FECH

Ferrochelatase P22830 HEMH_HUMAN
Protein Coding Chr 18 18q21.31 Swiss-Prot reviewed Entrez 2235
Mutations
405
CL 96 · Tissue 297
Samples
242
CL 77 · Tissue 154
Peptides
156
unique mutant peptides
Transcripts
3
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
Mutations40596297
Samples24277154
Peptides15628126

Function

FECH · Ferrochelatase

The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010].

Isoforms & Proteins

3 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
ENST00000262093 P22830 265 146
ENST00000652755 P22830-2 128 92
ENST00000382873 A0A499FJN5* 12 7

Gene Properties

Type
Protein Coding
Chromosome
18
Cytoband
18q21.31
Entrez ID
Aliases
EPPEPP1FCE

Recurrent Mutations

All 146 amino-acid changes on canonical ENST00000262093 · 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 FECH · 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 FECH – 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
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
4/42 10%
13/612 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Rhabdomyosarcoma
0/33 0%
3/171 2%
Melanoma
3/210 1%
24/1899 1%
Squamous Cell Lung Carcinoma
3/57 5%
8/810 1%
Non-Small Cell Lung Carcinoma
10/304 3%
11/1390 1%
Cervical Carcinoma
3/35 9%
2/422 0%
Germ Cell Tumour
1/25 4%
1/169 1%
Glioblastoma
1/98 1%
0/0 0%
Other Solid Cancers
3/94 3%
13/1515 1%
Mesothelioma
2/62 3%
0/165 0%
Ovarian Carcinoma
7/109 6%
2/998 0%
Non-Cancerous
1/104 1%
6/830 1%
Hepatocellular Carcinoma
1/46 2%
13/2210 1%
Ewings Sarcoma
1/63 2%
1/262 0%
Gastric Carcinoma
1/74 1%
10/1809 1%
Colorectal Carcinoma
6/143 4%
12/3239 0%
Esophageal Carcinoma
1/23 4%
3/769 0%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Bladder Carcinoma
1/58 2%
3/956 0%
Small Cell Lung Carcinoma
1/9 11%
2/752 0%
Neuroblastoma
4/87 5%
1/1331 0%
Glioma
1/52 2%
6/2127 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Pancreatic Carcinoma
4/89 4%
1/1611 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in FECH 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 405 mutations in FECH

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