EFR3B

EFR3 homolog B Q9Y2G0 EFR3B_HUMAN
Protein Coding Chr 2 2p23.3 Swiss-Prot reviewed Entrez 22979
Mutations
967
CL 199 · Tissue 758
Samples
303
CL 104 · Tissue 195
Peptides
249
unique mutant peptides
Transcripts
4
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
Mutations967199758
Samples303104195
Peptides24961196

Function

EFR3B · EFR3 homolog B

Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in actin cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

4 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
ENST00000403714 Q9Y2G0 320 232
ENST00000402191 E7ESK9* 232 193
ENST00000401432 Q9Y2G0-3 216 183
ENST00000405108 Q9Y2G0-2 199 166

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2p23.3
Entrez ID
Aliases
KIAA0953

Recurrent Mutations

All 232 amino-acid changes on canonical ENST00000403714 · 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 EFR3B · 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 EFR3B – 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
4/40 10%
0/0 0%
Endometrial Carcinoma
9/42 21%
17/612 3%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Unknown
0/10 0%
1/29 3%
Rhabdomyosarcoma
4/33 12%
0/171 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Colorectal Carcinoma
13/143 9%
33/3239 1%
Gastric Carcinoma
3/74 4%
19/1809 1%
Melanoma
10/210 5%
12/1899 1%
Squamous Cell Lung Carcinoma
5/57 9%
4/810 0%
Glioblastoma
1/98 1%
0/0 0%
Osteosarcoma
2/45 4%
0/166 0%
Hepatocellular Carcinoma
2/46 4%
18/2210 1%
Mesothelioma
1/62 2%
1/165 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Non-Cancerous
3/104 3%
4/830 0%
Biliary Tract Carcinoma
2/54 4%
5/950 1%
Other Solid Cancers
2/94 2%
9/1515 1%
Neuroendocrine Tumour
3/154 2%
2/577 0%
Cervical Carcinoma
0/35 0%
3/422 1%
Ovarian Carcinoma
3/109 3%
4/998 0%
Head and Neck Carcinoma
6/85 7%
3/1574 0%
Small Cell Lung Carcinoma
1/9 11%
3/752 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Other Sarcomas
0/69 0%
4/699 1%
Esophageal Squamous Cell Carcinoma
5/51 10%
8/2550 0%
Non-Small Cell Lung Carcinoma
4/304 1%
4/1390 0%
Breast Carcinoma
2/144 1%
13/3264 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Neuroblastoma
5/87 6%
0/1331 0%

Mutation Distribution

Where EFR3B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in EFR3B 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 967 mutations in EFR3B

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