ELMOD2

ELMO domain containing 2 Q8IZ81 ELMD2_HUMAN
Protein Coding Chr 4 4q31.1 Swiss-Prot reviewed Entrez 255520
Mutations
135
CL 22 · Tissue 111
Samples
98
CL 19 · Tissue 78
Peptides
86
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
Mutations13522111
Samples981978
Peptides861573

Function

ELMOD2 · ELMO domain containing 2

This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010].

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
ENST00000323570 Q8IZ81 103 79
ENST00000511887 V9GY58* 32 24

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q31.1
Entrez ID
Aliases
9830169G11Rik

Recurrent Mutations

All 79 amino-acid changes on canonical ENST00000323570 · 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 ELMOD2 · 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 ELMOD2 – 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
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Endometrial Carcinoma
5/42 12%
7/612 1%
Glioblastoma
1/98 1%
0/0 0%
Melanoma
2/210 1%
15/1899 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Gastric Carcinoma
0/74 0%
7/1809 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Colorectal Carcinoma
2/143 1%
9/3239 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
7/2550 0%
Small Cell Lung Carcinoma
2/9 22%
0/752 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Non-Small Cell Lung Carcinoma
0/304 0%
3/1390 0%
Neuroblastoma
2/87 2%
0/1331 0%
Other Sarcomas
0/69 0%
1/699 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%
Other Solid Cancers
0/94 0%
2/1515 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Head and Neck Carcinoma
0/85 0%
1/1574 0%
Breast Carcinoma
0/144 0%
2/3264 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
Glioma
0/52 0%
1/2127 0%
Other Blood Cancers
0/61 0%
1/2725 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%

Mutation Distribution

Where ELMOD2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ELMOD2 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 135 mutations in ELMOD2

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