ELMO1

Engulfment and cell motility 1 Q92556 ELMO1_HUMAN
Protein Coding Chr 7 7p14.2-p14.1 Swiss-Prot reviewed Entrez 9844
Mutations
2,232
CL 305 · Tissue 1,893
Samples
634
CL 140 · Tissue 485
Peptides
437
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
Mutations2,2323051,893
Samples634140485
Peptides43784368

Function

ELMO1 · Engulfment and cell motility 1

This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].

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
ENST00000310758 Q92556 687 433
ENST00000448602 Q92556 599 410
ENST00000442504 Q92556 598 409
ENST00000396040 Q92556-2 174 122
ENST00000396045 Q92556-2 174 122

Gene Properties

Type
Protein Coding
Chromosome
7
Cytoband
7p14.2-p14.1
Entrez ID
Aliases
CED-12CED12ELMO-1

Recurrent Mutations

All 433 amino-acid changes on canonical ENST00000310758 · 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 ELMO1 · 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 ELMO1 – 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
10/40 25%
0/0 0%
Chronic Myelogenous Leukemia
4/25 16%
0/0 0%
Melanoma
17/210 8%
81/1899 4%
Endometrial Carcinoma
4/42 10%
23/612 4%
Non-Small Cell Lung Carcinoma
21/304 7%
33/1390 2%
Colorectal Carcinoma
21/143 15%
75/3239 2%
Gastric Carcinoma
2/74 3%
51/1809 3%
Esophageal Carcinoma
4/23 17%
17/769 2%
Unknown
0/10 0%
1/29 3%
Squamous Cell Lung Carcinoma
5/57 9%
17/810 2%
Other Solid Cancers
0/94 0%
34/1515 2%
Bladder Carcinoma
3/58 5%
13/956 1%
Neuroendocrine Tumour
9/154 6%
2/577 0%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Mesothelioma
2/62 3%
1/165 1%
Cervical Carcinoma
0/35 0%
6/422 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Germ Cell Tumour
2/25 8%
0/169 0%
Head and Neck Carcinoma
0/85 0%
16/1574 1%
Small Cell Lung Carcinoma
0/9 0%
7/752 1%
Non-Cancerous
0/104 0%
7/830 1%
Ovarian Carcinoma
6/109 6%
2/998 0%
Pancreatic Carcinoma
4/89 4%
8/1611 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
17/2550 1%
Thyroid Gland Carcinoma
1/45 2%
10/1592 1%
Glioma
0/52 0%
14/2127 1%
Breast Carcinoma
6/144 4%
15/3264 0%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Kidney Carcinoma
4/85 5%
6/1862 0%
Biliary Tract Carcinoma
2/54 4%
3/950 0%

Mutation Distribution

Where ELMO1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ELMO1 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 2,232 mutations in ELMO1

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