HHLA2

HHLA2 member of B7 family Q9UM44 HHLA2_HUMAN
Protein Coding Chr 3 3q13.13 Swiss-Prot reviewed Entrez 11148
Mutations
1,463
CL 177 · Tissue 1,286
Samples
318
CL 60 · Tissue 258
Peptides
227
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
Mutations1,4631771,286
Samples31860258
Peptides22740202

Function

HHLA2 · HHLA2 member of B7 family

This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].

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
ENST00000467761 Q9UM44 335 194
ENST00000489514 Q9UM44 301 188
ENST00000357759 Q9UM44 300 188
ENST00000491820 C9J7D0* 294 182
ENST00000467562 Q9UM44-2 233 158

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3q13.13
Entrez ID
Aliases
B7-H5B7-H7B7H7B7y

Recurrent Mutations

All 194 amino-acid changes on canonical ENST00000467761 · 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 HHLA2 · 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 HHLA2 – 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
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Melanoma
13/210 6%
86/1899 5%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
4/133 3%
Endometrial Carcinoma
4/42 10%
15/612 2%
Non-Small Cell Lung Carcinoma
6/304 2%
11/1390 1%
Bladder Carcinoma
0/58 0%
10/956 1%
Hepatocellular Carcinoma
0/46 0%
21/2210 1%
Other Solid Cancers
0/94 0%
15/1515 1%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Colorectal Carcinoma
5/143 4%
24/3239 1%
Esophageal Carcinoma
0/23 0%
6/769 1%
Squamous Cell Lung Carcinoma
0/57 0%
6/810 1%
Cervical Carcinoma
2/35 6%
1/422 0%
Gastric Carcinoma
2/74 3%
9/1809 0%
Non-Cancerous
2/104 2%
3/830 0%
Other Sarcomas
1/69 1%
3/699 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Osteosarcoma
1/45 2%
0/166 0%
Ovarian Carcinoma
3/109 3%
2/998 0%
Mesothelioma
1/62 2%
0/165 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
8/2550 0%
Glioma
0/52 0%
7/2127 0%
Breast Carcinoma
5/144 3%
6/3264 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Head and Neck Carcinoma
1/85 1%
4/1574 0%
Medulloblastoma
0/0 0%
1/450 0%
Neuroblastoma
2/87 2%
0/1331 0%

Mutation Distribution

Where HHLA2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in HHLA2 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 44 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 1,463 mutations in HHLA2

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