ALDH16A1

Aldehyde dehydrogenase 16 family member A1 Q8IZ83 A16A1_HUMAN
Protein Coding Chr 19 19q13.33 Swiss-Prot reviewed Entrez 126133
Mutations
1,160
CL 195 · Tissue 954
Samples
428
CL 99 · Tissue 324
Peptides
312
unique mutant peptides
Transcripts
3
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
Mutations1,160195954
Samples42899324
Peptides31275248

Function

ALDH16A1 · Aldehyde dehydrogenase 16 family member A1

This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010].

Isoforms & Proteins

3 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
ENST00000293350 Q8IZ83 457 296
ENST00000455361 Q8IZ83-3 368 249
ENST00000540132 F5H4B6* 335 227

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19q13.33
Entrez ID

Recurrent Mutations

All 296 amino-acid changes on canonical ENST00000293350 · 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 ALDH16A1 · 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 ALDH16A1 – 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
7/40 18%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Burkitts Lymphoma
0/32 0%
7/196 4%
Endometrial Carcinoma
4/42 10%
16/612 3%
Melanoma
7/210 3%
36/1899 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Colorectal Carcinoma
13/143 9%
46/3239 1%
Non-Small Cell Lung Carcinoma
13/304 4%
16/1390 1%
Bladder Carcinoma
2/58 3%
15/956 2%
Thyroid Gland Carcinoma
2/45 4%
25/1592 2%
Gastric Carcinoma
2/74 3%
27/1809 1%
Neuroendocrine Tumour
9/154 6%
2/577 0%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Non-Cancerous
6/104 6%
6/830 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Small Cell Lung Carcinoma
2/9 22%
6/752 1%
Glioblastoma
1/98 1%
0/0 0%
Other Solid Cancers
2/94 2%
13/1515 1%
Mesothelioma
2/62 3%
0/165 0%
Squamous Cell Lung Carcinoma
1/57 2%
6/810 1%
Biliary Tract Carcinoma
1/54 2%
7/950 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Head and Neck Carcinoma
1/85 1%
9/1574 1%
Neuroblastoma
2/87 2%
6/1331 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
11/2550 0%
Ovarian Carcinoma
2/109 2%
4/998 0%
Glioma
2/52 4%
9/2127 0%
Osteosarcoma
1/45 2%
0/166 0%

Mutation Distribution

Where ALDH16A1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ALDH16A1 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 1,160 mutations in ALDH16A1

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