CPT1B

Carnitine palmitoyltransferase 1B Q92523 CPT1B_HUMAN
Protein Coding Chr 22 22q13.33 Swiss-Prot reviewed Entrez 1375
Mutations
1,816
CL 232 · Tissue 1,568
Samples
365
CL 69 · Tissue 290
Peptides
276
unique mutant peptides
Transcripts
5
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
Mutations1,8162321,568
Samples36569290
Peptides27651227

Function

CPT1B · Carnitine palmitoyltransferase 1B

The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009].

Isoforms & Proteins

5 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
ENST00000312108 Q92523 399 269
ENST00000405237 Q92523 357 255
ENST00000360719 Q92523 356 254
ENST00000395650 Q92523 356 254
ENST00000457250 Q92523-3 348 247

Gene Properties

Type
Protein Coding
Chromosome
22
Cytoband
22q13.33
Entrez ID
Aliases
CPT1-MCPT1MCPTICPTI-MM-CPT1MCCPT1

Recurrent Mutations

All 268 amino-acid changes on canonical ENST00000312108 · 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 CPT1B · 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 CPT1B – 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%
Rhabdomyosarcoma
2/33 6%
9/171 5%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Endometrial Carcinoma
2/42 5%
15/612 2%
Gastric Carcinoma
2/74 3%
31/1809 2%
Melanoma
5/210 2%
30/1899 2%
Colorectal Carcinoma
6/143 4%
48/3239 1%
Ovarian Carcinoma
8/109 7%
9/998 1%
Cervical Carcinoma
1/35 3%
5/422 1%
Non-Small Cell Lung Carcinoma
6/304 2%
14/1390 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Burkitts Lymphoma
2/32 6%
0/196 0%
Hepatocellular Carcinoma
0/46 0%
16/2210 1%
Neuroendocrine Tumour
4/154 3%
1/577 0%
Other Sarcomas
2/69 3%
3/699 0%
Non-Cancerous
2/104 2%
4/830 0%
Other Solid Cancers
0/94 0%
10/1515 1%
Breast Carcinoma
12/144 8%
8/3264 0%
Bladder Carcinoma
0/58 0%
6/956 1%
Squamous Cell Lung Carcinoma
0/57 0%
5/810 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
14/2550 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Head and Neck Carcinoma
0/85 0%
8/1574 1%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Meningioma
0/3 0%
1/252 0%
Glioma
0/52 0%
8/2127 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
6/2534 0%
Prostate Carcinoma
0/13 0%
7/2105 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%

Mutation Distribution

Where CPT1B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CPT1B 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 1,816 mutations in CPT1B

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