EXOG

exo/endonuclease G

Basic information

Region (hg38): 3:38496127-38542161

Previous symbols: [ "ENDOGL1", "ENDOGL2" ]

Links

ENSG00000157036 ∙ NCBI:9941 ∙ OMIM:604051 ∙ HGNC:3347 ∙ Uniprot:Q9Y2C4 ∙ 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 EXOG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EXOG 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			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	22	0	0

Variants in EXOG

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

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

Position	Type	Phenotype	Significance	ClinVar
3-38496410-C-G		not specified	Uncertain significance (Nov 09, 2023)
3-38496413-T-G		not specified	Uncertain significance (Jan 23, 2023)
3-38496416-C-G		not specified	Uncertain significance (Jun 11, 2021)
3-38496435-G-C		not specified	Uncertain significance (Apr 25, 2022)
3-38496470-G-T		not specified	Uncertain significance (Jul 26, 2021)
3-38496471-C-T		not specified	Uncertain significance (Jul 26, 2021)
3-38497621-A-T			Likely benign (Dec 31, 2019)
3-38497647-T-A		not specified	Uncertain significance (Dec 22, 2023)
3-38497724-G-A		not specified	Uncertain significance (Dec 16, 2022)
3-38497763-A-G		not specified	Uncertain significance (Aug 17, 2021)
3-38501424-A-G		not specified	Uncertain significance (Jan 31, 2022)
3-38501471-G-A		not specified	Uncertain significance (Sep 25, 2023)
3-38503646-A-G		not specified	Uncertain significance (Apr 07, 2023)
3-38523919-G-A		not specified	Uncertain significance (Dec 19, 2023)
3-38523943-A-G		not specified	Uncertain significance (Jan 16, 2024)
3-38523956-C-T		not specified	Uncertain significance (Apr 12, 2022)
3-38523959-G-A		not specified	Uncertain significance (Jun 07, 2023)
3-38523965-G-A		not specified	Uncertain significance (May 24, 2023)
3-38523979-G-A		not specified	Uncertain significance (Dec 12, 2022)
3-38523998-C-A		not specified	Uncertain significance (Feb 22, 2023)
3-38524047-A-T		not specified	Uncertain significance (Nov 15, 2021)
3-38524148-C-G		not specified	Uncertain significance (May 30, 2023)
3-38524292-G-A		not specified	Uncertain significance (Mar 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EXOG	protein_coding	protein_coding	ENST00000287675	6	46035

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.33e-11	0.0274	125660	0	87	125747	0.000346

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.411	187	203	0.919	0.0000101	2396
Missense in Polyphen		46	61.574	0.74707		710
Synonymous	1.38	63	78.6	0.801	0.00000401	726
Loss of Function	-0.298	16	14.8	1.08	7.87e-7	176

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00121	0.00120
Ashkenazi Jewish	0.00	0.00
East Asian	0.00130	0.00125
Finnish	0.00	0.00
European (Non-Finnish)	0.000249	0.000246
Middle Eastern	0.00130	0.00125
South Asian	0.000262	0.000261
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endo/exonuclease with nicking activity towards supercoiled DNA, a preference for single-stranded DNA and 5'-3' exonuclease activity. {ECO:0000269|PubMed:18187503}.

Recessive Scores

• pRec: 0.273

Intolerance Scores

• loftool: 0.974
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.33

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.150
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0492

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Exog

Gene ontology

• Biological process: DNA catabolic process, endonucleolytic;apoptotic DNA fragmentation;biological_process;RNA phosphodiester bond hydrolysis, endonucleolytic
• Cellular component: mitochondrion;mitochondrial inner membrane;protein-containing complex
• Molecular function: single-stranded DNA endodeoxyribonuclease activity;nucleic acid binding;endonuclease activity;endoribonuclease activity;exodeoxyribonuclease activity;5'-3' exonuclease activity;metal ion binding