KLHL14

Kelch like family member 14 Q9P2G3 KLH14_HUMAN
Protein Coding Chr 18 18q12.1 Swiss-Prot reviewed Entrez 57565
Mutations
669
CL 121 · Tissue 536
Samples
432
CL 93 · Tissue 331
Peptides
344
unique mutant peptides
Transcripts
2
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
Mutations669121536
Samples43293331
Peptides34467281

Function

KLHL14 · Kelch like family member 14

The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015].

Isoforms & Proteins

2 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
ENST00000359358 Q9P2G3 449 326
ENST00000358095 Q9P2G3-2 220 176

Gene Properties

Type
Protein Coding
Chromosome
18
Cytoband
18q12.1
Entrez ID

Recurrent Mutations

All 326 amino-acid changes on canonical ENST00000359358 · 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 KLHL14 · 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 KLHL14 – 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
4/40 10%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Glioblastoma
3/98 3%
0/0 0%
Non-Small Cell Lung Carcinoma
18/304 6%
29/1390 2%
Melanoma
9/210 4%
46/1899 2%
Endometrial Carcinoma
3/42 7%
13/612 2%
Squamous Cell Lung Carcinoma
7/57 12%
12/810 1%
Gastric Carcinoma
1/74 1%
40/1809 2%
Colorectal Carcinoma
8/143 6%
49/3239 2%
Small Cell Lung Carcinoma
0/9 0%
9/752 1%
Other Solid Cancers
0/94 0%
18/1515 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Neuroendocrine Tumour
5/154 3%
2/577 0%
Cervical Carcinoma
0/35 0%
4/422 1%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Hodgkins Lymphoma
0/16 0%
1/122 1%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
18/2534 1%
Ovarian Carcinoma
2/109 2%
6/998 1%
Glioma
0/52 0%
15/2127 1%
Bladder Carcinoma
1/58 2%
6/956 1%
Other Sarcomas
3/69 4%
2/699 0%
Hepatocellular Carcinoma
2/46 4%
12/2210 1%
Ewings Sarcoma
2/63 3%
0/262 0%
Thyroid Gland Carcinoma
4/45 9%
5/1592 0%
Breast Carcinoma
4/144 3%
14/3264 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Other Blood Cancers
2/61 3%
10/2725 0%
Non-Cancerous
2/104 2%
2/830 0%
Head and Neck Carcinoma
0/85 0%
7/1574 0%
Esophageal Carcinoma
0/23 0%
2/769 0%

Mutation Distribution

Where KLHL14 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KLHL14 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 53 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 669 mutations in KLHL14

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