ENGASE

endo-beta-N-acetylglucosaminidase, the group of Glycoside hydrolases

Basic information

Region (hg38): 17:79074824-79088599

Links

ENSG00000167280 ∙ NCBI:64772 ∙ OMIM:611898 ∙ HGNC:24622 ∙ Uniprot:Q8NFI3 ∙ 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 ENGASE gene.

• not_specified (127 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENGASE gene is commonly pathogenic or not. These statistics are base on transcript: NM_001042573.3. 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	1	3
missense			120	7	2	129
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	120	9	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENGASE	protein_coding	protein_coding	ENST00000579016	14	13661

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.41e-25	0.000301	124571	0	359	124930	0.00144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0208	451	450	1.00	0.0000291	4748
Missense in Polyphen		139	145.6	0.95467		1603
Synonymous	-0.513	197	188	1.05	0.0000122	1544
Loss of Function	-0.0881	37	36.4	1.02	0.00000203	373

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00469	0.00456
Ashkenazi Jewish	0.00	0.00
East Asian	0.00179	0.00177
Finnish	0.00158	0.00158
European (Non-Finnish)	0.00133	0.00130
Middle Eastern	0.00179	0.00177
South Asian	0.00135	0.00134
Other	0.00104	0.000989

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endoglycosidase that releases N-glycans from glycoproteins by cleaving the beta-1,4-glycosidic bond in the N,N'-diacetylchitobiose core. Involved in the processing of free oligosaccharides in the cytosol. {ECO:0000269|PubMed:12114544}.
• Pathway: Other glycan degradation - Homo sapiens (human);Post-translational protein modification;Metabolism of proteins;Asparagine N-linked glycosylation;N-glycan trimming in the ER and Calnexin/Calreticulin cycle (Consensus)

Intolerance Scores

• loftool: 0.894
• rvis_EVS: -0.63
• rvis_percentile_EVS: 16.78

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.197
• ghis: 0.485

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.262

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Engase

Gene ontology

• Biological process: protein folding;protein deglycosylation
• Cellular component: cytosol
• Molecular function: mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity