Swiss-Prot reviewed
Mutations
139
CL 25 · Tissue 114
Samples
59
CL 9 · Tissue 50
Peptides
50
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
Mutations13925114
Samples59950
Peptides50748

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
ENST00000429260 Q5BN46 57 38
ENST00000371789 Q5BN46-2 41 26
ENST00000371791 Q5BN46-2 41 26

Recurrent Mutations

All 38 amino-acid changes on canonical ENST00000429260 · 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 C9orf116 · 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 C9orf116 – 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
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Glioblastoma
1/98 1%
0/0 0%
Endometrial Carcinoma
1/42 2%
4/612 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Ovarian Carcinoma
1/109 1%
5/998 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
7/2550 0%
Melanoma
0/210 0%
5/1899 0%
Non-Small Cell Lung Carcinoma
3/304 1%
1/1390 0%
Glioma
0/52 0%
5/2127 0%
Gastric Carcinoma
0/74 0%
4/1809 0%
Thyroid Gland Carcinoma
0/45 0%
3/1592 0%
Hepatocellular Carcinoma
0/46 0%
3/2210 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%
Bladder Carcinoma
0/58 0%
1/956 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
1/2534 0%
Neuroblastoma
0/87 0%
1/1331 0%
Breast Carcinoma
0/144 0%
2/3264 0%
Pancreatic Carcinoma
0/89 0%
1/1611 0%
Colorectal Carcinoma
0/143 0%
2/3239 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%

Mutation Distribution

Where C9orf116 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in C9orf116 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.

Mutations

All 139 mutations in C9orf116

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