ALKBH8

AlkB homolog 8, tRNA methyltransferase Q96BT7 ALKB8_HUMAN
Protein Coding Chr 11 11q22.3 Swiss-Prot reviewed Entrez 91801
Mutations
558
CL 100 · Tissue 452
Samples
232
CL 52 · Tissue 177
Peptides
195
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
Mutations558100452
Samples23252177
Peptides19536156

Function

ALKBH8 · AlkB homolog 8, tRNA methyltransferase

Enables tRNA (uracil) methyltransferase activity; tRNA binding activity; and zinc ion binding activity. Involved in cellular response to DNA damage stimulus; tRNA methylation; and tRNA wobble uridine modification. Located in cytosol and nuclear body. Implicated in autosomal recessive non-syndromic intellectual disability. [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
ENST00000428149 Q96BT7 248 180
ENST00000389568 Q96BT7 216 169
ENST00000429370 Q96BT7-3 72 57
ENST00000417449 Q96BT7 22 11

Gene Properties

Type
Protein Coding
Chromosome
11
Cytoband
11q22.3
Entrez ID
Aliases
ABH8MRT71TRM9TRMT9TRMT9A

Recurrent Mutations

All 180 amino-acid changes on canonical ENST00000428149 · 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 ALKBH8 · 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 ALKBH8 – 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
1/40 2%
0/0 0%
Endometrial Carcinoma
4/42 10%
10/612 2%
Glioblastoma
2/98 2%
0/0 0%
Cervical Carcinoma
4/35 11%
5/422 1%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Melanoma
1/210 0%
29/1899 2%
Squamous Cell Lung Carcinoma
4/57 7%
5/810 1%
Non-Small Cell Lung Carcinoma
11/304 4%
6/1390 0%
Colorectal Carcinoma
12/143 8%
18/3239 1%
Non-Cancerous
1/104 1%
7/830 1%
Gastric Carcinoma
2/74 3%
12/1809 1%
Bladder Carcinoma
0/58 0%
6/956 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Other Solid Cancers
0/94 0%
8/1515 1%
Pancreatic Carcinoma
1/89 1%
7/1611 0%
Ovarian Carcinoma
2/109 2%
3/998 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
9/2550 0%
Neuroendocrine Tumour
0/154 0%
3/577 1%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Glioma
0/52 0%
8/2127 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%
Kidney Carcinoma
0/85 0%
6/1862 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Breast Carcinoma
0/144 0%
7/3264 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
4/2534 0%
B-Lymphoblastic Leukemia
3/55 5%
2/2640 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Prostate Carcinoma
1/13 8%
1/2105 0%

Mutation Distribution

Where ALKBH8 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ALKBH8 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 558 mutations in ALKBH8

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