KHDRBS2

KH RNA binding domain containing, signal transduction associated 2 Q5VWX1 KHDR2_HUMAN
Protein Coding Chr 6 6q11.1 Swiss-Prot reviewed Entrez 202559
Mutations
589
CL 104 · Tissue 480
Samples
538
CL 93 · Tissue 440
Peptides
355
unique mutant peptides
Transcripts
1
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
Mutations589104480
Samples53893440
Peptides35561309

Function

KHDRBS2 · KH RNA binding domain containing, signal transduction associated 2

Predicted to enable mRNA binding activity and poly(A) binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

1 transcript · 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
ENST00000281156 Q5VWX1 589 355

Gene Properties

Type
Protein Coding
Chromosome
6
Cytoband
6q11.1
Entrez ID
Aliases
KHDRBS2-OTKHDRBS2-OT1SLM-1SLM1

Recurrent Mutations

All 355 amino-acid changes on canonical ENST00000281156 · 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 KHDRBS2 · 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 KHDRBS2 – 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%
Melanoma
15/210 7%
102/1899 5%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
4/42 10%
18/612 3%
Other Solid Cancers
4/94 4%
40/1515 3%
Squamous Cell Lung Carcinoma
6/57 11%
17/810 2%
Gastric Carcinoma
2/74 3%
38/1809 2%
Glioblastoma
2/98 2%
0/0 0%
Non-Small Cell Lung Carcinoma
6/304 2%
22/1390 2%
Colorectal Carcinoma
8/143 6%
43/3239 1%
Bladder Carcinoma
0/58 0%
15/956 2%
Neuroendocrine Tumour
7/154 5%
2/577 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Esophageal Carcinoma
2/23 9%
6/769 1%
Esophageal Squamous Cell Carcinoma
5/51 10%
21/2550 1%
Biliary Tract Carcinoma
1/54 2%
9/950 1%
Head and Neck Carcinoma
1/85 1%
15/1574 1%
Hepatocellular Carcinoma
2/46 4%
19/2210 1%
Other Sarcomas
2/69 3%
4/699 1%
Pancreatic Carcinoma
4/89 4%
8/1611 0%
Small Cell Lung Carcinoma
2/9 22%
3/752 0%
Ovarian Carcinoma
1/109 1%
6/998 1%
Ewings Sarcoma
1/63 2%
1/262 0%
Non-Cancerous
0/104 0%
5/830 1%
Thyroid Gland Carcinoma
0/45 0%
8/1592 0%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Osteosarcoma
0/45 0%
1/166 1%
Glioma
1/52 2%
9/2127 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Mesothelioma
1/62 2%
0/165 0%

Mutation Distribution

Where KHDRBS2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KHDRBS2 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 48 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 589 mutations in KHDRBS2

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