ABHD12B

Abhydrolase domain containing 12B Q7Z5M8 AB12B_HUMAN
Protein Coding Chr 14 14q22.1 Swiss-Prot reviewed Entrez 145447
Mutations
296
CL 52 · Tissue 236
Samples
168
CL 37 · Tissue 125
Peptides
127
unique mutant peptides
Transcripts
2
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
Mutations29652236
Samples16837125
Peptides1273096

Function

ABHD12B · Abhydrolase domain containing 12B

Predicted to enable acylglycerol lipase activity; lysophospholipase activity; and palmitoyl-(protein) hydrolase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

2 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
ENST00000337334 Q7Z5M8 174 121
ENST00000353130 Q7Z5M8-2 122 88

Gene Properties

Type
Protein Coding
Chromosome
14
Cytoband
14q22.1
Entrez ID
Aliases
BEM46L3C14orf29c14_5314

Recurrent Mutations

All 121 amino-acid changes on canonical ENST00000337334 · 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 ABHD12B · 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 ABHD12B – 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
Endometrial Carcinoma
6/42 14%
8/612 1%
Glioblastoma
2/98 2%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Rhabdomyosarcoma
2/33 6%
0/171 0%
Melanoma
2/210 1%
18/1899 1%
Colorectal Carcinoma
10/143 7%
21/3239 1%
Mesothelioma
2/62 3%
0/165 0%
Cervical Carcinoma
0/35 0%
3/422 1%
Gastric Carcinoma
1/74 1%
11/1809 1%
Other Solid Cancers
1/94 1%
9/1515 1%
Non-Small Cell Lung Carcinoma
4/304 1%
5/1390 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Bladder Carcinoma
0/58 0%
5/956 1%
Hepatocellular Carcinoma
0/46 0%
10/2210 0%
Ovarian Carcinoma
1/109 1%
3/998 0%
Non-Cancerous
0/104 0%
3/830 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Glioma
0/52 0%
5/2127 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Head and Neck Carcinoma
1/85 1%
2/1574 0%
Breast Carcinoma
2/144 1%
3/3264 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
4/2550 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
3/2534 0%
B-Lymphoblastic Leukemia
0/55 0%
3/2640 0%

Mutation Distribution

Where ABHD12B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ABHD12B 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 53 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 296 mutations in ABHD12B

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