ASAH1 N-acylsphingosine amidohydrolase 1 Q13510 ASAH1_HUMAN
Protein Coding Chr 8 8p22 Swiss-Prot reviewed Entrez 427
Mutations
2,759
CL 242 · Tissue 2,490
Samples
224
CL 34 · Tissue 188
Peptides
258
unique mutant peptides
Transcripts
19
isoforms mutated

Stats by Source

Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Global = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

GlobalCell lineTissue
Mutations2,7592422,490
Samples22434188
Peptides25848219

Function

ASAH1 · N-acylsphingosine amidohydrolase 1

This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015].

Isoforms & Proteins

19 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
ENST00000637790 Q13510 198 137
ENST00000381733 Q13510-2 190 132
ENST00000637991 A0A1B0GTZ5* 182 126
ENST00000637636 A0A1B0GUH5* 180 126
ENST00000314146 Q13510-3 179 121
ENST00000636171 A0A1B0GTM3* 174 122
ENST00000636577 A0A1B0GUA4* 174 122
ENST00000637528 A0A1B0GW68* 173 121
ENST00000520781 E7EMM4* 172 120
ENST00000636691 A0A1B0GUE3* 163 112
ENST00000637922 A0A1B0GUE3* 163 112
ENST00000636455 A0A1B0GVG2* 158 109
ENST00000636997 A0A1B0GUG1* 153 113
ENST00000636128 A0A1B0GTP7* 140 91
ENST00000636537 A0A1B0GU06* 86 52
ENST00000637638 A0A1B0GW48* 80 48
ENST00000637561 A0A1B0GVJ1* 76 46
ENST00000636269 A0A1B0GVA3* 59 32
ENST00000637872 A0A1B0GVA3* 59 32

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8p22
Entrez ID
427
Aliases
ACACDaseASAHPHPPHP32SMAPME

Recurrent Mutations

Top recurrent amino-acid changes along the protein · needle height = number of mutations

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 Distribution

Where ASAH1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ASAH1 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 2,759 mutations in ASAH1

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 CDSTypeSourcePeptide