NIPAL4

NIPA like domain containing 4 Q0D2K0 NIPA4_HUMAN
Protein Coding Chr 5 5q33.3 Swiss-Prot reviewed Entrez 348938
Mutations
77
CL 30 · Tissue 44
Samples
60
CL 28 · Tissue 30
Peptides
57
unique mutant peptides
Transcripts
2
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
Mutations773044
Samples602830
Peptides572827

Function

NIPAL4 · NIPA like domain containing 4

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010].

Isoforms & Proteins

2 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
ENST00000311946 Q0D2K0 48 42
ENST00000435489 Q0D2K0-2 29 26

Gene Properties

Type
Protein Coding
Chromosome
5
Cytoband
5q33.3
Entrez ID
Aliases
ARCI6ICHTHYINICHYNNIPA4SLC57A6

Recurrent Mutations

All 42 amino-acid changes on canonical ENST00000311946 · 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 NIPAL4 · 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 NIPAL4 – 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
1/40 2%
0/0 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Endometrial Carcinoma
1/42 2%
3/612 0%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Non-Small Cell Lung Carcinoma
3/304 1%
3/1390 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Melanoma
1/210 0%
5/1899 0%
Colorectal Carcinoma
8/143 6%
1/3239 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Other Solid Cancers
1/94 1%
3/1515 0%
Squamous Cell Lung Carcinoma
1/57 2%
1/810 0%
Cervical Carcinoma
1/35 3%
0/422 0%
Gastric Carcinoma
1/74 1%
3/1809 0%
Bladder Carcinoma
1/58 2%
1/956 0%
Breast Carcinoma
1/144 1%
4/3264 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
1/2550 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Hepatocellular Carcinoma
0/46 0%
2/2210 0%
Pancreatic Carcinoma
1/89 1%
0/1611 0%
Glioma
0/52 0%
1/2127 0%
Prostate Carcinoma
1/13 8%
0/2105 0%
Kidney Carcinoma
0/85 0%
1/1862 0%

Mutation Distribution

Where NIPAL4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in NIPAL4 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 77 mutations in NIPAL4

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