ASPM

Assembly factor for spindle microtubules Q8IZT6 ASPM_HUMAN
Protein Coding Chr 1 1q31.3 Swiss-Prot reviewed Entrez 259266
Mutations
3,026
CL 514 · Tissue 2,457
Samples
1,659
CL 341 · Tissue 1,294
Peptides
1,530
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
Mutations3,0265142,457
Samples1,6593411,294
Peptides1,5302591,275

Function

ASPM · Assembly factor for spindle microtubules

This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011].

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
ENST00000367409 Q8IZT6 2,088 1,526
ENST00000294732 Q8IZT6-2 938 727

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1q31.3
Entrez ID
Aliases
ASPCalmbp1MCPH5

Recurrent Mutations

All 1526 amino-acid changes on canonical ENST00000367409 · 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 ASPM · 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 ASPM – 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
5/40 12%
0/0 0%
Endometrial Carcinoma
12/42 29%
65/612 11%
Oral Cavity Carcinoma
6/54 11%
0/0 0%
Non-Small Cell Lung Carcinoma
52/304 17%
125/1390 9%
Acute Myeloid Leukemia
9/90 10%
0/0 0%
Squamous Cell Lung Carcinoma
19/57 33%
51/810 6%
Melanoma
16/210 8%
136/1899 7%
Colorectal Carcinoma
30/143 21%
181/3239 6%
Small Cell Lung Carcinoma
0/9 0%
42/752 6%
Other Solid Cancers
8/94 9%
69/1515 5%
Gastric Carcinoma
8/74 11%
82/1809 5%
Bladder Carcinoma
5/58 9%
42/956 4%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Burkitts Lymphoma
2/32 6%
8/196 4%
Cervical Carcinoma
1/35 3%
18/422 4%
Neuroendocrine Tumour
18/154 12%
11/577 2%
Esophageal Squamous Cell Carcinoma
8/51 16%
88/2550 3%
Esophageal Carcinoma
1/23 4%
22/769 3%
Hodgkins Lymphoma
2/16 12%
2/122 2%
Other Sarcomas
11/69 16%
11/699 2%
Non-Cancerous
6/104 6%
20/830 2%
Head and Neck Carcinoma
3/85 4%
43/1574 3%
Plasma Cell Myeloma
6/44 14%
3/305 1%
Germ Cell Tumour
2/25 8%
3/169 2%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Ovarian Carcinoma
12/109 11%
16/998 2%
Breast Carcinoma
26/144 18%
57/3264 2%
Biliary Tract Carcinoma
3/54 6%
20/950 2%
Glioblastoma
2/98 2%
0/0 0%
Rhabdomyosarcoma
2/33 6%
2/171 1%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in ASPM 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 3,026 mutations in ASPM

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