KCNE1 Potassium voltage-gated channel subfamily E regulatory subunit 1 P15382 KCNE1_HUMAN
Protein Coding Chr 21 21q22.12 Swiss-Prot reviewed Entrez 3753
Mutations
1,120
CL 64 · Tissue 1,056
Samples
139
CL 8 · Tissue 131
Peptides
56
unique mutant peptides
Transcripts
8
isoforms mutated

Stats by Source

Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Global = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

GlobalCell lineTissue
Mutations1,120641,056
Samples1398131
Peptides56751

Function

KCNE1 · Potassium voltage-gated channel subfamily E regulatory subunit 1

The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

8 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
ENST00000337385 P15382 140 56
ENST00000399284 P15382 140 56
ENST00000399286 P15382 140 56
ENST00000399289 P15382 140 56
ENST00000416357 P15382 140 56
ENST00000432085 P15382 140 56
ENST00000611936 P15382 140 56
ENST00000621601 P15382 140 56

Gene Properties

Type
Protein Coding
Chromosome
21
Cytoband
21q22.12
Entrez ID
Aliases
ISKJLNSJLNS2LQT2/5LQT5MinK

Recurrent Mutations

Top recurrent amino-acid changes along the protein · needle height = number of mutations

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 Distribution

Where KCNE1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KCNE1 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 1,120 mutations in KCNE1

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 CDSTypeSourcePeptide