IFT74

Intraflagellar transport 74 Q96LB3 IFT74_HUMAN
Protein Coding Chr 9 9p21.2 Swiss-Prot reviewed Entrez 80173
Mutations
694
CL 80 · Tissue 606
Samples
200
CL 34 · Tissue 163
Peptides
162
unique mutant peptides
Transcripts
4
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
Mutations69480606
Samples20034163
Peptides16224135

Function

IFT74 · Intraflagellar transport 74

This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017].

Isoforms & Proteins

4 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
ENST00000380062 Q96LB3 207 154
ENST00000433700 Q96LB3 184 141
ENST00000443698 Q96LB3 184 141
ENST00000429045 Q96LB3-2 119 90

Gene Properties

Type
Protein Coding
Chromosome
9
Cytoband
9p21.2
Entrez ID
Aliases
BBS22CCDC2CMG-1CMG1JBTS40SPGF58

Recurrent Mutations

All 154 amino-acid changes on canonical ENST00000380062 · 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 IFT74 · 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 IFT74 – 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
2/40 5%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Endometrial Carcinoma
3/42 7%
10/612 2%
Germ Cell Tumour
2/25 8%
1/169 1%
Squamous Cell Lung Carcinoma
2/57 4%
7/810 1%
Melanoma
0/210 0%
21/1899 1%
Colorectal Carcinoma
4/143 3%
26/3239 1%
Non-Small Cell Lung Carcinoma
5/304 2%
8/1390 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Thyroid Gland Carcinoma
0/45 0%
10/1592 1%
Bladder Carcinoma
2/58 3%
4/956 0%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Neuroendocrine Tumour
4/154 3%
0/577 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Other Solid Cancers
0/94 0%
8/1515 1%
Cervical Carcinoma
0/35 0%
2/422 0%
Gastric Carcinoma
0/74 0%
8/1809 0%
Hepatocellular Carcinoma
1/46 2%
8/2210 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Non-Cancerous
0/104 0%
3/830 0%
Glioma
0/52 0%
7/2127 0%
Other Sarcomas
1/69 1%
1/699 0%
Head and Neck Carcinoma
1/85 1%
3/1574 0%
Breast Carcinoma
1/144 1%
6/3264 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Other Blood Cancers
1/61 2%
4/2725 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
4/2534 0%
Neuroblastoma
1/87 1%
1/1331 0%

Mutation Distribution

Where IFT74 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in IFT74 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 694 mutations in IFT74

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