B9D2

B9 domain containing 2 Q9BPU9 B9D2_HUMAN
Protein Coding Chr 19 19q13.2 Swiss-Prot reviewed Entrez 80776
Mutations
132
CL 27 · Tissue 103
Samples
127
CL 26 · Tissue 99
Peptides
83
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
Mutations13227103
Samples1272699
Peptides831871

Function

B9D2 · B9 domain containing 2

This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009].

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
ENST00000243578 Q9BPU9 132 83

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19q13.2
Entrez ID
Aliases
ICIS-1JBTS34MKS10MKSR-2MKSR2

Recurrent Mutations

All 83 amino-acid changes on canonical ENST00000243578 · 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 B9D2 · 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 B9D2 – 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
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Melanoma
1/210 0%
22/1899 1%
Osteosarcoma
1/45 2%
1/166 1%
Bladder Carcinoma
0/58 0%
7/956 1%
Colorectal Carcinoma
4/143 3%
17/3239 1%
Endometrial Carcinoma
1/42 2%
3/612 0%
Gastric Carcinoma
0/74 0%
10/1809 1%
Non-Small Cell Lung Carcinoma
7/304 2%
2/1390 0%
Mesothelioma
1/62 2%
0/165 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Pancreatic Carcinoma
1/89 1%
4/1611 0%
Other Sarcomas
2/69 3%
0/699 0%
Other Solid Cancers
1/94 1%
3/1515 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Medulloblastoma
0/0 0%
1/450 0%
Non-Cancerous
0/104 0%
2/830 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Kidney Carcinoma
2/85 2%
1/1862 0%
Breast Carcinoma
0/144 0%
4/3264 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Glioma
0/52 0%
2/2127 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
2/2550 0%
B-Lymphoblastic Leukemia
2/55 4%
0/2640 0%
Head and Neck Carcinoma
0/85 0%
1/1574 0%
Other Blood Cancers
1/61 2%
0/2725 0%

Mutation Distribution

Where B9D2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in B9D2 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 132 mutations in B9D2

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