Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 1,906 | 260 | 1,611 |
| Samples | 439 | 89 | 344 |
| Peptides | 411 | 65 | 354 |
Function
ASPH · Aspartate beta-hydroxylase
This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009].
Isoforms & Proteins
15 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000379454 | Q12797 | 389 | 292 |
| ENST00000541428 | Q12797-10 | 341 | 275 |
| ENST00000519234 | E5RG56* | 135 | 106 |
| ENST00000356457 | Q12797-2 | 130 | 102 |
| ENST00000517847 | Q12797-8 | 130 | 104 |
| ENST00000517903 | Q12797-5 | 129 | 103 |
| ENST00000445642 | Q12797-11 | 124 | 97 |
| ENST00000518068 | Q12797-6 | 101 | 79 |
| ENST00000522835 | Q12797-9 | 101 | 81 |
| ENST00000389204 | Q12797-3 | 69 | 63 |
| ENST00000522603 | Q12797-4 | 63 | 58 |
| ENST00000379449 | Q12797-7 | 59 | 50 |
| ENST00000517661 | G3XAN5* | 53 | 47 |
| ENST00000522919 | E5RJL3* | 53 | 43 |
| ENST00000517856 | E5RHJ2* | 29 | 23 |
Gene Properties
Recurrent Mutations
All 292 amino-acid changes on canonical ENST00000379454 · needle height = samples · drag the mini-map to zoom
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 ASPH · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ASPH – 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 type | Cell lines | Tissue samples |
|---|---|---|
| Glioblastoma | 8/98 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 22/612 4% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Retinoblastoma | 1/27 4% | 0/30 0% |
| Cervical Carcinoma | 0/35 0% | 8/422 2% |
| Plasma Cell Myeloma | 2/44 5% | 4/305 1% |
| Colorectal Carcinoma | 7/143 5% | 47/3239 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 12/752 2% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 13/810 2% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Neuroendocrine Tumour | 5/154 3% | 5/577 1% |
| Non-Small Cell Lung Carcinoma | 12/304 4% | 11/1390 1% |
| Melanoma | 1/210 0% | 27/1899 1% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Other Solid Cancers | 1/94 1% | 20/1515 1% |
| Head and Neck Carcinoma | 3/85 4% | 18/1574 1% |
| Thyroid Gland Carcinoma | 3/45 7% | 17/1592 1% |
| Hepatocellular Carcinoma | 3/46 7% | 24/2210 1% |
| Gastric Carcinoma | 2/74 3% | 17/1809 1% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Bladder Carcinoma | 3/58 5% | 6/956 1% |
| Ovarian Carcinoma | 6/109 6% | 3/998 0% |
| Meningioma | 0/3 0% | 2/252 1% |
| Other Sarcomas | 0/69 0% | 6/699 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 18/2550 1% |
Mutation Distribution
Where ASPH is mutated · all tissues, split by cell line vs tissue
How many mutations in ASPH 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
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 1,906 mutations in ASPH
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|