WDR53

WD repeat domain 53 Q7Z5U6 WDR53_HUMAN
Protein Coding Chr 3 3q29 Swiss-Prot reviewed Entrez 348793
Mutations
314
CL 59 · Tissue 248
Samples
168
CL 40 · Tissue 125
Peptides
134
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
Mutations31459248
Samples16840125
Peptides13428109

Function

WDR53 · WD repeat domain 53

This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008].

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
ENST00000332629 Q7Z5U6 178 131
ENST00000433160 C9JBE7* 69 59
ENST00000429115 C9JJZ8* 67 58

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3q29
Entrez ID

Recurrent Mutations

All 131 amino-acid changes on canonical ENST00000332629 · 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 WDR53 · 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 WDR53 – 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
2/40 5%
0/0 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Endometrial Carcinoma
2/42 5%
10/612 2%
Melanoma
1/210 0%
15/1899 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Non-Small Cell Lung Carcinoma
5/304 2%
7/1390 0%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Other Solid Cancers
1/94 1%
9/1515 1%
Colorectal Carcinoma
5/143 4%
15/3239 0%
Squamous Cell Lung Carcinoma
0/57 0%
5/810 1%
Neuroendocrine Tumour
4/154 3%
0/577 0%
Ovarian Carcinoma
2/109 2%
4/998 0%
Gastric Carcinoma
0/74 0%
10/1809 1%
Bladder Carcinoma
0/58 0%
5/956 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Head and Neck Carcinoma
0/85 0%
7/1574 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Other Sarcomas
3/69 4%
0/699 0%
Hepatocellular Carcinoma
1/46 2%
7/2210 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
4/2534 0%
Breast Carcinoma
3/144 2%
6/3264 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Biliary Tract Carcinoma
1/54 2%
1/950 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
Non-Cancerous
0/104 0%
1/830 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
Other Blood Cancers
1/61 2%
0/2725 0%

Mutation Distribution

Where WDR53 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in WDR53 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 314 mutations in WDR53

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