KBTBD4

Kelch repeat and BTB domain containing 4 Q9NVX7 KBTB4_HUMAN
Protein Coding Chr 11 11p11.2 Swiss-Prot reviewed Entrez 55709
Mutations
832
CL 101 · Tissue 729
Samples
206
CL 44 · Tissue 161
Peptides
189
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
Mutations832101729
Samples20644161
Peptides18934157

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
ENST00000430070 Q9NVX7 210 172
ENST00000533290 Q9NVX7-3 182 157
ENST00000395288 Q9NVX7-1 178 153
ENST00000526005 Q9NVX7-1 178 153
ENST00000525720 E9PQ38* 82 73
ENST00000646317 Q9NVX7-1 2 2

Gene Properties

Type
Protein Coding
Chromosome
11
Cytoband
11p11.2
Entrez ID
Aliases
BKLHD4HSPC252

Recurrent Mutations

All 172 amino-acid changes on canonical ENST00000430070 · 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 KBTBD4 · 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 KBTBD4 – 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
2/40 5%
0/0 0%
Unknown
0/10 0%
1/29 3%
Endometrial Carcinoma
2/42 5%
14/612 2%
Colorectal Carcinoma
14/143 10%
27/3239 1%
Bladder Carcinoma
0/58 0%
12/956 1%
Ovarian Carcinoma
7/109 6%
6/998 1%
Glioblastoma
1/98 1%
0/0 0%
Squamous Cell Lung Carcinoma
0/57 0%
8/810 1%
Gastric Carcinoma
3/74 4%
14/1809 1%
Cervical Carcinoma
2/35 6%
2/422 0%
Burkitts Lymphoma
1/32 3%
1/196 1%
Adrenocortical Carcinoma
1/3 33%
0/112 0%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Medulloblastoma
0/0 0%
3/450 1%
Melanoma
2/210 1%
12/1899 1%
Head and Neck Carcinoma
0/85 0%
6/1574 0%
Non-Small Cell Lung Carcinoma
0/304 0%
6/1390 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Esophageal Carcinoma
1/23 4%
1/769 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
6/2550 0%
Breast Carcinoma
1/144 1%
6/3264 0%
Non-Cancerous
0/104 0%
2/830 0%
Biliary Tract Carcinoma
1/54 2%
1/950 0%
Prostate Carcinoma
1/13 8%
3/2105 0%
Glioma
0/52 0%
4/2127 0%
Thyroid Gland Carcinoma
1/45 2%
2/1592 0%
Pancreatic Carcinoma
2/89 2%
1/1611 0%
Kidney Carcinoma
0/85 0%
3/1862 0%

Mutation Distribution

Where KBTBD4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KBTBD4 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 832 mutations in KBTBD4

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