NFKB1

Nuclear factor kappa B subunit 1 P19838 NFKB1_HUMAN
Protein Coding Chr 4 4q24 Swiss-Prot reviewed Entrez 4790
Mutations
1,208
CL 143 · Tissue 1,050
Samples
385
CL 64 · Tissue 314
Peptides
335
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
Mutations1,2081431,050
Samples38564314
Peptides33548291

Function

NFKB1 · Nuclear factor kappa B subunit 1

This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020].

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
ENST00000226574 P19838-2 438 316
ENST00000394820 P19838 394 304
ENST00000505458 P19838 375 290
ENST00000507079 D6RH30* 1 1

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q24
Entrez ID
Aliases
CVID12EBP-1KBF1NF-kBNF-kB1NF-kappa-B1

Recurrent Mutations

All 316 amino-acid changes on canonical ENST00000226574 · 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 NFKB1 · 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 NFKB1 – 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
5/40 12%
0/0 0%
Endometrial Carcinoma
10/42 24%
22/612 4%
Acute Myeloid Leukemia
4/90 4%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Glioblastoma
2/98 2%
0/0 0%
Melanoma
2/210 1%
35/1899 2%
Colorectal Carcinoma
15/143 10%
44/3239 1%
Squamous Cell Lung Carcinoma
0/57 0%
10/810 1%
Gastric Carcinoma
3/74 4%
18/1809 1%
Other Solid Cancers
0/94 0%
18/1515 1%
Small Cell Lung Carcinoma
0/9 0%
8/752 1%
Thyroid Gland Carcinoma
0/45 0%
17/1592 1%
Non-Small Cell Lung Carcinoma
3/304 1%
13/1390 1%
Other Sarcomas
1/69 1%
6/699 1%
Hepatocellular Carcinoma
0/46 0%
20/2210 1%
Cervical Carcinoma
1/35 3%
3/422 1%
Ovarian Carcinoma
4/109 4%
5/998 0%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Biliary Tract Carcinoma
0/54 0%
7/950 1%
Prostate Carcinoma
0/13 0%
13/2105 1%
Glioma
0/52 0%
12/2127 1%
Neuroendocrine Tumour
2/154 1%
2/577 0%
Germ Cell Tumour
1/25 4%
0/169 0%
Head and Neck Carcinoma
0/85 0%
8/1574 1%
Osteosarcoma
0/45 0%
1/166 1%
Burkitts Lymphoma
0/32 0%
1/196 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Breast Carcinoma
6/144 4%
8/3264 0%
Bladder Carcinoma
1/58 2%
3/956 0%
Meningioma
0/3 0%
1/252 0%

Mutation Distribution

Where NFKB1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in NFKB1 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 1,208 mutations in NFKB1

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