LMF1

Lipase maturation factor 1 Q96S06 LMF1_HUMAN
Protein Coding Chr 16 16p13.3 Swiss-Prot reviewed Entrez 64788
Mutations
643
CL 156 · Tissue 480
Samples
288
CL 78 · Tissue 206
Peptides
221
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
Mutations643156480
Samples28878206
Peptides22153175

Function

LMF1 · Lipase maturation factor 1

Involved in triglyceride metabolic process. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial lipase maturation factor 1 deficiency. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000262301 Q96S06 300 211
ENST00000568897 H3BVI4* 178 125
ENST00000543238 Q96S06-2 165 114

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16p13.3
Entrez ID
Aliases
C16orf26HMFN1876JFP11TMEM112TMEM112A

Recurrent Mutations

All 211 amino-acid changes on canonical ENST00000262301 · 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 LMF1 · 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 LMF1 – 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-Cell Non-Hodgkins Lymphoma
2/26 8%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Melanoma
4/210 2%
34/1899 2%
Endometrial Carcinoma
2/42 5%
9/612 1%
Rhabdomyosarcoma
1/33 3%
2/171 1%
Colorectal Carcinoma
13/143 9%
35/3239 1%
Non-Small Cell Lung Carcinoma
14/304 5%
10/1390 1%
Other Solid Cancers
1/94 1%
15/1515 1%
Mesothelioma
2/62 3%
0/165 0%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Thyroid Gland Carcinoma
0/45 0%
13/1592 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Gastric Carcinoma
1/74 1%
13/1809 1%
Neuroendocrine Tumour
4/154 3%
1/577 0%
Cervical Carcinoma
0/35 0%
3/422 1%
Squamous Cell Lung Carcinoma
1/57 2%
4/810 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Other Sarcomas
0/69 0%
4/699 1%
Biliary Tract Carcinoma
1/54 2%
4/950 0%
Esophageal Squamous Cell Carcinoma
5/51 10%
8/2550 0%
Head and Neck Carcinoma
0/85 0%
6/1574 0%
Breast Carcinoma
6/144 4%
6/3264 0%
Non-Cancerous
0/104 0%
3/830 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Hepatocellular Carcinoma
1/46 2%
6/2210 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Ovarian Carcinoma
2/109 2%
1/998 0%

Mutation Distribution

Where LMF1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in LMF1 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 643 mutations in LMF1

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