FSD1

Fibronectin type III and SPRY domain containing 1 Q9BTV5 FSD1_HUMAN
Protein Coding Chr 19 19p13.3 Swiss-Prot reviewed Entrez 79187
Mutations
580
CL 121 · Tissue 454
Samples
307
CL 78 · Tissue 225
Peptides
246
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
Mutations580121454
Samples30778225
Peptides24661196

Function

FSD1 · Fibronectin type III and SPRY domain containing 1

This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009].

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
ENST00000221856 Q9BTV5 319 227
ENST00000597590 M0R366* 261 194

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.3
Entrez ID
Aliases
GLFNDMIR1

Recurrent Mutations

All 227 amino-acid changes on canonical ENST00000221856 · 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 FSD1 · 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 FSD1 – 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%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Endometrial Carcinoma
1/42 2%
15/612 2%
Melanoma
7/210 3%
36/1899 2%
Non-Small Cell Lung Carcinoma
8/304 3%
16/1390 1%
Gastric Carcinoma
7/74 9%
15/1809 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Cervical Carcinoma
2/35 6%
3/422 1%
Colorectal Carcinoma
6/143 4%
30/3239 1%
Glioblastoma
1/98 1%
0/0 0%
Neuroendocrine Tumour
6/154 4%
1/577 0%
Squamous Cell Lung Carcinoma
2/57 4%
6/810 1%
Other Solid Cancers
1/94 1%
10/1515 1%
Thyroid Gland Carcinoma
1/45 2%
10/1592 1%
Bladder Carcinoma
0/58 0%
6/956 1%
Glioma
0/52 0%
12/2127 1%
Head and Neck Carcinoma
0/85 0%
9/1574 1%
Ovarian Carcinoma
3/109 3%
3/998 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Esophageal Carcinoma
1/23 4%
3/769 0%
Biliary Tract Carcinoma
3/54 6%
2/950 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
10/2550 0%
Hepatocellular Carcinoma
1/46 2%
9/2210 0%
Mesothelioma
1/62 2%
0/165 0%
Medulloblastoma
0/0 0%
2/450 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Non-Cancerous
3/104 3%
1/830 0%
Pancreatic Carcinoma
3/89 3%
4/1611 0%
Meningioma
1/3 33%
0/252 0%

Mutation Distribution

Where FSD1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FSD1 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 580 mutations in FSD1

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