TECRL

trans-2,3-enoyl-CoA reductase like, the group of Steroid 5-alpha reductase family

Basic information

Region (hg38): 4:64275257-64409468

Links

ENSG00000205678 ∙ NCBI:253017 ∙ OMIM:617242 ∙ HGNC:27365 ∙ Uniprot:Q5HYJ1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• catecholaminergic polymorphic ventricular tachycardia 3 (Moderate), mode of inheritance: AR
• catecholaminergic polymorphic ventricular tachycardia (Supportive), mode of inheritance: AD
• catecholaminergic polymorphic ventricular tachycardia 3 (Limited), mode of inheritance: AR
• catecholaminergic polymorphic ventricular tachycardia 3 (Definitive), mode of inheritance: AR
• catecholaminergic polymorphic ventricular tachycardia 3 (Strong), mode of inheritance: AR
• catecholaminergic polymorphic ventricular tachycardia (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ventricular tachycardia, catecholaminergic polymorphic, 3	AR	Cardiovascular	The condition can include cardiac arrest and sudden cardiac death, and medical and surgical interventions (eg, with ICD) has been described as beneficial	Cardiovascular	17666061; 27861123

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TECRL gene.

• Cardiovascular_phenotype (265 variants)
• not_provided (57 variants)
• Catecholaminergic_polymorphic_ventricular_tachycardia_3 (15 variants)
• not_specified (12 variants)
• TECRL-related_disorder (10 variants)
• Catecholaminergic_polymorphic_ventricular_tachycardia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TECRL gene is commonly pathogenic or not. These statistics are base on transcript: NM_001010874.5. 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	56		58
missense		1	163	16		180
nonsense	6	2	1			9
start loss						0
frameshift	6	3	1			10
splice donor/acceptor (+/-2bp)	1	6				7
Total	13	12	167	72	0

Highest pathogenic variant AF is 0.0000607821

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TECRL	protein_coding	protein_coding	ENST00000381210	12	134212

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.20e-12	0.0825	125689	0	57	125746	0.000227

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.415	197	181	1.09	0.00000876	2348
Missense in Polyphen		69	61.355	1.1246		837
Synonymous	-0.573	66	60.3	1.09	0.00000279	650
Loss of Function	0.448	19	21.2	0.895	0.00000103	270

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000374	0.000372
Ashkenazi Jewish	0.00	0.00
East Asian	0.000401	0.000381
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000261	0.000246
Middle Eastern	0.000401	0.000381
South Asian	0.000462	0.000457
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Metabolism of lipids;Fatty acyl-CoA biosynthesis;Metabolism;Fatty acid metabolism;Synthesis of very long-chain fatty acyl-CoAs (Consensus)

Intolerance Scores

• loftool: 0.868
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.41

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.216
• ghis: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0971

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tecrl

Gene ontology

• Biological process: very long-chain fatty acid biosynthetic process;oxidation-reduction process
• Cellular component: endoplasmic reticulum;integral component of membrane
• Molecular function: oxidoreductase activity;oxidoreductase activity, acting on the CH-CH group of donors