HOXD3

Homeobox D3 P31249 HXD3_HUMAN
Protein Coding Chr 2 2q31.1 Swiss-Prot reviewed Entrez 3232
Mutations
635
CL 122 · Tissue 496
Samples
327
CL 87 · Tissue 235
Peptides
236
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
Mutations635122496
Samples32787235
Peptides23648191

Function

HOXD3 · Homeobox D3

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [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
ENST00000410016 P31249 286 219
ENST00000249440 P31249 285 218
ENST00000683222 P31249 64 43

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q31.1
Entrez ID
Aliases
HOX1DHOX4HOX4AHox-4.1

Recurrent Mutations

All 219 amino-acid changes on canonical ENST00000410016 · 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 HOXD3 · 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 HOXD3 – 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
5/40 12%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Chondrosarcoma
2/14 14%
0/75 0%
Endometrial Carcinoma
4/42 10%
10/612 2%
Non-Small Cell Lung Carcinoma
18/304 6%
15/1390 1%
Melanoma
9/210 4%
30/1899 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Gastric Carcinoma
6/74 8%
28/1809 2%
Other Solid Cancers
3/94 3%
26/1515 2%
Squamous Cell Lung Carcinoma
0/57 0%
14/810 2%
Colorectal Carcinoma
12/143 8%
42/3239 1%
Esophageal Carcinoma
2/23 9%
8/769 1%
Neuroendocrine Tumour
7/154 5%
1/577 0%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Head and Neck Carcinoma
1/85 1%
11/1574 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Bladder Carcinoma
2/58 3%
4/956 0%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Osteosarcoma
1/45 2%
0/166 0%
Ovarian Carcinoma
0/109 0%
5/998 0%
Non-Cancerous
0/104 0%
3/830 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
7/2550 0%
Other Sarcomas
1/69 1%
1/699 0%
Glioma
0/52 0%
5/2127 0%
Hepatocellular Carcinoma
2/46 4%
3/2210 0%
Prostate Carcinoma
2/13 15%
2/2105 0%
Breast Carcinoma
3/144 2%
2/3264 0%
B-Lymphoblastic Leukemia
2/55 4%
2/2640 0%

Mutation Distribution

Where HOXD3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in HOXD3 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 52 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 635 mutations in HOXD3

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