WDHD1

WD repeat and HMG-box DNA binding protein 1 O75717 WDHD1_HUMAN
Protein Coding Chr 14 14q22.2-q22.3 Swiss-Prot reviewed Entrez 11169
Mutations
752
CL 122 · Tissue 610
Samples
374
CL 76 · Tissue 290
Peptides
325
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
Mutations752122610
Samples37476290
Peptides32554271

Function

WDHD1 · WD repeat and HMG-box DNA binding protein 1

The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].

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
ENST00000360586 O75717 409 319
ENST00000420358 O75717-2 343 277

Gene Properties

Type
Protein Coding
Chromosome
14
Cytoband
14q22.2-q22.3
Entrez ID
Aliases
AND-1AND1CHTF4CTF4

Recurrent Mutations

All 319 amino-acid changes on canonical ENST00000360586 · 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 WDHD1 · 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 WDHD1 – 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
Endometrial Carcinoma
6/42 14%
24/612 4%
Melanoma
6/210 3%
30/1899 2%
Non-Small Cell Lung Carcinoma
16/304 5%
10/1390 1%
Other Solid Cancers
4/94 4%
20/1515 1%
Squamous Cell Lung Carcinoma
1/57 2%
10/810 1%
Colorectal Carcinoma
6/143 4%
35/3239 1%
Gastric Carcinoma
0/74 0%
21/1809 1%
Bladder Carcinoma
0/58 0%
11/956 1%
Hepatocellular Carcinoma
4/46 9%
20/2210 1%
Other Sarcomas
2/69 3%
6/699 1%
Neuroendocrine Tumour
4/154 3%
3/577 1%
Burkitts Lymphoma
0/32 0%
2/196 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Thyroid Gland Carcinoma
0/45 0%
13/1592 1%
Esophageal Carcinoma
1/23 4%
5/769 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Non-Cancerous
2/104 2%
5/830 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Glioma
0/52 0%
15/2127 1%
Head and Neck Carcinoma
2/85 2%
9/1574 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
15/2550 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Mesothelioma
1/62 2%
0/165 0%
Ovarian Carcinoma
1/109 1%
3/998 0%
Pancreatic Carcinoma
2/89 2%
4/1611 0%
B-Cell Non-Hodgkins Lymphoma
7/88 8%
1/2534 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Breast Carcinoma
1/144 1%
9/3264 0%
Kidney Carcinoma
2/85 2%
3/1862 0%

Mutation Distribution

Where WDHD1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in WDHD1 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 752 mutations in WDHD1

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