CFAP221

Cilia and flagella associated protein 221 Q4G0U5 PCDP1_HUMAN
Protein Coding Chr 2 2q14.2 Swiss-Prot reviewed Entrez 200373
Mutations
479
CL 92 · Tissue 381
Samples
414
CL 89 · Tissue 319
Peptides
317
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
Mutations47992381
Samples41489319
Peptides31756265

Function

CFAP221 · Cilia and flagella associated protein 221

Predicted to enable calmodulin binding activity. Predicted to be involved in cilium assembly. Predicted to act upstream of or within cerebrospinal fluid circulation; motile cilium assembly; and mucociliary clearance. Predicted to be located in axoneme; extracellular region; and sperm flagellum. [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
ENST00000413369 Q4G0U5 437 314
ENST00000598644 Q4G0U5-4 42 30

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q14.2
Entrez ID
Aliases
CILD55FAP221PCDP1

Recurrent Mutations

All 314 amino-acid changes on canonical ENST00000413369 · 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 CFAP221 · 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 CFAP221 – 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
13/210 6%
82/1899 4%
Endometrial Carcinoma
1/42 2%
25/612 4%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Hodgkins Lymphoma
3/16 19%
0/122 0%
Other Solid Cancers
4/94 4%
23/1515 2%
Rhabdomyosarcoma
3/33 9%
0/171 0%
Non-Small Cell Lung Carcinoma
11/304 4%
13/1390 1%
Colorectal Carcinoma
13/143 9%
33/3239 1%
Bladder Carcinoma
1/58 2%
12/956 1%
Squamous Cell Lung Carcinoma
0/57 0%
11/810 1%
Non-Cancerous
4/104 4%
7/830 1%
Cervical Carcinoma
0/35 0%
5/422 1%
Germ Cell Tumour
1/25 4%
1/169 1%
Glioblastoma
1/98 1%
0/0 0%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Other Sarcomas
2/69 3%
4/699 1%
Head and Neck Carcinoma
0/85 0%
12/1574 1%
Hepatocellular Carcinoma
3/46 7%
13/2210 1%
Gastric Carcinoma
3/74 4%
9/1809 0%
Esophageal Carcinoma
0/23 0%
5/769 1%
Esophageal Squamous Cell Carcinoma
1/51 2%
15/2550 1%
Glioma
0/52 0%
12/2127 1%
Pancreatic Carcinoma
2/89 2%
7/1611 0%
Biliary Tract Carcinoma
2/54 4%
3/950 0%
Neuroblastoma
4/87 5%
3/1331 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Thyroid Gland Carcinoma
3/45 7%
4/1592 0%
Breast Carcinoma
2/144 1%
12/3264 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%

Mutation Distribution

Where CFAP221 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CFAP221 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 53 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 479 mutations in CFAP221

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