ATG16L1

Autophagy related 16 like 1 Q676U5 A16L1_HUMAN
Protein Coding Chr 2 2q37.1 Swiss-Prot reviewed Entrez 55054
Mutations
1,149
CL 101 · Tissue 1,041
Samples
266
CL 43 · Tissue 220
Peptides
231
unique mutant peptides
Transcripts
6
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
Mutations1,1491011,041
Samples26643220
Peptides23129204

Function

ATG16L1 · Autophagy related 16 like 1

The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010].

Isoforms & Proteins

6 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
ENST00000392017 Q676U5 278 193
ENST00000392018 E7EVC7* 259 187
ENST00000392020 Q676U5-2 246 177
ENST00000347464 Q676U5-5 186 130
ENST00000373525 Q676U5-4 179 126
ENST00000625501 Q676U5 1 1

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q37.1
Entrez ID
Aliases
APG16LATG16AATG16LIBD10WDR30

Recurrent Mutations

All 193 amino-acid changes on canonical ENST00000392017 · 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 ATG16L1 · 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 ATG16L1 – 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
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Endometrial Carcinoma
1/42 2%
19/612 3%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Glioblastoma
2/98 2%
0/0 0%
Colorectal Carcinoma
8/143 6%
38/3239 1%
Non-Small Cell Lung Carcinoma
8/304 3%
11/1390 1%
Thyroid Gland Carcinoma
2/45 4%
15/1592 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Melanoma
0/210 0%
21/1899 1%
Other Solid Cancers
2/94 2%
13/1515 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Meningioma
1/3 33%
1/252 0%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Bladder Carcinoma
0/58 0%
7/956 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Squamous Cell Lung Carcinoma
0/57 0%
5/810 1%
Neuroendocrine Tumour
2/154 1%
2/577 0%
Gastric Carcinoma
1/74 1%
9/1809 0%
Esophageal Carcinoma
2/23 9%
2/769 0%
Mesothelioma
1/62 2%
0/165 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Other Sarcomas
2/69 3%
1/699 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
10/2550 0%
Ovarian Carcinoma
2/109 2%
2/998 0%
Head and Neck Carcinoma
0/85 0%
6/1574 0%
Breast Carcinoma
4/144 3%
8/3264 0%
Hepatocellular Carcinoma
0/46 0%
8/2210 0%
Prostate Carcinoma
1/13 8%
6/2105 0%

Mutation Distribution

Where ATG16L1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ATG16L1 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 1,149 mutations in ATG16L1

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