SURF1

SURF1 cytochrome c oxidase assembly factor Q15526 SURF1_HUMAN
Protein Coding Chr 9 9q34.2 Swiss-Prot reviewed Entrez 6834
Mutations
188
CL 40 · Tissue 145
Samples
115
CL 32 · Tissue 81
Peptides
90
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
Mutations18840145
Samples1153281
Peptides902269

Function

SURF1 · SURF1 cytochrome c oxidase assembly factor

This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008].

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
ENST00000371974 Q15526 117 86
ENST00000615505 A0A087WYS9* 70 53
ENST00000626663 Q15526 1 1

Gene Properties

Type
Protein Coding
Chromosome
9
Cytoband
9q34.2
Entrez ID
Aliases
CMT4KMC4DN1SHY1

Recurrent Mutations

All 86 amino-acid changes on canonical ENST00000371974 · 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 SURF1 · 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 SURF1 – 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
3/40 8%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Chondrosarcoma
1/14 7%
0/75 0%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Melanoma
2/210 1%
13/1899 1%
Endometrial Carcinoma
0/42 0%
3/612 0%
Ovarian Carcinoma
4/109 4%
1/998 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Gastric Carcinoma
1/74 1%
7/1809 0%
Neuroendocrine Tumour
0/154 0%
3/577 1%
Biliary Tract Carcinoma
1/54 2%
3/950 0%
Colorectal Carcinoma
7/143 5%
6/3239 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Squamous Cell Lung Carcinoma
2/57 4%
1/810 0%
Non-Cancerous
1/104 1%
2/830 0%
Bladder Carcinoma
1/58 2%
2/956 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Non-Small Cell Lung Carcinoma
0/304 0%
4/1390 0%
Cervical Carcinoma
0/35 0%
1/422 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
3/2534 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Glioma
0/52 0%
4/2127 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Other Blood Cancers
1/61 2%
3/2725 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Breast Carcinoma
2/144 1%
2/3264 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Kidney Carcinoma
1/85 1%
1/1862 0%
Prostate Carcinoma
1/13 8%
1/2105 0%
Other Solid Cancers
0/94 0%
1/1515 0%

Mutation Distribution

Where SURF1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SURF1 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 188 mutations in SURF1

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