URAD

ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase

Basic information

Region (hg38): 13:27977717-27988693

Previous symbols: [ "PRHOXNB" ]

Links

ENSG00000183463 ∙ NCBI:646625 ∙ OMIM:615804 ∙ HGNC:17785 ∙ Uniprot:A6NGE7 ∙ 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 URAD gene.

• not_specified (36 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the URAD gene is commonly pathogenic or not. These statistics are base on transcript: NM_001105577.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			35	1		36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
URAD	protein_coding	protein_coding	ENST00000332715	2	10941

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00514	0.481	124608	0	8	124616	0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.360	71	63.0	1.13	0.00000305	1058
Missense in Polyphen		21	18.111	1.1595		331
Synonymous	1.12	19	26.3	0.723	0.00000125	359
Loss of Function	-0.203	3	2.64	1.13	1.13e-7	47

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000678	0.0000678
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000586	0.0000556
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.0000364	0.0000354
Middle Eastern	0.0000586	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the stereoselective decarboxylation of 2-oxo- 4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin. {ECO:0000305}.
• Pathway: Purine metabolism - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0978

Haploinsufficiency Scores

• pHI: 0.183
• hipred: N
• hipred_score: 0.318

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Urad

Gene ontology

• Biological process: purine nucleobase metabolic process;biological_process;allantoin biosynthetic process;urate catabolic process
• Cellular component: cellular_component;peroxisome
• Molecular function: carboxy-lyase activity