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.

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.

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			20 clinvar			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	0

Variants in URAD

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

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

Position	Phenotype	Significance	ClinVar
13-27978141-C-T	not specified	Uncertain significance (Feb 15, 2023)	2469467
13-27978146-C-A	not specified	Uncertain significance (Dec 16, 2024)	3813774
13-27978146-C-T	not specified	Uncertain significance (May 08, 2023)	2509655
13-27978167-A-G	not specified	Uncertain significance (Jan 15, 2025)	3813777
13-27978174-C-A	not specified	Uncertain significance (Feb 21, 2024)	3186894
13-27978179-G-C	not specified	Uncertain significance (Mar 06, 2023)	2494109
13-27978203-G-T	not specified	Uncertain significance (Apr 01, 2024)	3331177
13-27978216-G-C	not specified	Uncertain significance (May 06, 2024)	3331178
13-27978221-G-A	not specified	Uncertain significance (Jan 23, 2024)	3186892
13-27978234-G-T	not specified	Uncertain significance (Jan 26, 2023)	2479850
13-27978245-C-G	not specified	Uncertain significance (Jun 12, 2023)	2523210
13-27978246-G-A	not specified	Uncertain significance (Jan 01, 2025)	3813776
13-27978257-C-T	not specified	Uncertain significance (Jun 19, 2024)	3331179
13-27978261-C-G	not specified	Uncertain significance (Feb 04, 2025)	3813775
13-27978281-C-T	not specified	Uncertain significance (Jun 11, 2021)	2219850
13-27978330-C-T	not specified	Uncertain significance (May 31, 2022)	2292421
13-27978333-C-G	not specified	Uncertain significance (May 23, 2024)	3331180
13-27978357-C-A	not specified	Uncertain significance (Dec 19, 2023)	3186891
13-27978357-C-T	not specified	Uncertain significance (Jun 29, 2023)	2608158
13-27978369-C-T	not specified	Uncertain significance (Jun 26, 2024)	3466350
13-27978392-G-T	not specified	Uncertain significance (Apr 25, 2023)	2540276
13-27978395-C-T	not specified	Uncertain significance (Aug 16, 2021)	2245757
13-27988499-G-A	not specified	Uncertain significance (May 08, 2023)	2509049
13-27988532-G-A	not specified	Uncertain significance (Oct 01, 2024)	3466349

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
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred
gene_indispensability_score

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
Phenotype

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