SLC27A6

solute carrier family 27 member 6, the group of Acyl-CoA synthetase family|Solute carrier family 27

Basic information

Region (hg38): 5:128538012-129033642

Links

ENSG00000113396 ∙ NCBI:28965 ∙ OMIM:604196 ∙ HGNC:11000 ∙ Uniprot:Q9Y2P4 ∙ 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 SLC27A6 gene.

• Inborn genetic diseases (30 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC27A6 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			28	2		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	2	0

Variants in SLC27A6

This is a list of pathogenic ClinVar variants found in the SLC27A6 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-128538033-T-G		Congenital contractural arachnodactyly	Uncertain significance (Mar 16, 2018)
5-128538038-G-A		Congenital contractural arachnodactyly	Benign (Jun 16, 2018)
5-128538051-G-A		Congenital contractural arachnodactyly	Likely benign (Jun 14, 2016)
5-128538114-C-T			Benign (Jun 18, 2018)
5-128538228-C-G			Benign (Jun 18, 2018)
5-128538265-G-T			Likely benign (Jun 19, 2018)
5-128538274-A-G			Benign (Jun 18, 2018)
5-128538300-G-C			Benign (Jun 18, 2018)
5-128966181-T-C		not specified	Uncertain significance (Oct 10, 2023)
5-128966184-T-G		not specified	Uncertain significance (Apr 12, 2023)
5-128966249-G-A		not specified	Uncertain significance (Aug 22, 2023)
5-128966265-G-A		not specified	Uncertain significance (May 18, 2022)
5-128966267-C-G		not specified	Uncertain significance (May 11, 2022)
5-128966286-G-A		not specified	Likely benign (May 31, 2023)
5-128966313-A-T		not specified	Uncertain significance (Dec 17, 2023)
5-128966361-A-G		not specified	Uncertain significance (Aug 17, 2021)
5-128966498-G-A		not specified	Uncertain significance (Feb 02, 2022)
5-128966589-G-GAGGAATCACCACACTGTCTTCCACAATGGTTGAACTAGTTTACAC		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)
5-128985142-G-C		not specified	Uncertain significance (Nov 08, 2022)
5-128985178-A-C		not specified	Uncertain significance (Feb 27, 2023)
5-128985192-G-A		not specified	Uncertain significance (Mar 01, 2024)
5-128985270-C-T		not specified	Uncertain significance (Jun 27, 2022)
5-128985279-C-T		not specified	Uncertain significance (Dec 11, 2023)
5-128985309-C-T		not specified	Uncertain significance (Jul 20, 2021)
5-128988645-G-T		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC27A6	protein_coding	protein_coding	ENST00000262462	10	495630

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.43e-18	0.00401	124692	3	1053	125748	0.00421

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0829	330	326	1.01	0.0000168	4010
Missense in Polyphen		110	122.04	0.90136		1550
Synonymous	-0.891	132	120	1.10	0.00000641	1190
Loss of Function	-0.0151	27	26.9	1.00	0.00000129	361

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00577	0.00576
Ashkenazi Jewish	0.00	0.00
East Asian	0.000599	0.000598
Finnish	0.0130	0.0130
European (Non-Finnish)	0.00418	0.00401
Middle Eastern	0.000599	0.000598
South Asian	0.00359	0.00353
Other	0.00591	0.00555

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Thought to function as the predominant fatty acid protein transporter in heart. {ECO:0000269|PubMed:12556534}.
• Pathway: Insulin resistance - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);PPAR signaling pathway;Transport of fatty acids;Transport of vitamins, nucleosides, and related molecules;SLC-mediated transmembrane transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.0887

Intolerance Scores

• loftool: 0.984
• rvis_EVS: -0.13
• rvis_percentile_EVS: 43.98

Haploinsufficiency Scores

• pHI: 0.0483
• hipred: N
• hipred_score: 0.251
• ghis: 0.417

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.594

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc27a6

Gene ontology

• Biological process: very long-chain fatty acid metabolic process;long-chain fatty acid metabolic process;long-chain fatty acid transport
• Cellular component: plasma membrane;integral component of membrane;sarcolemma
• Molecular function: nucleotide binding;long-chain fatty acid-CoA ligase activity;long-chain fatty acid transporter activity;fatty acid transmembrane transporter activity;very long-chain fatty acid-CoA ligase activity