SP110

SP110 nuclear body protein Q9HB58 SP110_HUMAN
Protein Coding Chr 2 2q37.1 Swiss-Prot reviewed Entrez 3431
Mutations
1,871
CL 211 · Tissue 1,648
Samples
386
CL 69 · Tissue 312
Peptides
296
unique mutant peptides
Transcripts
5
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
Mutations1,8712111,648
Samples38669312
Peptides29650252

Function

SP110 · SP110 nuclear body protein

The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

5 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
ENST00000258381 Q9HB58-6 448 261
ENST00000358662 Q9HB58 403 239
ENST00000258382 Q9HB58-3 340 196
ENST00000392048 G5E9C0* 340 196
ENST00000540870 Q9HB58-7 340 196

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q37.1
Entrez ID
Aliases
IFI41IFI75IPR1VODI

Recurrent Mutations

All 261 amino-acid changes on canonical ENST00000258381 · 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 SP110 · 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 SP110 – 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%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Endometrial Carcinoma
3/42 7%
26/612 4%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Germ Cell Tumour
1/25 4%
3/169 2%
Melanoma
8/210 4%
34/1899 2%
Rhabdomyosarcoma
0/33 0%
4/171 2%
Non-Small Cell Lung Carcinoma
15/304 5%
16/1390 1%
Colorectal Carcinoma
11/143 8%
40/3239 1%
Pheochromocytoma and Paraganglioma
0/0 0%
1/71 1%
Gastric Carcinoma
2/74 3%
24/1809 1%
Bladder Carcinoma
1/58 2%
12/956 1%
Other Solid Cancers
1/94 1%
17/1515 1%
Ewings Sarcoma
2/63 3%
1/262 0%
Biliary Tract Carcinoma
3/54 6%
6/950 1%
Esophageal Carcinoma
0/23 0%
7/769 1%
Meningioma
0/3 0%
2/252 1%
Glioma
0/52 0%
15/2127 1%
Squamous Cell Lung Carcinoma
2/57 4%
4/810 0%
Neuroendocrine Tumour
0/154 0%
5/577 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Non-Cancerous
1/104 1%
5/830 1%
Neuroblastoma
3/87 3%
6/1331 0%
Thyroid Gland Carcinoma
0/45 0%
9/1592 1%
Ovarian Carcinoma
3/109 3%
3/998 0%
Prostate Carcinoma
1/13 8%
10/2105 0%
Head and Neck Carcinoma
0/85 0%
8/1574 1%
Osteosarcoma
1/45 2%
0/166 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Medulloblastoma
0/0 0%
2/450 0%

Mutation Distribution

Where SP110 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SP110 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 1,871 mutations in SP110

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