GeneBe

URAHP

urate (hydroxyiso-) hydrolase, pseudogene

Basic information

Region (hg38): 16:90043914-90047597

Links

ENSG00000222019 ∙ NCBI:100130015 ∙ OMIM:615805 ∙ HGNC:43695 ∙ ∙ ∙ 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 URAHP gene.

  • Primary ciliary dyskinesia 33 (72 variants)
  • not provided (29 variants)
  • Inborn genetic diseases (7 variants)
  • not specified (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the URAHP 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
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
 1
splice region
0
non coding
1
clinvar
41
clinvar
33
clinvar
17
clinvar
 92
Total 1 0 41 34 17

Highest pathogenic variant AF is 0.00000657

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis
0.419

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Urah
Phenotype
liver/biliary system phenotype; neoplasm; hematopoietic system phenotype;