ADO

2-aminoethanethiol dioxygenase

Basic information

Region (hg38): 10:62804719-62808479

Previous symbols: [ "C10orf22" ]

Links

ENSG00000181915 ∙ NCBI:84890 ∙ OMIM:611392 ∙ HGNC:23506 ∙ Uniprot:Q96SZ5 ∙ 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 ADO gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADO 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			10	1		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	10	1	0

Variants in ADO

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

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

Position	Type	Phenotype	Significance	ClinVar
10-62805064-C-T		not specified	Uncertain significance (Jun 02, 2024)
10-62805144-G-A		not specified	Likely benign (May 11, 2022)
10-62805159-G-C		not specified	Uncertain significance (Nov 29, 2023)
10-62805175-C-T		not specified	Uncertain significance (Dec 20, 2023)
10-62805181-C-T		not specified	Uncertain significance (Nov 30, 2022)
10-62805341-C-A		not specified	Uncertain significance (Dec 01, 2022)
10-62805490-C-T		not specified	Uncertain significance (Jan 09, 2024)
10-62805496-C-T		not specified	Uncertain significance (Jan 04, 2024)
10-62805552-G-A		not specified	Uncertain significance (Jul 06, 2021)
10-62805615-A-C		not specified	Uncertain significance (Nov 08, 2021)
10-62805747-A-G		not specified	Uncertain significance (Aug 22, 2023)
10-62805835-A-G		not specified	Uncertain significance (Nov 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADO	protein_coding	protein_coding	ENST00000373783	1	3723

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.480	0.499	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.61	88	142	0.619	0.00000655	1666
Missense in Polyphen		17	41.586	0.40879		513
Synonymous	-0.416	71	66.7	1.06	0.00000314	577
Loss of Function	1.86	1	5.86	0.171	2.56e-7	62

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Pathway: Taurine and hypotaurine metabolism - Homo sapiens (human);Taurine and Hypotaurine Metabolism;taurine biosynthesis;Degradation of cysteine and homocysteine;Metabolism of amino acids and derivatives;Metabolism;Sulfur amino acid metabolism (Consensus)

Intolerance Scores

• loftool: 0.153
• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• pHI: 0.243
• hipred: Y
• hipred_score: 0.516
• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.259

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ado

Gene ontology

• Biological process: sulfur amino acid catabolic process;oxidation-reduction process
• Cellular component: cytosol
• Molecular function: metal ion binding;cysteamine dioxygenase activity