ABHD17A

Abhydrolase domain containing 17A, depalmitoylase Q96GS6 AB17A_HUMAN
Protein Coding Chr 19 19p13.3 Swiss-Prot reviewed Entrez 81926
Mutations
569
CL 87 · Tissue 471
Samples
222
CL 29 · Tissue 188
Peptides
156
unique mutant peptides
Transcripts
4
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
Mutations56987471
Samples22229188
Peptides15639120

Function

ABHD17A · Abhydrolase domain containing 17A, depalmitoylase

Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation and protein localization to membrane. Located in endosome membrane; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

4 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
ENST00000250974 Q96GS6-2 211 110
ENST00000292577 Q96GS6 188 99
ENST00000590661 K7EQ25* 166 80
ENST00000676686 Q96GS6 4 4

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.3
Entrez ID
Aliases
C19orf27FAM108A1

Recurrent Mutations

All 110 amino-acid changes on canonical ENST00000250974 · 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 ABHD17A · 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 ABHD17A – 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
4/40 10%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
7/133 5%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Endometrial Carcinoma
2/42 5%
12/612 2%
Burkitts Lymphoma
0/32 0%
3/196 2%
Cervical Carcinoma
0/35 0%
6/422 1%
Glioblastoma
1/98 1%
0/0 0%
Non-Small Cell Lung Carcinoma
5/304 2%
12/1390 1%
Bladder Carcinoma
1/58 2%
9/956 1%
Ovarian Carcinoma
1/109 1%
10/998 1%
Colorectal Carcinoma
3/143 2%
25/3239 1%
Melanoma
0/210 0%
17/1899 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Gastric Carcinoma
0/74 0%
10/1809 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Osteosarcoma
1/45 2%
0/166 0%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Meningioma
0/3 0%
1/252 0%
Other Blood Cancers
0/61 0%
11/2725 0%
Other Sarcomas
1/69 1%
2/699 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
9/2550 0%
Prostate Carcinoma
0/13 0%
5/2105 0%
Squamous Cell Lung Carcinoma
1/57 2%
1/810 0%
Medulloblastoma
0/0 0%
1/450 0%
Hepatocellular Carcinoma
0/46 0%
5/2210 0%
Wilms Tumour
0/5 0%
1/474 0%

Mutation Distribution

Where ABHD17A is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ABHD17A 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 569 mutations in ABHD17A

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