ENDOU

endonuclease, poly(U) specific, the group of Serine proteases|Endoribonucleases

Basic information

Region (hg38): 12:47709734-47725567

Links

ENSG00000111405NCBI:8909OMIM:606720HGNC:14369Uniprot:P21128AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • not_specified (47 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENDOU gene is commonly pathogenic or not. These statistics are base on transcript: NM_001172439.2. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
44
clinvar
3
clinvar
1
clinvar
48
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 44 3 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ENDOUprotein_codingprotein_codingENST00000422538 1015834
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.24e-140.040112522305251257480.00209
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6532072350.8800.00001282725
Missense in Polyphen6783.6190.801251066
Synonymous0.7978291.70.8940.00000516715
Loss of Function0.3972224.10.9130.00000119287

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.004230.00420
Ashkenazi Jewish0.000.00
East Asian0.0004350.000435
Finnish0.002820.00282
European (Non-Finnish)0.002710.00269
Middle Eastern0.0004350.000435
South Asian0.0008500.000850
Other0.002450.00245

dbNSFP

Source: dbNSFP

Function
FUNCTION: Endoribonuclease that cleaves single-stranded RNAs at uridylates and releases products that have 2'-3'-cyclic phosphate termini. {ECO:0000269|PubMed:18936097}.;

Intolerance Scores

loftool
0.415
rvis_EVS
-0.18
rvis_percentile_EVS
40.36

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.146
ghis
0.489

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Endou
Phenotype
hematopoietic system phenotype; immune system phenotype; renal/urinary system phenotype; cellular phenotype;

Gene ontology

Biological process
proteolysis;receptor-mediated endocytosis;immune response;female pregnancy;regulation of signaling receptor activity;RNA phosphodiester bond hydrolysis, endonucleolytic
Cellular component
extracellular region;extracellular space;cytoplasm;plasma membrane
Molecular function
RNA binding;endoribonuclease activity;scavenger receptor activity;growth factor activity;serine-type peptidase activity;manganese ion binding;polysaccharide binding