THEM5

thioesterase superfamily member 5, the group of Thioesterase superfamily

Basic information

Region (hg38): 1:151847100-151853712

Links

ENSG00000196407 ∙ NCBI:284486 ∙ OMIM:615653 ∙ HGNC:26755 ∙ Uniprot:Q8N1Q8 ∙ 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 THEM5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THEM5 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			10	3		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	10	4	0

Variants in THEM5

This is a list of pathogenic ClinVar variants found in the THEM5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-151847242-AGGAGGCAGGAGGCAGGCAGG-A			Likely benign (Feb 01, 2023)
1-151847396-T-A		not specified	Uncertain significance (Feb 11, 2022)
1-151847414-C-T		not specified	Uncertain significance (May 17, 2023)
1-151847749-G-T		not specified	Uncertain significance (Mar 15, 2024)
1-151847780-C-T		not specified	Likely benign (Feb 17, 2023)
1-151847795-A-C		not specified	Uncertain significance (Jul 26, 2022)
1-151847828-C-T		not specified	Likely benign (Mar 28, 2023)
1-151848264-T-C		not specified	Uncertain significance (Oct 06, 2021)
1-151848282-C-T		not specified	Likely benign (Jul 14, 2021)
1-151848285-G-A		not specified	Uncertain significance (Sep 30, 2021)
1-151851086-A-G		not specified	Uncertain significance (Aug 22, 2023)
1-151851174-T-A		not specified	Uncertain significance (Jan 03, 2024)
1-151851188-T-C		not specified	Uncertain significance (Jan 10, 2022)
1-151852317-T-G		not specified	Uncertain significance (Apr 08, 2024)
1-151852342-C-T		not specified	Uncertain significance (Jul 25, 2023)
1-151852455-G-A		not specified	Uncertain significance (Jul 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
THEM5	protein_coding	protein_coding	ENST00000368817	6	6435

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.79e-11	0.0137	125666	2	80	125748	0.000326

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.234	127	135	0.943	0.00000694	1609
Missense in Polyphen		31	31.859	0.97303		404
Synonymous	0.935	46	54.8	0.839	0.00000309	483
Loss of Function	-0.973	14	10.6	1.32	4.46e-7	134

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00105	0.00105
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000283	0.000281
Middle Eastern	0.000163	0.000163
South Asian	0.000784	0.000752
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has acyl-CoA thioesterase activity towards long-chain (C16 and C18) fatty acyl-CoA substrates, with a preference for linoleoyl-CoA and other unsaturated long-chain fatty acid-CoA esters. Plays an important role in mitochondrial fatty acid metabolism, and in remodeling of the mitochondrial lipid cardiolipin. Required for normal mitochondrial function. {ECO:0000269|PubMed:22586271}.
• Pathway: Fatty acid elongation - Homo sapiens (human);Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism (Consensus)

Intolerance Scores

• loftool: 0.799
• rvis_EVS: 1.01
• rvis_percentile_EVS: 90.84

Haploinsufficiency Scores

• pHI: 0.0636
• hipred: N
• hipred_score: 0.144

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0000350

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Them5
• Phenotype: liver/biliary system phenotype; homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: fatty acid metabolic process;acyl-CoA metabolic process;long-chain fatty-acyl-CoA metabolic process;cardiolipin acyl-chain remodeling
• Cellular component: mitochondrial matrix
• Molecular function: protein binding;palmitoyl-CoA hydrolase activity;acyl-CoA hydrolase activity;myristoyl-CoA hydrolase activity