FAXDC2

Fatty acid hydroxylase domain containing 2 Q96IV6 FXDC2_HUMAN
Protein Coding Chr 5 5q33.2 Swiss-Prot reviewed Entrez 10826
Mutations
332
CL 56 · Tissue 271
Samples
143
CL 33 · Tissue 106
Peptides
121
unique mutant peptides
Transcripts
4
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
Mutations33256271
Samples14333106
Peptides12121100

Function

FAXDC2 · Fatty acid hydroxylase domain containing 2

Predicted to enable C-4 methylsterol oxidase activity. Involved in positive regulation of megakaryocyte differentiation and positive regulation of protein phosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

4 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
ENST00000326080 Q96IV6 145 107
ENST00000517938 Q96IV6-2 119 96
ENST00000518651 E5RH66* 37 28
ENST00000520968 E5RIK6* 31 27

Gene Properties

Type
Protein Coding
Chromosome
5
Cytoband
5q33.2
Entrez ID
Aliases
C5orf4

Recurrent Mutations

All 107 amino-acid changes on canonical ENST00000326080 · 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 FAXDC2 · 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 FAXDC2 – 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%
12/612 2%
Colorectal Carcinoma
7/143 5%
18/3239 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Ovarian Carcinoma
5/109 5%
3/998 0%
Melanoma
0/210 0%
15/1899 1%
Bladder Carcinoma
1/58 2%
6/956 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Neuroendocrine Tumour
2/154 1%
2/577 0%
Mesothelioma
0/62 0%
1/165 1%
Glioma
0/52 0%
7/2127 0%
Thyroid Gland Carcinoma
1/45 2%
4/1592 0%
Other Solid Cancers
1/94 1%
4/1515 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Non-Small Cell Lung Carcinoma
4/304 1%
0/1390 0%
Squamous Cell Lung Carcinoma
0/57 0%
2/810 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Medulloblastoma
0/0 0%
1/450 0%
Breast Carcinoma
0/144 0%
7/3264 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
5/2534 0%
Prostate Carcinoma
2/13 15%
2/2105 0%
Head and Neck Carcinoma
1/85 1%
2/1574 0%
Kidney Carcinoma
0/85 0%
3/1862 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Gastric Carcinoma
0/74 0%
2/1809 0%
Non-Cancerous
0/104 0%
1/830 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
0/2550 0%
B-Lymphoblastic Leukemia
2/55 4%
0/2640 0%
Other Blood Cancers
0/61 0%
1/2725 0%

Mutation Distribution

Where FAXDC2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAXDC2 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 332 mutations in FAXDC2

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