LRRK2

Leucine rich repeat kinase 2 Q5S007 LRRK2_HUMAN
Protein Coding Chr 12 12q12 Swiss-Prot reviewed Entrez 120892
Mutations
2,650
CL 435 · Tissue 2,175
Samples
1,555
CL 292 · Tissue 1,232
Peptides
1,326
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
Mutations2,6504352,175
Samples1,5552921,232
Peptides1,3262121,136

Function

LRRK2 · Leucine rich repeat kinase 2

This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008].

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
ENST00000298910 Q5S007 1,847 1,317
ENST00000343742 E9PC85* 803 624

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q12
Entrez ID
Aliases
AURA17DARDARINPARK8RIPK7ROCO2

Recurrent Mutations

All 1319 amino-acid changes on canonical ENST00000298910 · 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 LRRK2 · 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 LRRK2 – 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
16/42 38%
64/612 10%
Squamous Cell Lung Carcinoma
4/57 7%
82/810 10%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Melanoma
24/210 11%
128/1899 7%
Gastric Carcinoma
15/74 20%
119/1809 7%
Non-Small Cell Lung Carcinoma
37/304 12%
63/1390 5%
Bladder Carcinoma
3/58 5%
56/956 6%
Colorectal Carcinoma
36/143 25%
156/3239 5%
Oral Cavity Carcinoma
3/54 6%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
7/133 5%
Small Cell Lung Carcinoma
0/9 0%
34/752 5%
Neuroendocrine Tumour
26/154 17%
5/577 1%
Other Solid Cancers
2/94 2%
65/1515 4%
Glioblastoma
4/98 4%
0/0 0%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Cervical Carcinoma
2/35 6%
15/422 4%
Ovarian Carcinoma
10/109 9%
31/998 3%
Head and Neck Carcinoma
11/85 13%
49/1574 3%
Hodgkins Lymphoma
4/16 25%
1/122 1%
Germ Cell Tumour
4/25 16%
3/169 2%
Esophageal Carcinoma
3/23 13%
22/769 3%
Chondrosarcoma
2/14 14%
0/75 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Other Sarcomas
6/69 9%
11/699 2%
Hepatocellular Carcinoma
3/46 7%
43/2210 2%
Rhabdomyosarcoma
1/33 3%
3/171 2%
Kidney Carcinoma
6/85 7%
31/1862 2%
Thyroid Gland Carcinoma
2/45 4%
28/1592 2%
Non-Cancerous
1/104 1%
16/830 2%

Mutation Distribution

Where LRRK2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in LRRK2 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 2,650 mutations in LRRK2

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