	ENST00000375936	4	25168

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000140	0.430	124364	6	433	124803	0.00176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.433	89	78.2	1.14	0.00000373	997
Missense in Polyphen		10	5.7769	1.731		50
Synonymous	-1.15	35	27.4	1.28	0.00000136	266
Loss of Function	0.197	6	6.55	0.917	2.74e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0270	0.0267
Ashkenazi Jewish	0.00	0.00
East Asian	0.000114	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.0000271	0.0000265
Middle Eastern	0.000114	0.000111
South Asian	0.0000345	0.0000327
Other	0.00103	0.000990

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Seems to activate D-amino acid oxidase.

Intolerance Scores

• loftool: 0.519
• rvis_EVS: 0.81
• rvis_percentile_EVS: 87.82

Haploinsufficiency Scores

• pHI: 0.0350
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.110

Gene Damage Prediction

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

Gene ontology

• Biological process: positive regulation of catalytic activity;negative regulation of D-amino-acid oxidase activity
• Cellular component: mitochondrion;Golgi apparatus;perinuclear region of cytoplasm
• Molecular function: enzyme activator activity;enzyme binding