NPAS3

Neuronal PAS domain protein 3 Q8IXF0 NPAS3_HUMAN
Protein Coding Chr 14 14q13.1 Swiss-Prot reviewed Entrez 64067
Mutations
3,431
CL 376 · Tissue 2,979
Samples
691
CL 130 · Tissue 547
Peptides
594
unique mutant peptides
Transcripts
8
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
Mutations3,4313762,979
Samples691130547
Peptides59495503

Function

NPAS3 · Neuronal PAS domain protein 3

This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].

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
ENST00000356141 Q8IXF0 749 516
ENST00000357798 Q8IXF0-3 652 472
ENST00000551492 F8VR32* 646 475
ENST00000346562 Q8IXF0-4 635 462
ENST00000548645 Q8IXF0-2 635 462
ENST00000547068 Q8IXF0-5 106 68
ENST00000551008 F8W0C2* 6 3
ENST00000551634 F8VS42* 2 2

Gene Properties

Type
Protein Coding
Chromosome
14
Cytoband
14q13.1
Entrez ID
Aliases
MOP6PASD6bHLHe12

Recurrent Mutations

All 516 amino-acid changes on canonical ENST00000356141 · 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 NPAS3 · 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 NPAS3 – 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
Glioblastoma
7/98 7%
0/0 0%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Non-Small Cell Lung Carcinoma
18/304 6%
47/1390 3%
Endometrial Carcinoma
4/42 10%
21/612 3%
Melanoma
5/210 2%
74/1899 4%
Small Cell Lung Carcinoma
4/9 44%
24/752 3%
Hodgkins Lymphoma
2/16 12%
2/122 2%
Colorectal Carcinoma
22/143 15%
72/3239 2%
Gastric Carcinoma
3/74 4%
46/1809 3%
Unknown
1/10 10%
0/29 0%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Other Solid Cancers
5/94 5%
34/1515 2%
Squamous Cell Lung Carcinoma
1/57 2%
17/810 2%
Rhabdomyosarcoma
1/33 3%
3/171 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
44/2550 2%
Germ Cell Tumour
3/25 12%
0/169 0%
Other Sarcomas
4/69 6%
7/699 1%
Head and Neck Carcinoma
4/85 5%
18/1574 1%
Burkitts Lymphoma
2/32 6%
1/196 1%
Ewings Sarcoma
4/63 6%
0/262 0%
Hepatocellular Carcinoma
0/46 0%
27/2210 1%
Plasma Cell Myeloma
2/44 5%
2/305 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Neuroendocrine Tumour
2/154 1%
6/577 1%
Ovarian Carcinoma
4/109 4%
8/998 1%
Bladder Carcinoma
3/58 5%
6/956 1%
Esophageal Carcinoma
0/23 0%
7/769 1%
Non-Cancerous
0/104 0%
8/830 1%
Thyroid Gland Carcinoma
0/45 0%
14/1592 1%

Mutation Distribution

Where NPAS3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in NPAS3 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 53 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 3,431 mutations in NPAS3

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