Protein Coding Chr 16 16p13.3 Swiss-Prot reviewed Entrez 8312
Mutations
961
CL 128 · Tissue 814
Samples
486
CL 85 · Tissue 392
Peptides
397
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
Mutations961128814
Samples48685392
Peptides39769330

Function

AXIN1 · Axin 1

This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].

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
ENST00000262320 O15169 517 388
ENST00000354866 O15169-2 444 344

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16p13.3
Entrez ID
Aliases
AXINCMDOHPPP1R49

Recurrent Mutations

All 388 amino-acid changes on canonical ENST00000262320 · 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 AXIN1 · 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 AXIN1 – 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
6/40 15%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Endometrial Carcinoma
4/42 10%
21/612 3%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Glioblastoma
3/98 3%
0/0 0%
Melanoma
10/210 5%
47/1899 2%
Burkitts Lymphoma
2/32 6%
3/196 2%
Colorectal Carcinoma
18/143 13%
53/3239 2%
Gastric Carcinoma
1/74 1%
33/1809 2%
Adrenocortical Carcinoma
0/3 0%
2/112 2%
Other Sarcomas
3/69 4%
10/699 1%
Other Solid Cancers
2/94 2%
25/1515 2%
Non-Small Cell Lung Carcinoma
7/304 2%
17/1390 1%
Hepatocellular Carcinoma
1/46 2%
27/2210 1%
Head and Neck Carcinoma
1/85 1%
18/1574 1%
Small Cell Lung Carcinoma
0/9 0%
8/752 1%
Thyroid Gland Carcinoma
2/45 4%
15/1592 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Pancreatic Carcinoma
0/89 0%
14/1611 1%
Squamous Cell Lung Carcinoma
0/57 0%
7/810 1%
Bladder Carcinoma
0/58 0%
8/956 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Biliary Tract Carcinoma
0/54 0%
7/950 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Non-Cancerous
2/104 2%
4/830 0%
Ovarian Carcinoma
2/109 2%
5/998 0%
Breast Carcinoma
3/144 2%
17/3264 1%
Neuroendocrine Tumour
3/154 2%
1/577 0%
Glioma
0/52 0%
12/2127 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%

Mutation Distribution

Where AXIN1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in AXIN1 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 961 mutations in AXIN1

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