ISCA2

Iron-sulfur cluster assembly 2 Q86U28 ISCA2_HUMAN
Protein Coding Chr 14 14q24.3 Swiss-Prot reviewed Entrez 122961
Mutations
94
CL 14 · Tissue 77
Samples
49
CL 9 · Tissue 38
Peptides
49
unique mutant peptides
Transcripts
3
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
Mutations941477
Samples49938
Peptides49640

Function

ISCA2 · Iron-sulfur cluster assembly 2

The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012].

Isoforms & Proteins

3 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
ENST00000556816 Q86U28 49 40
ENST00000298818 J3QSS7* 32 27
ENST00000554924 Q86U28-2 13 12

Gene Properties

Type
Protein Coding
Chromosome
14
Cytoband
14q24.3
Entrez ID
Aliases
HBLD1ISA2MMDS4c14_5557

Recurrent Mutations

All 40 amino-acid changes on canonical ENST00000556816 · 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 ISCA2 · 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 ISCA2 – 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
Endometrial Carcinoma
2/42 5%
4/612 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Melanoma
0/210 0%
7/1899 0%
Gastric Carcinoma
0/74 0%
6/1809 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Other Solid Cancers
3/94 3%
1/1515 0%
Non-Small Cell Lung Carcinoma
3/304 1%
1/1390 0%
Colorectal Carcinoma
0/143 0%
6/3239 0%
Ovarian Carcinoma
1/109 1%
1/998 0%
Neuroblastoma
0/87 0%
2/1331 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
2/2534 0%
Head and Neck Carcinoma
0/85 0%
1/1574 0%
Hepatocellular Carcinoma
0/46 0%
1/2210 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%
Other Blood Cancers
0/61 0%
1/2725 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%

Mutation Distribution

Where ISCA2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ISCA2 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 94 mutations in ISCA2

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