PABIR2

PABIR family member 2 Q7Z309 PBIR2_HUMAN
Protein Coding Chr X Xq26.3 Swiss-Prot reviewed Entrez 159090
Mutations
17
CL 7 · Tissue 0
Samples
13
CL 7 · Tissue 0
Peptides
17
unique mutant peptides
Transcripts
2
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
Mutations1770
Samples1370
Peptides1770

Function

PABIR2 · PABIR family member 2

Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in negative regulation of catalytic activity. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

2 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
ENST00000343004 A0ACM8QBP4* 11 11
ENST00000370790 Q7Z309 6 6

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xq26.3
Entrez ID
Aliases
FAM122BSPACIA2

Recurrent Mutations

All 6 amino-acid changes on canonical ENST00000370790 · 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 PABIR2 · 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 PABIR2 – 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
1/42 2%
1/612 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Colorectal Carcinoma
4/143 3%
0/3239 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Other Solid Cancers
1/94 1%
0/1515 0%
Glioma
0/52 0%
1/2127 0%
Hepatocellular Carcinoma
0/46 0%
1/2210 0%
Other Blood Cancers
1/61 2%
0/2725 0%
Breast Carcinoma
0/144 0%
1/3264 0%

Mutation Distribution

Where PABIR2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PABIR2 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.

Mutations

All 17 mutations in PABIR2

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