ENDOU

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

Basic information

Region (hg38): 12:47709734-47725567

Links

ENSG00000111405 ∙ NCBI:8909 ∙ OMIM:606720 ∙ HGNC:14369 ∙ Uniprot:P21128 ∙ 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 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			44	3	1	48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	44	3	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENDOU	protein_coding	protein_coding	ENST00000422538	10	15834

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.24e-14	0.0401	125223	0	525	125748	0.00209

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.653	207	235	0.880	0.0000128	2725
Missense in Polyphen		67	83.619	0.80125		1066
Synonymous	0.797	82	91.7	0.894	0.00000516	715
Loss of Function	0.397	22	24.1	0.913	0.00000119	287

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00423	0.00420
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000435
Finnish	0.00282	0.00282
European (Non-Finnish)	0.00271	0.00269
Middle Eastern	0.000435	0.000435
South Asian	0.000850	0.000850
Other	0.00245	0.00245

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

• 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

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

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