SMIM20

Small integral membrane protein 20 Q8N5G0 SIM20_HUMAN
Protein Coding Chr 4 4p15.2 Swiss-Prot reviewed Entrez 389203
Mutations
31
CL 6 · Tissue 22
Samples
21
CL 4 · Tissue 15
Peptides
19
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
Mutations31622
Samples21415
Peptides19415

Function

SMIM20 · Small integral membrane protein 20

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner 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
ENST00000506197 Q8N5G0 20 15
ENST00000514384 E5RH91* 11 9

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4p15.2
Entrez ID
Aliases
C4orf52MITRAC7PNX

Recurrent Mutations

All 16 amino-acid changes on canonical ENST00000506197 · 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 SMIM20 · 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 SMIM20 – 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
Burkitts Lymphoma
0/32 0%
1/196 1%
Cervical Carcinoma
0/35 0%
2/422 0%
Endometrial Carcinoma
0/42 0%
2/612 0%
Non-Small Cell Lung Carcinoma
0/304 0%
2/1390 0%
Head and Neck Carcinoma
0/85 0%
2/1574 0%
Non-Cancerous
0/104 0%
1/830 0%
Bladder Carcinoma
1/58 2%
0/956 0%
Colorectal Carcinoma
2/143 1%
0/3239 0%
Gastric Carcinoma
0/74 0%
1/1809 0%
Glioma
0/52 0%
1/2127 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
Melanoma
0/210 0%
1/1899 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%
Hepatocellular Carcinoma
0/46 0%
1/2210 0%
Breast Carcinoma
1/144 1%
0/3264 0%

Mutation Distribution

Where SMIM20 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SMIM20 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 31 mutations in SMIM20

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