FAM210A

Mitochondrial inner membrane scaffold 1 Q96ND0 MIMS1_HUMAN
Swiss-Prot reviewed
Mutations
227
CL 48 · Tissue 174
Samples
120
CL 31 · Tissue 86
Peptides
94
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
Mutations22748174
Samples1203186
Peptides942275

Function

FAM210A · Mitochondrial inner membrane scaffold 1

Mitochondrial inner membrane protein essential for mitochondrial homeostasis, structural integrity, and cellular metabolism. Regulates mitochondrial translation by modulating protein synthesis of mitochondrial DNA-encoded genes. Plays a critical role in skeletal muscle mass and strength by regulating mitochondrial density, function, and protein synthesis. In brown adipose tissue, regulates mitochondrial cristae remodeling in response to cold stress by interacting with mitochondrial protease YME1L1 and enhancing its proteolytic activity, promoting OMA1 degradation and regulating OPA1 processing. Required for cardiac mitochondrial homeostasis and normal cardiomyocyte contractile function. In skeletal muscle, positively regulates myoblast differentiation by enhancing expression of myogenic factors

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
ENST00000402563 Q96ND0 105 89
ENST00000322247 Q96ND0 104 88
ENST00000651643 Q96ND0 18 16

Gene Properties

Recurrent Mutations

All 89 amino-acid changes on canonical ENST00000402563 · 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 FAM210A · 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 FAM210A – 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
2/40 5%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Endometrial Carcinoma
4/42 10%
8/612 1%
Chondrosarcoma
1/14 7%
0/75 0%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Gastric Carcinoma
1/74 1%
12/1809 1%
Non-Small Cell Lung Carcinoma
2/304 1%
8/1390 1%
Colorectal Carcinoma
8/143 6%
10/3239 0%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Other Sarcomas
1/69 1%
2/699 0%
Squamous Cell Lung Carcinoma
1/57 2%
2/810 0%
Melanoma
0/210 0%
7/1899 0%
Breast Carcinoma
3/144 2%
6/3264 0%
Head and Neck Carcinoma
1/85 1%
3/1574 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Non-Cancerous
0/104 0%
2/830 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Glioma
1/52 2%
2/2127 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Hepatocellular Carcinoma
0/46 0%
3/2210 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
1/2534 0%
Prostate Carcinoma
0/13 0%
1/2105 0%

Mutation Distribution

Where FAM210A is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAM210A 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 227 mutations in FAM210A

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