EAF2

ELL associated factor 2 Q96CJ1 EAF2_HUMAN
Protein Coding Chr 3 3q13.33 Swiss-Prot reviewed Entrez 55840
Mutations
268
CL 63 · Tissue 203
Samples
148
CL 41 · Tissue 106
Peptides
116
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
Mutations26863203
Samples14841106
Peptides1162497

Function

EAF2 · ELL associated factor 2

Enables transcription elongation regulator activity. Involved in positive regulation of transcription by RNA polymerase II and regulation of transcription elongation from RNA polymerase II promoter. Part of transcription elongation factor complex. Biomarker of prostate cancer. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000273668 Q96CJ1 147 108
ENST00000451944 B4DWJ3* 121 93

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3q13.33
Entrez ID
Aliases
BM040TRAITSU19

Recurrent Mutations

All 108 amino-acid changes on canonical ENST00000273668 · 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 EAF2 · 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 EAF2 – 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
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Neuroendocrine Tumour
7/154 5%
1/577 0%
Endometrial Carcinoma
2/42 5%
5/612 1%
Glioblastoma
1/98 1%
0/0 0%
Melanoma
2/210 1%
16/1899 1%
Bladder Carcinoma
1/58 2%
6/956 1%
Non-Small Cell Lung Carcinoma
8/304 3%
3/1390 0%
Colorectal Carcinoma
5/143 4%
12/3239 0%
Osteosarcoma
1/45 2%
0/166 0%
Ovarian Carcinoma
3/109 3%
2/998 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Other Solid Cancers
0/94 0%
6/1515 0%
Squamous Cell Lung Carcinoma
1/57 2%
2/810 0%
Glioma
1/52 2%
6/2127 0%
Kidney Carcinoma
0/85 0%
6/1862 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Hepatocellular Carcinoma
1/46 2%
5/2210 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Gastric Carcinoma
0/74 0%
4/1809 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
4/2550 0%
Prostate Carcinoma
0/13 0%
4/2105 0%
Head and Neck Carcinoma
1/85 1%
2/1574 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
Breast Carcinoma
2/144 1%
3/3264 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Other Sarcomas
0/69 0%
1/699 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
3/2534 0%
Biliary Tract Carcinoma
1/54 2%
0/950 0%
Neuroblastoma
0/87 0%
1/1331 0%

Mutation Distribution

Where EAF2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in EAF2 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 268 mutations in EAF2

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