KIAA1549

KIAA1549 Q9HCM3 K1549_HUMAN
Protein Coding Chr 7 7q34 Swiss-Prot reviewed Entrez 57670
Mutations
2,391
CL 408 · Tissue 1,958
Samples
1,068
CL 231 · Tissue 826
Peptides
857
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
Mutations2,3914081,958
Samples1,068231826
Peptides857161726

Function

KIAA1549 · KIAA1549

The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012].

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
ENST00000422774 Q9HCM3 1,264 842
ENST00000440172 Q9HCM3-2 1,127 800

Gene Properties

Type
Protein Coding
Chromosome
7
Cytoband
7q34
Entrez ID
Aliases
RP86

Recurrent Mutations

All 842 amino-acid changes on canonical ENST00000422774 · 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 KIAA1549 · 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 KIAA1549 – 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
6/40 15%
0/0 0%
Oral Cavity Carcinoma
5/54 9%
0/0 0%
Melanoma
32/210 15%
143/1899 8%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
2/26 8%
0/0 0%
Endometrial Carcinoma
8/42 19%
38/612 6%
Chordoma
0/7 0%
1/13 8%
Squamous Cell Lung Carcinoma
5/57 9%
32/810 4%
Non-Small Cell Lung Carcinoma
26/304 9%
45/1390 3%
Colorectal Carcinoma
36/143 25%
103/3239 3%
Glioblastoma
4/98 4%
0/0 0%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Gastric Carcinoma
6/74 8%
64/1809 4%
Other Solid Cancers
5/94 5%
51/1515 3%
Cervical Carcinoma
0/35 0%
13/422 3%
Neuroendocrine Tumour
12/154 8%
6/577 1%
Osteosarcoma
5/45 11%
0/166 0%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Other Sarcomas
2/69 3%
14/699 2%
Ewings Sarcoma
4/63 6%
2/262 1%
Non-Cancerous
2/104 2%
15/830 2%
Retinoblastoma
0/27 0%
1/30 3%
Hepatocellular Carcinoma
2/46 4%
37/2210 2%
Head and Neck Carcinoma
4/85 5%
24/1574 2%
Esophageal Carcinoma
1/23 4%
12/769 2%
Esophageal Squamous Cell Carcinoma
3/51 6%
36/2550 1%
Biliary Tract Carcinoma
3/54 6%
12/950 1%
Rhabdomyosarcoma
1/33 3%
2/171 1%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Small Cell Lung Carcinoma
0/9 0%
11/752 1%

Mutation Distribution

Where KIAA1549 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KIAA1549 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 2,391 mutations in KIAA1549

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