KLHDC4

Kelch domain containing 4 Q8TBB5 KLDC4_HUMAN
Protein Coding Chr 16 16q24.2 Swiss-Prot reviewed Entrez 54758
Mutations
1,061
CL 165 · Tissue 861
Samples
365
CL 79 · Tissue 274
Peptides
284
unique mutant peptides
Transcripts
6
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
Mutations1,061165861
Samples36579274
Peptides28450236

Isoforms & Proteins

6 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
ENST00000270583 Q8TBB5 324 211
ENST00000347925 Q8TBB5-3 283 189
ENST00000353170 Q8TBB5-2 265 176
ENST00000622456 Q9UF94* 162 112
ENST00000446344 F6Q9S6* 26 17
ENST00000567298 Q8TBB5 1 1

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16q24.2
Entrez ID

Recurrent Mutations

All 211 amino-acid changes on canonical ENST00000270583 · 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 KLHDC4 · 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 KLHDC4 – 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
2/26 8%
0/0 0%
Endometrial Carcinoma
5/42 12%
22/612 4%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Melanoma
5/210 2%
34/1899 2%
Gastric Carcinoma
3/74 4%
26/1809 1%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Other Solid Cancers
0/94 0%
24/1515 2%
Colorectal Carcinoma
7/143 5%
43/3239 1%
Non-Small Cell Lung Carcinoma
7/304 2%
16/1390 1%
Burkitts Lymphoma
1/32 3%
2/196 1%
Bladder Carcinoma
1/58 2%
12/956 1%
Ovarian Carcinoma
6/109 6%
7/998 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Glioblastoma
1/98 1%
0/0 0%
Osteosarcoma
1/45 2%
1/166 1%
Biliary Tract Carcinoma
2/54 4%
6/950 1%
Hepatocellular Carcinoma
2/46 4%
14/2210 1%
Squamous Cell Lung Carcinoma
1/57 2%
5/810 1%
Non-Cancerous
2/104 2%
3/830 0%
Germ Cell Tumour
1/25 4%
0/169 0%
Esophageal Carcinoma
1/23 4%
3/769 0%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Pancreatic Carcinoma
2/89 2%
6/1611 0%
Medulloblastoma
0/0 0%
2/450 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Glioma
0/52 0%
9/2127 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%

Mutation Distribution

Where KLHDC4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KLHDC4 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 1,061 mutations in KLHDC4

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