WDR17

WD repeat domain 17 Q8IZU2 WDR17_HUMAN
Protein Coding Chr 4 4q34.2 Swiss-Prot reviewed Entrez 116966
Mutations
2,876
CL 431 · Tissue 2,377
Samples
919
CL 193 · Tissue 703
Peptides
786
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
Mutations2,8764312,377
Samples919193703
Peptides786134667

Function

WDR17 · WD repeat domain 17

This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009].

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
ENST00000508596 Q8IZU2-2 1,029 730
ENST00000280190 Q8IZU2 929 714
ENST00000507824 E7ESC9* 918 705

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q34.2
Entrez ID

Recurrent Mutations

All 729 amino-acid changes on canonical ENST00000508596 · 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 WDR17 · 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 WDR17 – 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
Oral Cavity Carcinoma
4/54 7%
0/0 0%
Squamous Cell Lung Carcinoma
2/57 4%
55/810 7%
Endometrial Carcinoma
6/42 14%
34/612 6%
Gastrointestinal Stromal Tumour
0/0 0%
7/133 5%
Non-Small Cell Lung Carcinoma
34/304 11%
42/1390 3%
Acute Myeloid Leukemia
4/90 4%
0/0 0%
Melanoma
13/210 6%
75/1899 4%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Neuroendocrine Tumour
19/154 12%
9/577 2%
Colorectal Carcinoma
25/143 17%
98/3239 3%
Cervical Carcinoma
4/35 11%
11/422 3%
Glioblastoma
3/98 3%
0/0 0%
Bladder Carcinoma
3/58 5%
25/956 3%
Other Solid Cancers
2/94 2%
41/1515 3%
Germ Cell Tumour
2/25 8%
3/169 2%
Gastric Carcinoma
5/74 7%
43/1809 2%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Head and Neck Carcinoma
4/85 5%
31/1574 2%
Esophageal Carcinoma
2/23 9%
14/769 2%
Small Cell Lung Carcinoma
0/9 0%
15/752 2%
Biliary Tract Carcinoma
1/54 2%
16/950 2%
Non-Cancerous
1/104 1%
13/830 2%
Esophageal Squamous Cell Carcinoma
6/51 12%
33/2550 1%
Hepatocellular Carcinoma
0/46 0%
30/2210 1%
Breast Carcinoma
13/144 9%
30/3264 1%
Other Sarcomas
5/69 7%
4/699 1%
Osteosarcoma
2/45 4%
0/166 0%
Ovarian Carcinoma
6/109 6%
4/998 0%
Burkitts Lymphoma
2/32 6%
0/196 0%
Mesothelioma
2/62 3%
0/165 0%

Mutation Distribution

Where WDR17 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in WDR17 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 2,876 mutations in WDR17

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