FAM173A

Adenine nucleotide translocase lysine N-methyltransferase Q9BQD7 ANKMT_HUMAN
Swiss-Prot reviewed
Mutations
185
CL 6 · Tissue 177
Samples
76
CL 3 · Tissue 72
Peptides
64
unique mutant peptides
Transcripts
3
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
Mutations1856177
Samples76372
Peptides64362

Function

FAM173A · Adenine nucleotide translocase lysine N-methyltransferase

Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration (PubMed:31213526). Probably also trimethylates ANT1/SLC25A4 (PubMed:31213526)

Isoforms & Proteins

3 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
ENST00000569529 Q9BQD7 73 53
ENST00000219535 J3KMW5* 69 50
ENST00000564000 H3BPE8* 43 30

Gene Properties

Recurrent Mutations

All 53 amino-acid changes on canonical ENST00000569529 · 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 FAM173A · 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 FAM173A – 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
Hodgkins Lymphoma
0/16 0%
1/122 1%
Endometrial Carcinoma
0/42 0%
4/612 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Thyroid Gland Carcinoma
0/45 0%
8/1592 0%
Cervical Carcinoma
1/35 3%
1/422 0%
Gastric Carcinoma
0/74 0%
7/1809 0%
Colorectal Carcinoma
0/143 0%
12/3239 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Other Solid Cancers
0/94 0%
4/1515 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Head and Neck Carcinoma
0/85 0%
4/1574 0%
Squamous Cell Lung Carcinoma
0/57 0%
2/810 0%
Non-Cancerous
0/104 0%
2/830 0%
Breast Carcinoma
0/144 0%
6/3264 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Pancreatic Carcinoma
1/89 1%
2/1611 0%
Melanoma
0/210 0%
3/1899 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
3/2550 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Glioma
0/52 0%
2/2127 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
2/2534 0%
Prostate Carcinoma
0/13 0%
1/2105 0%
B-Lymphoblastic Leukemia
1/55 2%
0/2640 0%

Mutation Distribution

Where FAM173A is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAM173A 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 185 mutations in FAM173A

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