FAR1

Fatty acyl-CoA reductase 1 Q8WVX9 FACR1_HUMAN
Protein Coding Chr 11 11p15.3 Swiss-Prot reviewed Entrez 84188
Mutations
260
CL 26 · Tissue 225
Samples
199
CL 25 · Tissue 170
Peptides
178
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
Mutations26026225
Samples19925170
Peptides17818153

Function

FAR1 · Fatty acyl-CoA reductase 1

The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015].

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
ENST00000354817 Q8WVX9 210 172
ENST00000532502 - 50 37

Gene Properties

Type
Protein Coding
Chromosome
11
Cytoband
11p15.3
Entrez ID
Aliases
CSPSDMLSTD2PFCRDSDR10E1

Recurrent Mutations

All 172 amino-acid changes on canonical ENST00000354817 · 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 FAR1 · 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 FAR1 – 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%
13/612 2%
Melanoma
3/210 1%
19/1899 1%
Colorectal Carcinoma
4/143 3%
31/3239 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Gastric Carcinoma
0/74 0%
13/1809 1%
Neuroendocrine Tumour
4/154 3%
1/577 0%
Non-Small Cell Lung Carcinoma
0/304 0%
11/1390 1%
Other Solid Cancers
0/94 0%
10/1515 1%
Squamous Cell Lung Carcinoma
0/57 0%
5/810 1%
Plasma Cell Myeloma
0/44 0%
2/305 1%
Bladder Carcinoma
0/58 0%
5/956 1%
Thyroid Gland Carcinoma
1/45 2%
7/1592 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Mesothelioma
0/62 0%
1/165 1%
Hepatocellular Carcinoma
0/46 0%
10/2210 0%
Non-Cancerous
0/104 0%
4/830 0%
Head and Neck Carcinoma
1/85 1%
6/1574 0%
Biliary Tract Carcinoma
1/54 2%
3/950 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Pancreatic Carcinoma
1/89 1%
3/1611 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Kidney Carcinoma
0/85 0%
4/1862 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
2/2534 0%
Breast Carcinoma
0/144 0%
4/3264 0%
Glioma
0/52 0%
2/2127 0%
Neuroblastoma
0/87 0%
1/1331 0%
Other Blood Cancers
2/61 3%
0/2725 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%

Mutation Distribution

Where FAR1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAR1 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 260 mutations in FAR1

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