SEZ6L Seizure related 6 homolog like Q9BYH1 SE6L1_HUMAN
Protein Coding Chr 22 22q12.1 Swiss-Prot reviewed Entrez 23544
Mutations
6,227
CL 574 · Tissue 5,437
Samples
844
CL 153 · Tissue 667
Peptides
671
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
Mutations6,2275745,437
Samples844153667
Peptides671111569

Function

SEZ6L · Seizure related 6 homolog like

Predicted to act upstream of or within adult locomotory behavior; nervous system development; and regulation of protein kinase C signaling. Predicted to be located in endoplasmic reticulum and neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000248933 Q9BYH1 933 594
ENST00000404234 Q9BYH1-6 834 561
ENST00000629590 Q9BYH1-7 827 556
ENST00000529632 B7ZLJ8* 825 554
ENST00000343706 Q9BYH1-5 794 530
ENST00000360929 Q9BYH1-4 741 508
ENST00000402979 B0QYH5* 656 438
ENST00000403121 B0QYH4* 617 407

Gene Properties

Type
Protein Coding
Chromosome
22
Cytoband
22q12.1
Entrez ID
Aliases
SEZ6L1

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 SEZ6L is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SEZ6L 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 6,227 mutations in SEZ6L

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