CNEP1R1

CTD nuclear envelope phosphatase 1 regulatory subunit 1 Q8N9A8 NEPR1_HUMAN
Protein Coding Chr 16 16q12.1 Swiss-Prot reviewed Entrez 255919
Mutations
139
CL 22 · Tissue 112
Samples
49
CL 12 · Tissue 35
Peptides
43
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
Mutations13922112
Samples491235
Peptides43933

Function

CNEP1R1 · CTD nuclear envelope phosphatase 1 regulatory subunit 1

This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].

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
ENST00000458059 Q8N9A8-2 44 33
ENST00000427478 Q8N9A8 42 28
ENST00000562576 H3BN40* 27 19
ENST00000565556 H3BUT5* 26 20

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16q12.1
Entrez ID
Aliases
C16orf69NEP1-R1NEP1R1TMEM188TMP125

Recurrent Mutations

All 28 amino-acid changes on canonical ENST00000427478 · 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 CNEP1R1 · 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 CNEP1R1 – 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-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Glioblastoma
2/98 2%
0/0 0%
Germ Cell Tumour
1/25 4%
0/169 0%
Endometrial Carcinoma
0/42 0%
3/612 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Bladder Carcinoma
3/58 5%
0/956 0%
Colorectal Carcinoma
5/143 4%
5/3239 0%
Melanoma
0/210 0%
6/1899 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Non-Small Cell Lung Carcinoma
0/304 0%
2/1390 0%
Other Solid Cancers
0/94 0%
2/1515 0%
Gastric Carcinoma
0/74 0%
2/1809 0%
Breast Carcinoma
0/144 0%
3/3264 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Hepatocellular Carcinoma
0/46 0%
2/2210 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
2/2550 0%
Kidney Carcinoma
0/85 0%
1/1862 0%

Mutation Distribution

Where CNEP1R1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CNEP1R1 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 139 mutations in CNEP1R1

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