PACSIN2

Protein kinase C and casein kinase substrate in neurons 2 Q9UNF0 PACN2_HUMAN
Protein Coding Chr 22 22q13.2 Swiss-Prot reviewed Entrez 11252
Mutations
919
CL 102 · Tissue 810
Samples
195
CL 31 · Tissue 162
Peptides
154
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
Mutations919102810
Samples19531162
Peptides15424131

Function

PACSIN2 · Protein kinase C and casein kinase substrate in neurons 2

This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010].

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
ENST00000263246 Q9UNF0 203 151
ENST00000402229 Q9UNF0 187 144
ENST00000403744 Q9UNF0 187 144
ENST00000337959 Q9UNF0-2 171 133
ENST00000407585 Q9UNF0-2 171 133

Gene Properties

Type
Protein Coding
Chromosome
22
Cytoband
22q13.2
Entrez ID
Aliases
SDPII

Recurrent Mutations

All 151 amino-acid changes on canonical ENST00000263246 · 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 PACSIN2 · 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 PACSIN2 – 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
1/40 2%
0/0 0%
Endometrial Carcinoma
1/42 2%
10/612 2%
Mesothelioma
3/62 5%
0/165 0%
Burkitts Lymphoma
0/32 0%
3/196 2%
Melanoma
5/210 2%
22/1899 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Colorectal Carcinoma
7/143 5%
30/3239 1%
Gastric Carcinoma
0/74 0%
16/1809 1%
Other Solid Cancers
1/94 1%
9/1515 1%
Ewings Sarcoma
2/63 3%
0/262 0%
Head and Neck Carcinoma
1/85 1%
9/1574 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
14/2550 1%
Non-Small Cell Lung Carcinoma
3/304 1%
5/1390 0%
Medulloblastoma
0/0 0%
2/450 0%
Neuroendocrine Tumour
0/154 0%
3/577 1%
Other Sarcomas
0/69 0%
3/699 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Ovarian Carcinoma
2/109 2%
2/998 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Pancreatic Carcinoma
0/89 0%
4/1611 0%
Squamous Cell Lung Carcinoma
0/57 0%
2/810 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Neuroblastoma
1/87 1%
2/1331 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Hepatocellular Carcinoma
1/46 2%
3/2210 0%
Breast Carcinoma
0/144 0%
5/3264 0%
Glioma
0/52 0%
3/2127 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
2/2534 0%
Non-Cancerous
0/104 0%
1/830 0%

Mutation Distribution

Where PACSIN2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PACSIN2 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 919 mutations in PACSIN2

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