FXR1

FMR1 autosomal homolog 1 P51114 FXR1_HUMAN
Protein Coding Chr 3 3q26.33 Swiss-Prot reviewed Entrez 8087
Mutations
1,712
CL 196 · Tissue 1,490
Samples
335
CL 65 · Tissue 264
Peptides
284
unique mutant peptides
Transcripts
7
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
Mutations1,7121961,490
Samples33565264
Peptides28444246

Function

FXR1 · FMR1 autosomal homolog 1

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

7 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
ENST00000357559 P51114 350 247
ENST00000480918 B4DXZ6* 305 226
ENST00000305586 P51114-3 275 203
ENST00000445140 P51114-2 274 203
ENST00000491062 E9PFF5* 260 192
ENST00000468861 E7EU85* 237 171
ENST00000491674 C9JYQ6* 11 10

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3q26.33
Entrez ID
Aliases
CMYO9ACMYO9BCMYP9ACMYP9BFXR1PMYOPMIL

Recurrent Mutations

All 247 amino-acid changes on canonical ENST00000357559 · 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 FXR1 · 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 FXR1 – 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
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Endometrial Carcinoma
12/42 29%
24/612 4%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Gastric Carcinoma
4/74 5%
33/1809 2%
Colorectal Carcinoma
10/143 7%
55/3239 2%
Cervical Carcinoma
0/35 0%
7/422 2%
Squamous Cell Lung Carcinoma
1/57 2%
10/810 1%
Chondrosarcoma
0/14 0%
1/75 1%
Non-Small Cell Lung Carcinoma
5/304 2%
10/1390 1%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Non-Cancerous
0/104 0%
8/830 1%
Melanoma
1/210 0%
17/1899 1%
Head and Neck Carcinoma
2/85 2%
10/1574 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Bladder Carcinoma
2/58 3%
5/956 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
16/2550 1%
Neuroendocrine Tumour
2/154 1%
3/577 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Hepatocellular Carcinoma
2/46 4%
13/2210 1%
Ovarian Carcinoma
3/109 3%
4/998 0%
Thyroid Gland Carcinoma
0/45 0%
9/1592 1%
Osteosarcoma
1/45 2%
0/166 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Biliary Tract Carcinoma
0/54 0%
4/950 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Breast Carcinoma
4/144 3%
9/3264 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Other Sarcomas
0/69 0%
2/699 0%
Pancreatic Carcinoma
2/89 2%
2/1611 0%

Mutation Distribution

Where FXR1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FXR1 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 1,712 mutations in FXR1

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