ADGRE1

Adhesion G protein-coupled receptor E1 Q14246 AGRE1_HUMAN
Protein Coding Chr 19 19p13.3-p13.2 Swiss-Prot reviewed Entrez 2015
Mutations
3,082
CL 319 · Tissue 2,746
Samples
618
CL 95 · Tissue 518
Peptides
526
unique mutant peptides
Transcripts
5
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
Mutations3,0823192,746
Samples61895518
Peptides52672472

Function

ADGRE1 · Adhesion G protein-coupled receptor E1

This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].

Isoforms & Proteins

5 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
ENST00000312053 Q14246 724 447
ENST00000250572 Q14246-2 640 417
ENST00000381404 Q14246-3 628 406
ENST00000381407 Q14246-5 553 352
ENST00000450315 Q14246-4 537 351

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.3-p13.2
Entrez ID
Aliases
EMR1TM7LN3

Recurrent Mutations

All 447 amino-acid changes on canonical ENST00000312053 · 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 ADGRE1 · 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 ADGRE1 – 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
3/40 8%
0/0 0%
Melanoma
14/210 7%
111/1899 6%
Endometrial Carcinoma
5/42 12%
26/612 4%
Non-Small Cell Lung Carcinoma
14/304 5%
35/1390 3%
Squamous Cell Lung Carcinoma
0/57 0%
21/810 3%
Other Solid Cancers
3/94 3%
34/1515 2%
Colorectal Carcinoma
7/143 5%
65/3239 2%
Bladder Carcinoma
3/58 5%
15/956 2%
Neuroendocrine Tumour
10/154 6%
2/577 0%
Small Cell Lung Carcinoma
0/9 0%
12/752 2%
Hepatocellular Carcinoma
1/46 2%
28/2210 1%
Gastric Carcinoma
0/74 0%
24/1809 1%
Ewings Sarcoma
4/63 6%
0/262 0%
Ovarian Carcinoma
9/109 8%
4/998 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Glioblastoma
1/98 1%
0/0 0%
Esophageal Carcinoma
1/23 4%
7/769 1%
Biliary Tract Carcinoma
2/54 4%
7/950 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Head and Neck Carcinoma
1/85 1%
13/1574 1%
Glioma
2/52 4%
16/2127 1%
Other Sarcomas
2/69 3%
4/699 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Pancreatic Carcinoma
0/89 0%
11/1611 1%
Non-Cancerous
0/104 0%
6/830 1%
Neuroblastoma
2/87 2%
6/1331 0%
Breast Carcinoma
3/144 2%
16/3264 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Thyroid Gland Carcinoma
0/45 0%
8/1592 0%
Osteosarcoma
0/45 0%
1/166 1%

Mutation Distribution

Where ADGRE1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ADGRE1 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 3,082 mutations in ADGRE1

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