C9orf24

Sperm microtubule inner protein 6 Q8NCR6 SMIP6_HUMAN
Swiss-Prot reviewed
Mutations
319
CL 23 · Tissue 296
Samples
117
CL 13 · Tissue 104
Peptides
114
unique mutant peptides
Transcripts
5
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
Mutations31923296
Samples11713104
Peptides11413103

Function

C9orf24 · Sperm microtubule inner protein 6

May participate in intramanchette transport and midpiece formation of the sperm tail. May play a potential role in somatic cell proliferation

Isoforms & Proteins

5 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
ENST00000297623 Q8NCR6 100 76
ENST00000379124 Q8NCR6-4 66 48
ENST00000379127 Q8NCR6-4 66 48
ENST00000379133 Q8NCR6-5 47 35
ENST00000379126 Q8NCR6-3 40 31

Gene Properties

Recurrent Mutations

All 76 amino-acid changes on canonical ENST00000297623 · 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 C9orf24 · 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 C9orf24 – 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
Melanoma
1/210 0%
22/1899 1%
Bladder Carcinoma
1/58 2%
9/956 1%
Endometrial Carcinoma
0/42 0%
6/612 1%
Colorectal Carcinoma
5/143 4%
13/3239 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Osteosarcoma
1/45 2%
0/166 0%
Non-Small Cell Lung Carcinoma
1/304 0%
6/1390 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Other Solid Cancers
0/94 0%
4/1515 0%
Squamous Cell Lung Carcinoma
0/57 0%
2/810 0%
Medulloblastoma
0/0 0%
1/450 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Hepatocellular Carcinoma
0/46 0%
5/2210 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
Neuroendocrine Tumour
0/154 0%
1/577 0%
Glioma
0/52 0%
3/2127 0%
Prostate Carcinoma
1/13 8%
2/2105 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Gastric Carcinoma
0/74 0%
2/1809 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Breast Carcinoma
0/144 0%
3/3264 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
2/2534 0%
Neuroblastoma
1/87 1%
0/1331 0%
B-Lymphoblastic Leukemia
2/55 4%
0/2640 0%
Pancreatic Carcinoma
0/89 0%
1/1611 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
Other Blood Cancers
0/61 0%
1/2725 0%

Mutation Distribution

Where C9orf24 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in C9orf24 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 319 mutations in C9orf24

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