ACIN1

Apoptotic chromatin condensation inducer 1 Q9UKV3 ACINU_HUMAN
Protein Coding Chr 14 14q11.2 Swiss-Prot reviewed Entrez 22985
Mutations
3,273
CL 383 · Tissue 2,854
Samples
551
CL 106 · Tissue 439
Peptides
464
unique mutant peptides
Transcripts
8
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
Mutations3,2733832,854
Samples551106439
Peptides46474400

Function

ACIN1 · Apoptotic chromatin condensation inducer 1

Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011].

Isoforms & Proteins

8 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
ENST00000605057 S4R3H4* 589 407
ENST00000262710 Q9UKV3 561 411
ENST00000555053 Q9UKV3-5 553 406
ENST00000457657 E7EQT4* 542 399
ENST00000338631 Q9UKV3-2 266 198
ENST00000357481 Q9UKV3-3 254 189
ENST00000397341 Q9UKV3-3 254 189
ENST00000557515 G3V3B0* 254 189

Gene Properties

Type
Protein Coding
Chromosome
14
Cytoband
14q11.2
Entrez ID
Aliases
ACINUSACNfSAP152

Recurrent Mutations

All 411 amino-acid changes on canonical ENST00000262710 · 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 ACIN1 · 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 ACIN1 – 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
3/40 8%
0/0 0%
Endometrial Carcinoma
10/42 24%
22/612 4%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Non-Small Cell Lung Carcinoma
24/304 8%
33/1390 2%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Bladder Carcinoma
0/58 0%
30/956 3%
Hodgkins Lymphoma
3/16 19%
1/122 1%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Cervical Carcinoma
2/35 6%
8/422 2%
Colorectal Carcinoma
10/143 7%
64/3239 2%
Germ Cell Tumour
2/25 8%
2/169 1%
Glioblastoma
2/98 2%
0/0 0%
Other Solid Cancers
5/94 5%
25/1515 2%
Gastric Carcinoma
4/74 5%
31/1809 2%
Melanoma
0/210 0%
39/1899 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Rhabdomyosarcoma
1/33 3%
2/171 1%
Neuroendocrine Tumour
5/154 3%
5/577 1%
Burkitts Lymphoma
2/32 6%
1/196 1%
Esophageal Carcinoma
0/23 0%
10/769 1%
Chondrosarcoma
1/14 7%
0/75 0%
Squamous Cell Lung Carcinoma
3/57 5%
6/810 1%
Other Sarcomas
2/69 3%
6/699 1%
Hepatocellular Carcinoma
1/46 2%
19/2210 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Thyroid Gland Carcinoma
2/45 4%
12/1592 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
21/2550 1%
Ovarian Carcinoma
3/109 3%
5/998 0%
Head and Neck Carcinoma
2/85 2%
10/1574 1%

Mutation Distribution

Where ACIN1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ACIN1 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 3,273 mutations in ACIN1

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