GANC

glucosidase alpha, neutral C, the group of Glycoside hydrolase family 31

Basic information

Region (hg38): 15:42273201-42353666

Links

ENSG00000214013 ∙ NCBI:2595 ∙ OMIM:104180 ∙ HGNC:4139 ∙ Uniprot:Q8TET4 ∙ 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 GANC gene.

• not_specified (101 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GANC gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198141.3. 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						0
missense			93	5	2	100
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	93	5	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GANC	protein_coding	protein_coding	ENST00000318010	24	80434

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.55e-35	0.0000367	125282	0	465	125747	0.00185

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.618	521	483	1.08	0.0000237	6000
Missense in Polyphen		208	185.62	1.1206		2190
Synonymous	-0.832	184	170	1.08	0.00000826	1689
Loss of Function	0.354	54	56.9	0.949	0.00000296	646

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00379	0.00378
Ashkenazi Jewish	0.00487	0.00487
East Asian	0.00290	0.00289
Finnish	0.00	0.00
European (Non-Finnish)	0.00127	0.00125
Middle Eastern	0.00290	0.00289
South Asian	0.00333	0.00330
Other	0.00295	0.00294

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has alpha-glucosidase activity. {ECO:0000269|PubMed:12370436}.
• Pathway: Starch and sucrose metabolism - Homo sapiens (human);Galactose metabolism - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.736

Intolerance Scores

• loftool: 0.187
• rvis_EVS: 0.39
• rvis_percentile_EVS: 75.71

Haploinsufficiency Scores

• pHI: 0.0847
• hipred: N
• hipred_score: 0.292
• ghis: 0.492

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.882

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Ganc

Gene ontology

• Biological process: maltose metabolic process
• Molecular function: alpha-1,4-glucosidase activity;carbohydrate binding;maltose alpha-glucosidase activity