Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 3,689 | 528 | 3,141 |
| Samples | 595 | 135 | 453 |
| Peptides | 732 | 125 | 636 |
Function
IFT122 · Intraflagellar transport 122
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013].
Isoforms & Proteins
9 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000348417 | Q9HBG6 | 712 | 477 |
| ENST00000296266 | Q9HBG6-5 | 632 | 454 |
| ENST00000507564 | Q9HBG6-6 | 617 | 440 |
| ENST00000349441 | Q9HBG6-4 | 616 | 415 |
| ENST00000347300 | Q9HBG6-3 | 602 | 431 |
| ENST00000693233 | Q9HBG6-7 | 400 | 281 |
| ENST00000689005 | Q9HBG6-10 | 65 | 47 |
| ENST00000504021 | A0A8J9A3C6* | 43 | 37 |
| ENST00000431818 | A0A8C8L0T3* | 2 | 2 |
Gene Properties
Recurrent Mutations
All 477 amino-acid changes on canonical ENST00000348417 · needle height = samples · drag the mini-map to zoom
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 IFT122 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in IFT122 – 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 type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 7/40 18% | 0/0 0% |
| Chordoma | 1/7 14% | 0/13 0% |
| Endometrial Carcinoma | 3/42 7% | 26/612 4% |
| Hodgkins Lymphoma | 5/16 31% | 1/122 1% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Melanoma | 14/210 7% | 54/1899 3% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 22/1390 2% |
| Cervical Carcinoma | 4/35 11% | 8/422 2% |
| Germ Cell Tumour | 2/25 8% | 3/169 2% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 17/810 2% |
| Gastric Carcinoma | 1/74 1% | 43/1809 2% |
| Colorectal Carcinoma | 14/143 10% | 59/3239 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 12/752 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Bladder Carcinoma | 1/58 2% | 14/956 1% |
| Other Solid Cancers | 0/94 0% | 21/1515 1% |
| Hepatocellular Carcinoma | 4/46 9% | 23/2210 1% |
| Other Sarcomas | 2/69 3% | 7/699 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 16/1592 1% |
| Ovarian Carcinoma | 6/109 6% | 4/998 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 20/2550 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Neuroendocrine Tumour | 5/154 3% | 1/577 0% |
| Glioma | 1/52 2% | 16/2127 1% |
| Breast Carcinoma | 7/144 5% | 19/3264 1% |
| Head and Neck Carcinoma | 1/85 1% | 10/1574 1% |
Mutation Distribution
Where IFT122 is mutated · all tissues, split by cell line vs tissue
How many mutations in IFT122 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
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 3,689 mutations in IFT122
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|