CABLES1

Cdk5 and Abl enzyme substrate 1 Q8TDN4 CABL1_HUMAN
Protein Coding Chr 18 18q11.2 Swiss-Prot reviewed Entrez 91768
Mutations
480
CL 88 · Tissue 390
Samples
217
CL 58 · Tissue 157
Peptides
182
unique mutant peptides
Transcripts
3
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
Mutations48088390
Samples21758157
Peptides18240146

Function

CABLES1 · Cdk5 and Abl enzyme substrate 1

This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].

Isoforms & Proteins

3 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
ENST00000256925 Q8TDN4 220 163
ENST00000420687 Q8TDN4-2 146 115
ENST00000400473 Q8TDN4-4 114 92

Gene Properties

Type
Protein Coding
Chromosome
18
Cytoband
18q11.2
Entrez ID
Aliases
CABL1CABLESHsT2563IK3-1

Recurrent Mutations

All 163 amino-acid changes on canonical ENST00000256925 · 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 CABLES1 · 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 CABLES1 – 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
4/40 10%
0/0 0%
Glioblastoma
5/98 5%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Endometrial Carcinoma
2/42 5%
15/612 2%
Hodgkins Lymphoma
2/16 12%
1/122 1%
Neuroendocrine Tumour
5/154 3%
3/577 1%
Melanoma
1/210 0%
22/1899 1%
Colorectal Carcinoma
9/143 6%
26/3239 1%
Rhabdomyosarcoma
2/33 6%
0/171 0%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Germ Cell Tumour
1/25 4%
0/169 0%
Biliary Tract Carcinoma
1/54 2%
4/950 0%
Thyroid Gland Carcinoma
0/45 0%
8/1592 0%
Osteosarcoma
1/45 2%
0/166 0%
Non-Small Cell Lung Carcinoma
4/304 1%
4/1390 0%
Ovarian Carcinoma
3/109 3%
2/998 0%
Other Solid Cancers
1/94 1%
6/1515 0%
Medulloblastoma
0/0 0%
2/450 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Gastric Carcinoma
2/74 3%
6/1809 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%
Meningioma
1/3 33%
0/252 0%
Kidney Carcinoma
1/85 1%
6/1862 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
8/2550 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Breast Carcinoma
0/144 0%
10/3264 0%
Glioma
0/52 0%
6/2127 0%
B-Cell Non-Hodgkins Lymphoma
4/88 5%
2/2534 0%

Mutation Distribution

Where CABLES1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CABLES1 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 480 mutations in CABLES1

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