ENDOG

endonuclease G

Basic information

Region (hg38): 9:128818500-128822676

Links

ENSG00000167136 ∙ NCBI:2021 ∙ OMIM:600440 ∙ HGNC:3346 ∙ Uniprot:Q14249 ∙ 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 ENDOG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENDOG 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				1	1	2
missense			20		2	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	3

Variants in ENDOG

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

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

Position	Type	Phenotype	Significance	ClinVar
9-128818734-G-T		not specified	Uncertain significance (Jun 05, 2023)
9-128818808-G-C		not specified	Uncertain significance (Nov 01, 2021)
9-128818817-G-T		not specified	Uncertain significance (Apr 06, 2024)
9-128818871-G-A		not specified	Uncertain significance (Sep 22, 2023)
9-128818894-G-C			Likely benign (Jul 30, 2018)
9-128818925-T-G		not specified	Uncertain significance (Jan 26, 2022)
9-128818947-G-T		not specified	Uncertain significance (Jan 06, 2023)
9-128818985-C-T		not specified	Uncertain significance (Jun 27, 2022)
9-128818997-C-T		not specified	Uncertain significance (Mar 20, 2024)
9-128819013-G-C		not specified	Uncertain significance (Feb 01, 2023)
9-128819033-G-C		not specified	Uncertain significance (Dec 22, 2023)
9-128819036-G-A		not specified	Uncertain significance (Apr 20, 2024)
9-128819073-C-T		not specified	Uncertain significance (Apr 17, 2023)
9-128820748-C-T		not specified	Uncertain significance (Sep 20, 2023)
9-128820773-T-C		not specified	Uncertain significance (Jan 23, 2023)
9-128820787-C-T		not specified	Uncertain significance (Jan 25, 2023)
9-128820814-G-A		not specified	Uncertain significance (Jan 26, 2023)
9-128822364-G-C		not specified	Uncertain significance (Sep 22, 2023)
9-128822370-C-T			Benign (Jun 27, 2018)
9-128822444-A-G		not specified	Uncertain significance (Oct 03, 2022)
9-128822450-G-T			Benign (Jul 30, 2018)
9-128822453-C-T			Benign (Jul 30, 2018)
9-128822473-C-T		not specified	Uncertain significance (Jan 17, 2024)
9-128822500-C-T		not specified	Uncertain significance (Sep 28, 2022)
9-128822501-G-A		not specified	Uncertain significance (Jan 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENDOG	protein_coding	protein_coding	ENST00000372642	3	4204

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000183	0.483	125370	0	12	125382	0.0000479

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	88	123	0.715	0.00000755	1803
Missense in Polyphen		53	59.073	0.8972		722
Synonymous	1.69	35	50.2	0.697	0.00000297	633
Loss of Function	0.331	6	6.94	0.864	2.97e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000606	0.0000606
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000552	0.0000544
Finnish	0.0000468	0.0000463
European (Non-Finnish)	0.0000365	0.0000353
Middle Eastern	0.0000552	0.0000544
South Asian	0.000101	0.0000984
Other	0.000188	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cleaves DNA at double-stranded (DG)n.(DC)n and at single-stranded (DC)n tracts. In addition to deoxyribonuclease activities, also has ribonuclease (RNase) and RNase H activities. Capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA (By similarity). {ECO:0000250}.
• Pathway: Apoptosis - Homo sapiens (human);Apoptosis Modulation and Signaling;Nanomaterial induced apoptosis;apoptotic dna-fragmentation and tissue homeostasis (Consensus)

Recessive Scores

• pRec: 0.201

Haploinsufficiency Scores

• pHI: 0.210
• hipred: Y
• hipred_score: 0.587
• ghis: 0.495

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.907

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Endog
• Phenotype: pigmentation phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; reproductive system phenotype; cellular phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: DNA catabolic process, endonucleolytic;in utero embryonic development;apoptotic DNA fragmentation;DNA recombination;aging;response to mechanical stimulus;response to estradiol;response to tumor necrosis factor;neuron death in response to oxidative stress;response to antibiotic;cellular response to calcium ion;cellular response to glucose stimulus;cellular response to hypoxia;RNA phosphodiester bond hydrolysis, endonucleolytic;positive regulation of hydrogen peroxide-mediated programmed cell death;positive regulation of apoptotic DNA fragmentation
• Cellular component: nucleus;mitochondrion;mitochondrial inner membrane;cytosol;perikaryon
• Molecular function: single-stranded DNA endodeoxyribonuclease activity;nucleic acid binding;endonuclease activity;endoribonuclease activity;exodeoxyribonuclease activity;protein binding;metal ion binding