PPFIBP1

PPFIB scaffold protein 1 Q86W92 LIPB1_HUMAN
Protein Coding Chr 12 12p11.23-p11.22 Swiss-Prot reviewed Entrez 8496
Mutations
1,700
CL 232 · Tissue 1,442
Samples
429
CL 92 · Tissue 329
Peptides
382
unique mutant peptides
Transcripts
7
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
Mutations1,7002321,442
Samples42992329
Peptides38268309

Function

PPFIBP1 · PPFIB scaffold protein 1

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

7 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
ENST00000228425 Q86W92-2 444 323
ENST00000318304 Q86W92 403 313
ENST00000542629 Q86W92-4 390 300
ENST00000537927 Q86W92-3 313 254
ENST00000535047 Q86W92-5 86 55
ENST00000545334 F5H0E0* 63 42
ENST00000540114 F5GZP6* 1 1

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p11.23-p11.22
Entrez ID
Aliases
L2NEDSMBASGT2hSGT2hSgt2p

Recurrent Mutations

All 323 amino-acid changes on canonical ENST00000228425 · 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 PPFIBP1 · 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 PPFIBP1 – 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
6/40 15%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
7/133 5%
Endometrial Carcinoma
4/42 10%
24/612 4%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Mesothelioma
6/62 10%
0/165 0%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Glioblastoma
2/98 2%
0/0 0%
Bladder Carcinoma
4/58 7%
16/956 2%
Other Solid Cancers
1/94 1%
30/1515 2%
Melanoma
4/210 2%
34/1899 2%
Colorectal Carcinoma
11/143 8%
42/3239 1%
Neuroendocrine Tumour
6/154 4%
5/577 1%
Gastric Carcinoma
4/74 5%
24/1809 1%
Head and Neck Carcinoma
3/85 4%
17/1574 1%
Squamous Cell Lung Carcinoma
2/57 4%
8/810 1%
Non-Small Cell Lung Carcinoma
7/304 2%
12/1390 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Germ Cell Tumour
1/25 4%
1/169 1%
Ovarian Carcinoma
4/109 4%
7/998 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Plasma Cell Myeloma
0/44 0%
3/305 1%
Other Sarcomas
2/69 3%
4/699 1%
Glioma
0/52 0%
17/2127 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Breast Carcinoma
10/144 7%
13/3264 0%
Medulloblastoma
0/0 0%
3/450 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Thyroid Gland Carcinoma
2/45 4%
7/1592 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
11/2550 0%

Mutation Distribution

Where PPFIBP1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PPFIBP1 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 1,700 mutations in PPFIBP1

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