EXD2

Exonuclease 3'-5' domain containing 2 Q9NVH0 EXD2_HUMAN
Protein Coding Chr 14 14q24.1 Swiss-Prot reviewed Entrez 55218
Mutations
1,399
CL 229 · Tissue 1,158
Samples
278
CL 75 · Tissue 201
Peptides
194
unique mutant peptides
Transcripts
7
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
Mutations1,3992291,158
Samples27875201
Peptides19444152

Function

EXD2 · Exonuclease 3'-5' domain containing 2

Enables 3'-5' exonuclease activity; metal ion binding activity; and protein homodimerization activity. Involved in nucleic acid metabolic process. Located in intermediate filament cytoskeleton; mitochondrial outer membrane; and site of DNA damage. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

7 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
ENST00000312994 Q9NVH0 252 178
ENST00000409018 Q9NVH0 252 178
ENST00000409014 Q9NVH0-2 215 152
ENST00000409242 Q9NVH0-2 214 152
ENST00000409675 Q9NVH0-2 214 152
ENST00000409949 Q9NVH0-2 214 152
ENST00000685843 Q9NVH0 38 33

Gene Properties

Type
Protein Coding
Chromosome
14
Cytoband
14q24.1
Entrez ID
Aliases
C14orf114EXDL2

Recurrent Mutations

All 178 amino-acid changes on canonical ENST00000312994 · 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 EXD2 · 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 EXD2 – 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-Cell Non-Hodgkins Lymphoma
4/26 15%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Melanoma
4/210 2%
43/1899 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Glioblastoma
2/98 2%
0/0 0%
Endometrial Carcinoma
1/42 2%
11/612 2%
Non-Small Cell Lung Carcinoma
18/304 6%
5/1390 0%
Germ Cell Tumour
2/25 8%
0/169 0%
Colorectal Carcinoma
8/143 6%
26/3239 1%
Squamous Cell Lung Carcinoma
2/57 4%
6/810 1%
Gastric Carcinoma
6/74 8%
9/1809 0%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Neuroendocrine Tumour
0/154 0%
5/577 1%
Cervical Carcinoma
1/35 3%
2/422 0%
Non-Cancerous
0/104 0%
6/830 1%
Ewings Sarcoma
2/63 3%
0/262 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
15/2550 1%
Other Solid Cancers
1/94 1%
8/1515 1%
Other Sarcomas
1/69 1%
3/699 0%
Bladder Carcinoma
0/58 0%
5/956 1%
Head and Neck Carcinoma
4/85 5%
4/1574 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%
Biliary Tract Carcinoma
0/54 0%
4/950 0%
Breast Carcinoma
3/144 2%
8/3264 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Ovarian Carcinoma
0/109 0%
3/998 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%

Mutation Distribution

Where EXD2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in EXD2 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 1,399 mutations in EXD2

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