AWAT1

acyl-CoA wax alcohol acyltransferase 1, the group of Diacylglycerol O-acyltransferase 2 family

Basic information

Region (hg38): X:70234655-70240659

Previous symbols: [ "DGAT2L3" ]

Links

ENSG00000204195 ∙ NCBI:158833 ∙ OMIM:300924 ∙ HGNC:23252 ∙ Uniprot:Q58HT5 ∙ 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 AWAT1 gene.

• not_specified (34 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AWAT1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001013579.3. 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				1	1	2
missense			31	4		35
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	31	5	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AWAT1	protein_coding	protein_coding	ENST00000374521	7	5973

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000266	0.794	125699	4	16	125719	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.256	118	126	0.936	0.00000943	2154
Missense in Polyphen		46	42.081	1.0931		736
Synonymous	-0.222	52	50.0	1.04	0.00000369	632
Loss of Function	1.12	7	11.0	0.635	7.71e-7	173

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000554	0.000525
Ashkenazi Jewish	0.00	0.00
East Asian	0.000144	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000245	0.0000176
Middle Eastern	0.000144	0.000109
South Asian	0.000105	0.0000653
Other	0.000221	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has a preference for arachidyl alcohol as well as decyl alcohol, demonstrating its relatively poor activity using saturated long chain alcohols (C16, C18, and C20). {ECO:0000269|PubMed:15671038}.
• Pathway: Vitamin A Deficiency;Retinol Metabolism;Metabolism of lipids;Arachidonic acid metabolism;Metabolism;Fatty acid metabolism;Wax biosynthesis (Consensus)

Recessive Scores

• pRec: 0.0948

Intolerance Scores

• loftool: 0.654
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.58

Haploinsufficiency Scores

• pHI: 0.236
• hipred: N
• hipred_score: 0.144
• ghis: 0.417

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.167

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Awat1

Gene ontology

• Biological process: wax biosynthetic process;arachidonic acid metabolic process
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: long-chain-alcohol O-fatty-acyltransferase activity;arachidoyl-CoA:1-dodecanol O-acyltransferase activity;wax ester synthase activity