KDM5D

Lysine demethylase 5D Q9BY66 KDM5D_HUMAN
Protein Coding Chr Y Yq11.223 Swiss-Prot reviewed Entrez 8284
Mutations
622
CL 108 · Tissue 511
Samples
215
CL 48 · Tissue 164
Peptides
189
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
Mutations622108511
Samples21548164
Peptides18927160

Function

KDM5D · Lysine demethylase 5D

This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 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
ENST00000317961 Q9BY66 228 180
ENST00000541639 Q9BY66-3 203 164
ENST00000382806 Q9BY66-2 191 153

Gene Properties

Type
Protein Coding
Chromosome
Y
Cytoband
Yq11.223
Entrez ID
Aliases
HYHYAJARID1DSMCY

Recurrent Mutations

All 180 amino-acid changes on canonical ENST00000317961 · 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 KDM5D · 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 KDM5D – 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
3/54 6%
0/0 0%
Glioblastoma
4/98 4%
0/0 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Non-Small Cell Lung Carcinoma
3/304 1%
21/1390 2%
Melanoma
10/210 5%
19/1899 1%
Burkitts Lymphoma
0/32 0%
3/196 2%
Squamous Cell Lung Carcinoma
5/57 9%
5/810 1%
Chondrosarcoma
0/14 0%
1/75 1%
Colorectal Carcinoma
3/143 2%
25/3239 1%
Gastric Carcinoma
2/74 3%
13/1809 1%
Thyroid Gland Carcinoma
2/45 4%
9/1592 1%
Biliary Tract Carcinoma
0/54 0%
6/950 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Germ Cell Tumour
1/25 4%
0/169 0%
Other Solid Cancers
0/94 0%
8/1515 1%
Bladder Carcinoma
0/58 0%
5/956 1%
Osteosarcoma
1/45 2%
0/166 0%
Mesothelioma
1/62 2%
0/165 0%
Glioma
0/52 0%
9/2127 0%
Kidney Carcinoma
4/85 5%
4/1862 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Neuroblastoma
4/87 5%
0/1331 0%
Neuroendocrine Tumour
0/154 0%
2/577 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Non-Cancerous
1/104 1%
1/830 0%
Prostate Carcinoma
0/13 0%
4/2105 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
3/2550 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
3/2534 0%

Mutation Distribution

Where KDM5D is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KDM5D 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 622 mutations in KDM5D

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