ELOVL6

ELOVL fatty acid elongase 6 Q9H5J4 ELOV6_HUMAN
Protein Coding Chr 4 4q25 Swiss-Prot reviewed Entrez 79071
Mutations
208
CL 20 · Tissue 176
Samples
103
CL 15 · Tissue 84
Peptides
93
unique mutant peptides
Transcripts
2
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations20820176
Samples1031584
Peptides93978

Function

ELOVL6 · ELOVL fatty acid elongase 6

Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008].

Isoforms & Proteins

2 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000302274 Q9H5J4 110 93
ENST00000394607 Q9H5J4 98 88

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q25
Entrez ID
Aliases
FACEFAELCEhELO2

Recurrent Mutations

All 93 amino-acid changes on canonical ENST00000302274 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in ELOVL6 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ELOVL6 – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
Endometrial Carcinoma
4/42 10%
8/612 1%
Colorectal Carcinoma
5/143 4%
18/3239 1%
Melanoma
0/210 0%
11/1899 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Meningioma
1/3 33%
0/252 0%
Non-Cancerous
0/104 0%
3/830 0%
Non-Small Cell Lung Carcinoma
0/304 0%
5/1390 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Gastric Carcinoma
0/74 0%
4/1809 0%
Breast Carcinoma
0/144 0%
7/3264 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
3/2550 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
3/2534 0%
B-Lymphoblastic Leukemia
3/55 5%
0/2640 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Prostate Carcinoma
0/13 0%
2/2105 0%
Glioma
0/52 0%
2/2127 0%
Other Solid Cancers
0/94 0%
1/1515 0%
Thyroid Gland Carcinoma
1/45 2%
0/1592 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
Other Blood Cancers
0/61 0%
1/2725 0%

Mutation Distribution

Where ELOVL6 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ELOVL6 were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 208 mutations in ELOVL6

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide