URB1-AS1

URB1 antisense RNA 1 (head to head), the group of Antisense RNAs

Basic information

Region (hg38): 21:32393048-32394380

Previous symbols: [ "C21orf119" ]

Links

ENSG00000256073NCBI:84996HGNC:23128Uniprot:Q96HZ7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the URB1-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the URB1-AS1 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)
0
splice region
0
non coding
0
Total 0 0 0 0 0

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
URB1-AS1protein_codingprotein_codingENST00000534991 1816
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1633229.51.080.00000174357
Missense in Polyphen33.62490.827643
Synonymous1.28814.10.5687.91e-7162
Loss of Function

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis
0.518

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Gene ontology

Biological process
Cellular component
Molecular function
protein binding