NRXN1 Neurexin 1 Q9ULB1 NRX1A_HUMAN
Protein Coding Chr 2 2p16.3 Swiss-Prot reviewed Entrez 9378
Mutations
16,042
CL 1,498 · Tissue 13,971
Samples
1,844
CL 302 · Tissue 1,485
Peptides
1,698
unique mutant peptides
Transcripts
19
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
Mutations16,0421,49813,971
Samples1,8443021,485
Peptides1,6982851,486

Function

NRXN1 · Neurexin 1

This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016].

Isoforms & Proteins

19 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
ENST00000401669 Q9ULB1-5 2,081 1,267
ENST00000404971 Q9ULB1-3 1,987 1,310
ENST00000625672 Q9ULB1-2 1,898 1,256
ENST00000406316 Q9ULB1 1,868 1,234
ENST00000630543 A0A1D5RMU6* 1,841 1,217
ENST00000405472 A0A0R4J2G7* 1,839 1,215
ENST00000628515 A0A0D9SFF4* 658 389
ENST00000401710 P58400 552 372
ENST00000628364 A0A0D9SEM5* 550 371
ENST00000342183 P58400-1 520 358
ENST00000405581 E7EQN4* 493 273
ENST00000626899 A0A0D9SEQ7* 493 273
ENST00000637511 A0A1B0GVF4* 492 272
ENST00000378262 H7BYC7* 164 112
ENST00000636345 A0A1B0GTL0* 164 112
ENST00000412315 H0Y568* 162 111
ENST00000625891 A0A0U1RQP8* 158 112
ENST00000630656 A0A0D9SFY6* 93 63
ENST00000635519 A0A0U1RR00* 29 19

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2p16.3
Entrez ID
9378
Aliases
Hs.22998PTHSL2SCZD17

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 NRXN1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in NRXN1 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 16,042 mutations in NRXN1

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