GCAT

glycine C-acetyltransferase

Basic information

Region (hg38): 22:37807905-37817176

Links

ENSG00000100116 ∙ NCBI:23464 ∙ OMIM:607422 ∙ HGNC:4188 ∙ Uniprot:O75600 ∙ 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 GCAT gene.

• not_specified (72 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GCAT gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014291.4. 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			67			67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GCAT	protein_coding	protein_coding	ENST00000323205	9	9272

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.53e-8	0.388	125501	2	245	125748	0.000983

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.164	281	273	1.03	0.0000166	2814
Missense in Polyphen		95	108.19	0.87811		1158
Synonymous	1.68	92	115	0.800	0.00000693	958
Loss of Function	0.814	14	17.7	0.791	8.37e-7	205

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00750	0.00746
Ashkenazi Jewish	0.000498	0.000496
East Asian	0.00373	0.00370
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000234	0.000229
Middle Eastern	0.00373	0.00370
South Asian	0.000196	0.000163
Other	0.00163	0.00163

dbNSFP

Source: dbNSFP

• Pathway: Glycine, serine and threonine metabolism - Homo sapiens (human);3-Phosphoglycerate dehydrogenase deficiency;Non Ketotic Hyperglycinemia;Glycine and Serine Metabolism;Dimethylglycine Dehydrogenase Deficiency;Hyperglycinemia, non-ketotic;Dimethylglycine Dehydrogenase Deficiency;Sarcosinemia;Dihydropyrimidine Dehydrogenase Deficiency (DHPD);Metabolism of amino acids and derivatives;Glycine Serine metabolism;Metabolism;Glycine, serine, alanine and threonine metabolism;Threonine catabolism (Consensus)

Recessive Scores

• pRec: 0.150

Intolerance Scores

• loftool: 0.0849
• rvis_EVS: 0.85
• rvis_percentile_EVS: 88.42

Haploinsufficiency Scores

• pHI: 0.0751
• hipred: N
• hipred_score: 0.219

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.996

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gcat
• Phenotype: normal phenotype

Gene ontology

• Biological process: cellular amino acid metabolic process;biosynthetic process;L-threonine catabolic process to glycine
• Cellular component: nucleoplasm;mitochondrion;mitochondrial inner membrane;nuclear speck
• Molecular function: glycine C-acetyltransferase activity;pyridoxal phosphate binding