KLHL23

Kelch like family member 23 Q8NBE8 KLH23_HUMAN
Protein Coding Chr 2 2q31.1 Swiss-Prot reviewed Entrez 151230
Mutations
548
CL 86 · Tissue 456
Samples
257
CL 49 · Tissue 204
Peptides
200
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
Mutations54886456
Samples25749204
Peptides20034166

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
ENST00000392647 Q8NBE8 270 199
ENST00000272797 Q8NBE8 240 188
ENST00000602521 S4R452* 38 27

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q31.1
Entrez ID
Aliases
DITHP

Recurrent Mutations

All 199 amino-acid changes on canonical ENST00000392647 · 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 KLHL23 · 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 KLHL23 – 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
6/40 15%
0/0 0%
Endometrial Carcinoma
2/42 5%
19/612 3%
Melanoma
0/210 0%
31/1899 2%
Colorectal Carcinoma
16/143 11%
30/3239 1%
Non-Small Cell Lung Carcinoma
4/304 1%
11/1390 1%
Adrenocortical Carcinoma
1/3 33%
0/112 0%
Hepatocellular Carcinoma
1/46 2%
18/2210 1%
Other Solid Cancers
0/94 0%
13/1515 1%
Squamous Cell Lung Carcinoma
0/57 0%
7/810 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Neuroendocrine Tumour
4/154 3%
1/577 0%
Cervical Carcinoma
0/35 0%
3/422 1%
Gastric Carcinoma
0/74 0%
12/1809 1%
Ovarian Carcinoma
5/109 5%
2/998 0%
Bladder Carcinoma
0/58 0%
6/956 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Osteosarcoma
1/45 2%
0/166 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Mesothelioma
0/62 0%
1/165 1%
Non-Cancerous
1/104 1%
3/830 0%
Wilms Tumour
0/5 0%
2/474 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Other Sarcomas
0/69 0%
3/699 0%
Head and Neck Carcinoma
1/85 1%
5/1574 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Breast Carcinoma
0/144 0%
6/3264 0%

Mutation Distribution

Where KLHL23 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KLHL23 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 548 mutations in KLHL23

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