WDR54

WD repeat domain 54 Q9H977 WDR54_HUMAN
Protein Coding Chr 2 2p13.1 Swiss-Prot reviewed Entrez 84058
Mutations
261
CL 76 · Tissue 178
Samples
162
CL 55 · Tissue 102
Peptides
132
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
Mutations26176178
Samples16255102
Peptides13233100

Function

WDR54 · WD repeat domain 54

Enables protein homodimerization activity. Involved in negative regulation of receptor internalization; regulation of MAPK cascade; and regulation of epidermal growth factor receptor signaling pathway. Located in vesicle. [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
ENST00000348227 Q9H977 163 120
ENST00000409791 Q9H977-3 98 78

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2p13.1
Entrez ID

Recurrent Mutations

All 120 amino-acid changes on canonical ENST00000348227 · 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 WDR54 · 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 WDR54 – 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
4/40 10%
0/0 0%
Endometrial Carcinoma
7/42 17%
9/612 1%
Hodgkins Lymphoma
2/16 12%
1/122 1%
Burkitts Lymphoma
2/32 6%
1/196 1%
Colorectal Carcinoma
13/143 9%
19/3239 1%
Melanoma
1/210 0%
14/1899 1%
Ewings Sarcoma
2/63 3%
0/262 0%
Gastric Carcinoma
2/74 3%
9/1809 0%
Plasma Cell Myeloma
0/44 0%
2/305 1%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Non-Small Cell Lung Carcinoma
4/304 1%
4/1390 0%
Ovarian Carcinoma
2/109 2%
3/998 0%
Mesothelioma
1/62 2%
0/165 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Thyroid Gland Carcinoma
1/45 2%
6/1592 0%
Neuroendocrine Tumour
1/154 1%
2/577 0%
Meningioma
1/3 33%
0/252 0%
Other Sarcomas
2/69 3%
1/699 0%
Head and Neck Carcinoma
3/85 4%
3/1574 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Biliary Tract Carcinoma
2/54 4%
1/950 0%
Hepatocellular Carcinoma
2/46 4%
4/2210 0%
Squamous Cell Lung Carcinoma
0/57 0%
2/810 0%
Breast Carcinoma
0/144 0%
8/3264 0%
Bladder Carcinoma
0/58 0%
2/956 0%
Glioma
0/52 0%
3/2127 0%
Non-Cancerous
1/104 1%
0/830 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Prostate Carcinoma
0/13 0%
2/2105 0%
Neuroblastoma
0/87 0%
1/1331 0%

Mutation Distribution

Where WDR54 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in WDR54 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 261 mutations in WDR54

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