LRP6

LDL receptor related protein 6 O75581 LRP6_HUMAN
Protein Coding Chr 12 12p13.2 Swiss-Prot reviewed Entrez 4040
Mutations
1,408
CL 186 · Tissue 1,177
Samples
676
CL 110 · Tissue 544
Peptides
545
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
Mutations1,4081861,177
Samples676110544
Peptides54583461

Function

LRP6 · LDL receptor related protein 6

This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009].

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
ENST00000261349 O75581 742 539
ENST00000543091 F5H7J9* 664 496
ENST00000628182 O75581 2 2

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p13.2
Entrez ID
Aliases
ADCAD2EVR8OPTA4STHAG7

Recurrent Mutations

All 539 amino-acid changes on canonical ENST00000261349 · 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 LRP6 · 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 LRP6 – 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
6/40 15%
0/0 0%
Endometrial Carcinoma
8/42 19%
32/612 5%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Cervical Carcinoma
1/35 3%
14/422 3%
Gastrointestinal Stromal Tumour
0/0 0%
4/133 3%
Colorectal Carcinoma
17/143 12%
80/3239 2%
Melanoma
7/210 3%
53/1899 3%
Bladder Carcinoma
5/58 9%
22/956 2%
Other Solid Cancers
2/94 2%
38/1515 3%
Non-Small Cell Lung Carcinoma
13/304 4%
25/1390 2%
Squamous Cell Lung Carcinoma
1/57 2%
18/810 2%
Head and Neck Carcinoma
4/85 5%
31/1574 2%
Mesothelioma
2/62 3%
2/165 1%
Esophageal Carcinoma
0/23 0%
13/769 2%
Germ Cell Tumour
1/25 4%
2/169 1%
Gastric Carcinoma
3/74 4%
26/1809 1%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Burkitts Lymphoma
3/32 9%
0/196 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
31/2550 1%
Non-Cancerous
0/104 0%
11/830 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Hepatocellular Carcinoma
0/46 0%
25/2210 1%
Ovarian Carcinoma
5/109 5%
7/998 1%
Ewings Sarcoma
2/63 3%
1/262 0%
Thyroid Gland Carcinoma
0/45 0%
15/1592 1%
Neuroendocrine Tumour
5/154 3%
1/577 0%
Breast Carcinoma
4/144 3%
24/3264 1%
Glioma
0/52 0%
17/2127 1%
Other Sarcomas
2/69 3%
4/699 1%

Mutation Distribution

Where LRP6 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in LRP6 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 1,408 mutations in LRP6

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