WDR72

WD repeat domain 72 Q3MJ13 WDR72_HUMAN
Protein Coding Chr 15 15q21.3 Swiss-Prot reviewed Entrez 256764
Mutations
3,106
CL 452 · Tissue 2,642
Samples
737
CL 160 · Tissue 572
Peptides
588
unique mutant peptides
Transcripts
5
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
Mutations3,1064522,642
Samples737160572
Peptides588103492

Function

WDR72 · WD repeat domain 72

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013].

Isoforms & Proteins

5 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
ENST00000360509 Q3MJ13 829 545
ENST00000396328 Q3MJ13 746 525
ENST00000559418 H0YKE0* 744 524
ENST00000557913 H0YLX4* 743 523
ENST00000614174 - 44 28

Gene Properties

Type
Protein Coding
Chromosome
15
Cytoband
15q21.3
Entrez ID
Aliases
AI2A3

Recurrent Mutations

All 545 amino-acid changes on canonical ENST00000360509 · 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 WDR72 · 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 WDR72 – 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
6/25 24%
0/0 0%
T-Lymphoblastic Leukemia
9/40 22%
0/0 0%
Melanoma
12/210 6%
113/1899 6%
Glioblastoma
5/98 5%
0/0 0%
Endometrial Carcinoma
6/42 14%
23/612 4%
Other Solid Cancers
6/94 6%
65/1515 4%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Squamous Cell Lung Carcinoma
1/57 2%
30/810 4%
Germ Cell Tumour
3/25 12%
3/169 2%
Non-Small Cell Lung Carcinoma
18/304 6%
34/1390 2%
Unknown
1/10 10%
0/29 0%
Neuroendocrine Tumour
13/154 8%
4/577 1%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Colorectal Carcinoma
21/143 15%
53/3239 2%
Hodgkins Lymphoma
2/16 12%
1/122 1%
Bladder Carcinoma
2/58 3%
16/956 2%
Esophageal Squamous Cell Carcinoma
8/51 16%
37/2550 1%
Small Cell Lung Carcinoma
1/9 11%
12/752 2%
Gastric Carcinoma
4/74 5%
27/1809 1%
Plasma Cell Myeloma
3/44 7%
2/305 1%
Other Sarcomas
3/69 4%
8/699 1%
Head and Neck Carcinoma
4/85 5%
17/1574 1%
Chondrosarcoma
1/14 7%
0/75 0%
Cervical Carcinoma
0/35 0%
5/422 1%
Esophageal Carcinoma
0/23 0%
8/769 1%
Biliary Tract Carcinoma
1/54 2%
9/950 1%
Breast Carcinoma
5/144 3%
21/3264 1%
Non-Cancerous
0/104 0%
7/830 1%
Glioma
1/52 2%
14/2127 1%
Ewings Sarcoma
0/63 0%
2/262 1%

Mutation Distribution

Where WDR72 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in WDR72 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 47 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 3,106 mutations in WDR72

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