IFT81

Intraflagellar transport 81 Q8WYA0 IFT81_HUMAN
Protein Coding Chr 12 12q24.11 Swiss-Prot reviewed Entrez 28981
Mutations
698
CL 92 · Tissue 591
Samples
271
CL 52 · Tissue 213
Peptides
215
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
Mutations69892591
Samples27152213
Peptides21532182

Function

IFT81 · Intraflagellar transport 81

The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016].

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
ENST00000242591 Q8WYA0 292 211
ENST00000552912 Q8WYA0 256 198
ENST00000361948 Q8WYA0-3 150 116

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q24.11
Entrez ID
Aliases
CDV-1CDV-1RCDV1CDV1RDV1SRTD19

Recurrent Mutations

All 211 amino-acid changes on canonical ENST00000242591 · 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 IFT81 · 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 IFT81 – 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
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Endometrial Carcinoma
6/42 14%
17/612 3%
Bladder Carcinoma
0/58 0%
16/956 2%
Burkitts Lymphoma
3/32 9%
0/196 0%
Colorectal Carcinoma
9/143 6%
32/3239 1%
Squamous Cell Lung Carcinoma
0/57 0%
10/810 1%
Melanoma
1/210 0%
23/1899 1%
Glioblastoma
1/98 1%
0/0 0%
Gastric Carcinoma
2/74 3%
16/1809 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Other Solid Cancers
4/94 4%
8/1515 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
17/2550 1%
Other Sarcomas
4/69 6%
1/699 0%
Ovarian Carcinoma
3/109 3%
4/998 0%
Non-Small Cell Lung Carcinoma
3/304 1%
7/1390 0%
Head and Neck Carcinoma
0/85 0%
9/1574 1%
Thyroid Gland Carcinoma
0/45 0%
8/1592 0%
Osteosarcoma
1/45 2%
0/166 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Glioma
3/52 6%
5/2127 0%
Hepatocellular Carcinoma
0/46 0%
8/2210 0%
Breast Carcinoma
0/144 0%
11/3264 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Kidney Carcinoma
1/85 1%
4/1862 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Prostate Carcinoma
0/13 0%
5/2105 0%

Mutation Distribution

Where IFT81 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in IFT81 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 698 mutations in IFT81

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