ELOVL7

ELOVL fatty acid elongase 7

Basic information

Region (hg38): 5:60751791-60844274

Links

ENSG00000164181 ∙ NCBI:79993 ∙ OMIM:614451 ∙ HGNC:26292 ∙ Uniprot:A1L3X0 ∙ 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 ELOVL7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELOVL7 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			20	1		21
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	20	2	0

Variants in ELOVL7

This is a list of pathogenic ClinVar variants found in the ELOVL7 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-60754643-C-T		not specified	Uncertain significance (Nov 06, 2023)
5-60754679-C-T		not specified	Uncertain significance (Apr 25, 2022)
5-60754772-T-A		not specified	Uncertain significance (Sep 14, 2022)
5-60754782-C-T		not specified	Uncertain significance (May 14, 2024)
5-60754799-T-C		not specified	Uncertain significance (Feb 05, 2024)
5-60754805-A-C		not specified	Uncertain significance (Apr 20, 2024)
5-60754833-C-A		not specified	Uncertain significance (May 31, 2023)
5-60757528-T-C		not specified	Uncertain significance (Aug 26, 2022)
5-60757573-G-T		not specified	Uncertain significance (Apr 09, 2024)
5-60757603-T-G		not specified	Uncertain significance (Dec 02, 2024)
5-60764286-T-C		not specified	Uncertain significance (Nov 13, 2023)
5-60764308-T-C		not specified	Uncertain significance (Oct 07, 2024)
5-60764316-C-T		not specified	Uncertain significance (Oct 25, 2024)
5-60766579-C-G		not specified	Uncertain significance (Mar 01, 2025)
5-60767842-C-T		not specified	Likely benign (Feb 13, 2024)
5-60767856-A-C		not specified	Uncertain significance (Jul 26, 2022)
5-60767866-C-T		not specified	Uncertain significance (Oct 01, 2024)
5-60767888-A-G		not specified	Uncertain significance (Jan 26, 2022)
5-60771949-G-A		not specified	Uncertain significance (May 10, 2022)
5-60772016-C-A		not specified	Uncertain significance (Jan 16, 2024)
5-60772027-T-C		not specified	Uncertain significance (Dec 28, 2022)
5-60787375-G-A		not specified	Uncertain significance (Feb 06, 2025)
5-60802642-C-T			Likely benign (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ELOVL7	protein_coding	protein_coding	ENST00000508821	7	92599

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0102	0.981	125666	0	76	125742	0.000302

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.903	122	153	0.795	0.00000789	1861
Missense in Polyphen		47	64.751	0.72586		814
Synonymous	-0.332	57	53.9	1.06	0.00000283	500
Loss of Function	2.28	6	15.8	0.380	7.37e-7	187

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000481	0.000481
Ashkenazi Jewish	0.00	0.00
East Asian	0.000275	0.000272
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000467	0.000466
Middle Eastern	0.000275	0.000272
South Asian	0.0000686	0.0000653
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0-, or C26:0-CoAs. May participate in the production of saturated and polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. {ECO:0000255|HAMAP-Rule:MF_03207, ECO:0000269|PubMed:19826053, ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:21959040}.
• Pathway: Fatty acid elongation - Homo sapiens (human);Metabolism of lipids;Fatty acyl-CoA biosynthesis;Metabolism;Fatty acid metabolism;Synthesis of very long-chain fatty acyl-CoAs (Consensus)

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.747
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.53

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.251
• ghis: 0.503

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0173

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Elovl7

Gene ontology

• Biological process: unsaturated fatty acid biosynthetic process;fatty acid elongation, saturated fatty acid;sphingolipid biosynthetic process;fatty acid elongation, monounsaturated fatty acid;fatty acid elongation, polyunsaturated fatty acid;long-chain fatty-acyl-CoA biosynthetic process;very long-chain fatty acid biosynthetic process
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;integral component of endoplasmic reticulum membrane
• Molecular function: protein binding;fatty acid elongase activity;3-oxo-arachidoyl-CoA synthase activity;3-oxo-cerotoyl-CoA synthase activity;3-oxo-lignoceronyl-CoA synthase activity;very-long-chain 3-ketoacyl-CoA synthase activity