N6AMT1

Methyltransferase HEMK2 Q9Y5N5 HEMK2_HUMAN
Swiss-Prot reviewed
Mutations
239
CL 51 · Tissue 174
Samples
133
CL 35 · Tissue 91
Peptides
108
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
Mutations23951174
Samples1333591
Peptides1081889

Function

N6AMT1 · Methyltransferase HEMK2

Methyltransferase that can methylate proteins and, to a lower extent, arsenic (PubMed:18539146, PubMed:21193388, PubMed:30017583, PubMed:31061526, PubMed:31636962). Catalytic subunit of a heterodimer with TRMT112, which monomethylates 'Lys-12' of histone H4 (H4K12me1), a modification present at the promoters of numerous genes encoding cell cycle regulators (PubMed:31061526). Catalytic subunit of a heterodimer with TRMT112, which catalyzes N5-methylation of Glu residue of proteins with a Gly-Gln-Xaa-Xaa-Xaa-Arg motif (PubMed:18539146, PubMed:31632689, PubMed:31636962). Methylates ETF1 on 'Gln-185'; ETF1 needs to be complexed to ERF3 in its GTP-bound form to be efficiently methylated (PubMed:18539146, PubMed:20606008, PubMed:31061526, PubMed:31636962). May also play a role in the modulation of arsenic-induced toxicity by mediating the conversion of monomethylarsonous acid (3+) into the less toxic dimethylarsonic acid (PubMed:21193388, PubMed:25997655). It however only plays a limited role in arsenic metabolism compared with AS3MT (PubMed:25997655)

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
ENST00000303775 Q9Y5N5 134 98
ENST00000351429 Q9Y5N5-2 105 83

Gene Properties

Recurrent Mutations

All 98 amino-acid changes on canonical ENST00000303775 · 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 N6AMT1 · 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 N6AMT1 – 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
2/42 5%
10/612 2%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Chondrosarcoma
1/14 7%
0/75 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Burkitts Lymphoma
1/32 3%
1/196 1%
Non-Small Cell Lung Carcinoma
6/304 2%
6/1390 0%
Colorectal Carcinoma
10/143 7%
12/3239 0%
Bladder Carcinoma
0/58 0%
6/956 1%
Squamous Cell Lung Carcinoma
3/57 5%
2/810 0%
Melanoma
1/210 0%
10/1899 1%
Other Solid Cancers
0/94 0%
8/1515 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Hepatocellular Carcinoma
1/46 2%
9/2210 0%
Neuroendocrine Tumour
0/154 0%
3/577 1%
Small Cell Lung Carcinoma
1/9 11%
2/752 0%
Ovarian Carcinoma
0/109 0%
4/998 0%
Gastric Carcinoma
1/74 1%
5/1809 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Breast Carcinoma
4/144 3%
3/3264 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
3/2534 0%
Kidney Carcinoma
1/85 1%
2/1862 0%
Neuroblastoma
0/87 0%
2/1331 0%
Other Sarcomas
0/69 0%
1/699 0%
Prostate Carcinoma
1/13 8%
1/2105 0%
Thyroid Gland Carcinoma
0/45 0%
1/1592 0%
Head and Neck Carcinoma
0/85 0%
1/1574 0%
Glioma
0/52 0%
1/2127 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%

Mutation Distribution

Where N6AMT1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in N6AMT1 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 239 mutations in N6AMT1

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