ENDOV

endonuclease V, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 17:80415165-80438086

Links

ENSG00000173818 ∙ NCBI:284131 ∙ OMIM:619821 ∙ HGNC:26640 ∙ Uniprot:Q8N8Q3 ∙ 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 ENDOV gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENDOV 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			26		1	27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	0	1

Variants in ENDOV

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

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

Position	Type	Phenotype	Significance	ClinVar
17-80415220-C-T		not specified	Uncertain significance (Nov 17, 2022)
17-80415223-C-A		not specified	Uncertain significance (Sep 17, 2021)
17-80415223-C-G		not specified	Uncertain significance (May 05, 2023)
17-80415660-C-T		not specified	Uncertain significance (Jan 03, 2024)
17-80415673-A-C		not specified	Uncertain significance (Dec 01, 2022)
17-80415704-G-C		not specified	Uncertain significance (Feb 15, 2023)
17-80415714-G-A		not specified	Uncertain significance (Feb 08, 2023)
17-80415731-G-T		not specified	Uncertain significance (May 21, 2024)
17-80415748-A-T		not specified	Uncertain significance (May 27, 2022)
17-80415786-G-T		not specified	Uncertain significance (Nov 02, 2023)
17-80415801-C-T		not specified	Uncertain significance (Feb 17, 2023)
17-80421846-C-T		not specified	Uncertain significance (Sep 14, 2022)
17-80421864-G-T		not specified	Uncertain significance (Oct 26, 2022)
17-80421865-C-T		not specified	Uncertain significance (Dec 27, 2023)
17-80421877-C-T		not specified	Uncertain significance (Oct 26, 2022)
17-80421946-C-T		not specified	Uncertain significance (Feb 21, 2024)
17-80423537-C-T			Benign (May 12, 2018)
17-80423546-G-A		not specified	Uncertain significance (Dec 28, 2022)
17-80423549-C-T		not specified	Uncertain significance (Aug 12, 2021)
17-80423604-T-A		not specified	Uncertain significance (Apr 15, 2024)
17-80425537-G-A		not specified	Uncertain significance (Jun 26, 2023)
17-80425549-A-T		UMLS: C0007644	Uncertain significance (-)
17-80425597-C-T		not specified	Uncertain significance (Aug 01, 2022)
17-80425612-G-A		not specified	Uncertain significance (Mar 23, 2023)
17-80425616-G-A		not specified	Uncertain significance (Mar 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENDOV	protein_coding	protein_coding	ENST00000518137	10	22922

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.01e-9	0.171	123944	1	513	124458	0.00207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.363	177	164	1.08	0.00000945	1719
Missense in Polyphen		50	44.624	1.1205		482
Synonymous	-0.971	85	74.3	1.14	0.00000455	594
Loss of Function	0.457	15	17.0	0.880	9.85e-7	174

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00119	0.00111
Ashkenazi Jewish	0.00	0.00
East Asian	0.0164	0.0163
Finnish	0.00364	0.00363
European (Non-Finnish)	0.000498	0.000479
Middle Eastern	0.0164	0.0163
South Asian	0.00191	0.00183
Other	0.00236	0.00232

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endoribonuclease that specifically cleaves inosine- containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine. Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs). Cleaves mRNAs and tRNAs containing inosine. Also able to cleave structure-specific dsRNA substrates containing the specific sites 5'-IIUI-3' and 5'- UIUU-3'. Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A-to-I editing. Binds branched DNA structures. {ECO:0000269|PubMed:23139746, ECO:0000269|PubMed:23912683, ECO:0000269|PubMed:23912718}.

Intolerance Scores

• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.09

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.289
• ghis: 0.632

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• 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: Endov

Gene ontology

• Biological process: DNA repair;RNA phosphodiester bond hydrolysis, endonucleolytic
• Cellular component: nucleolus;cytoplasm
• Molecular function: magnesium ion binding;DNA binding;single-stranded RNA binding;endodeoxyribonuclease activity, producing 5'-phosphomonoesters;endoribonuclease activity, producing 5'-phosphomonoesters