DSN1

DSN1 component of MIS12 kinetochore complex Q9H410 DSN1_HUMAN
Protein Coding Chr 20 20q11.23 Swiss-Prot reviewed Entrez 79980
Mutations
643
CL 91 · Tissue 545
Samples
152
CL 31 · Tissue 119
Peptides
142
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
Mutations64391545
Samples15231119
Peptides14220122

Function

DSN1 · DSN1 component of MIS12 kinetochore complex

This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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
ENST00000373750 Q9H410 160 127
ENST00000426836 Q9H410 144 119
ENST00000448110 Q9H410-4 142 117
ENST00000373740 Q5JW54* 107 86
ENST00000373734 Q9H410-3 90 71

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20q11.23
Entrez ID
Aliases
C20orf172KNL3MIS13dJ469A13.2hKNL-3

Recurrent Mutations

All 127 amino-acid changes on canonical ENST00000373750 · 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 DSN1 · 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 DSN1 – 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
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Endometrial Carcinoma
2/42 5%
9/612 1%
Cervical Carcinoma
2/35 6%
3/422 1%
Melanoma
4/210 2%
18/1899 1%
Non-Small Cell Lung Carcinoma
8/304 3%
5/1390 0%
Bladder Carcinoma
0/58 0%
6/956 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Other Sarcomas
1/69 1%
3/699 0%
Colorectal Carcinoma
1/143 1%
16/3239 0%
Osteosarcoma
0/45 0%
1/166 1%
Ovarian Carcinoma
0/109 0%
5/998 0%
Prostate Carcinoma
0/13 0%
8/2105 0%
Squamous Cell Lung Carcinoma
2/57 4%
1/810 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Neuroendocrine Tumour
0/154 0%
2/577 0%
Head and Neck Carcinoma
0/85 0%
4/1574 0%
Pancreatic Carcinoma
2/89 2%
2/1611 0%
Breast Carcinoma
4/144 3%
4/3264 0%
Gastric Carcinoma
0/74 0%
4/1809 0%
Kidney Carcinoma
1/85 1%
3/1862 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Glioma
0/52 0%
3/2127 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
2/2550 0%
Neuroblastoma
1/87 1%
0/1331 0%
Other Blood Cancers
0/61 0%
1/2725 0%
B-Lymphoblastic Leukemia
1/55 2%
0/2640 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
0/2534 0%

Mutation Distribution

Where DSN1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DSN1 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 643 mutations in DSN1

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