|
Fusion gene ID: 27830 |
FusionGeneSummary for PNLIP_CELA2A |
Fusion gene summary |
Fusion gene information | Fusion gene name: PNLIP_CELA2A | Fusion gene ID: 27830 | Hgene | Tgene | Gene symbol | PNLIP | CELA2A | Gene ID | 5406 | 63036 |
Gene name | pancreatic lipase | chymotrypsin like elastase family member 2A | |
Synonyms | PL|PNLIPD|PTL | ELA2A|PE-1 | |
Cytomap | 10q25.3 | 1p36.21 | |
Type of gene | protein-coding | protein-coding | |
Description | pancreatic triacylglycerol lipasetriacylglycerol acylhydrolase | chymotrypsin-like elastase family member 2Aelastase 2Apancreatic elastase 2pancreatic elastase IIA | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | P16233 | P08217 | |
Ensembl transtripts involved in fusion gene | ENST00000369221, ENST00000470562, | ENST00000359621, ENST00000497590, | |
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 2 X 2 X 2=8 |
# samples | 4 | 2 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: PNLIP [Title/Abstract] AND CELA2A [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tissue-specifically expressed gene involved fusion gene, inframe and retained their domain. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PNLIP | GO:0061365 | positive regulation of triglyceride lipase activity | 9631512 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | PAAD | TCGA-2J-AABV-01A | PNLIP | chr10 | 118310744 | + | CELA2A | chr1 | 15798485 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000369221 | ENST00000359621 | PNLIP | chr10 | 118310744 | + | CELA2A | chr1 | 15798485 | + |
5CDS-intron | ENST00000369221 | ENST00000497590 | PNLIP | chr10 | 118310744 | + | CELA2A | chr1 | 15798485 | + |
3UTR-3CDS | ENST00000470562 | ENST00000359621 | PNLIP | chr10 | 118310744 | + | CELA2A | chr1 | 15798485 | + |
3UTR-intron | ENST00000470562 | ENST00000497590 | PNLIP | chr10 | 118310744 | + | CELA2A | chr1 | 15798485 | + |
Top |
FusionProtFeatures for PNLIP_CELA2A |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PNLIP | CELA2A |
Acts upon elastin. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >PNLIP | chr10:118310744 | chr1:15798485 | ENST00000369221 | + | 5 | 13 | 355_465 | 153 | 466 | Domain | PLAT |
Tgene | CELA2A | chr10:118310744 | chr1:15798485 | ENST00000359621 | + | 6 | 8 | 29_267 | 264 | 270 | Domain | Peptidase S1 |
Top |
FusionGeneSequence for PNLIP_CELA2A |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_PNLIP_ENST00000369221_chr10_118310744_+_CELA2A_ENST00000359621_chr1_15798485_+_159aa MLPLWTLSLLLGAVAGKEVCYERLGCFSDDSPWSGITERPLHILPWSPKDVNTRFLLYTNENPNNFQEVAADSSSISGSNFKTNRKTRFI |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_PNLIP_ENST00000369221_chr10_118310744_+_CELA2A_ENST00000359621_chr1_15798485_+_477nt ATGCTGCCACTTTGGACTCTTTCACTGCTGCTGGGAGCAGTAGCAGGAAAAGAAGTTTGCTACGAAAGACTCGGCTGCTTCAGTGATGAC TCCCCATGGTCAGGAATTACGGAAAGACCCCTCCATATATTGCCTTGGTCTCCAAAAGATGTCAACACCCGCTTCCTCCTATATACTAAT GAGAACCCAAACAACTTTCAAGAAGTTGCCGCAGATTCATCAAGCATCAGTGGCTCCAATTTCAAAACAAATAGAAAAACTCGCTTTATT ATTCATGGATTCATAGACAAGGGAGAAGAAAACTGGCTGGCCAATGTGTGCAAGAATCTGTTCAAGGTGGAAAGTGTGAACTGTATCTGT GTGGACTGGAAAGGTGGCTCCCGAACTGGATACACACAAGCCTCGCAGAACATCAGGATCGTGGGAGCAGAAGTGGCATATTTTGTTGAA |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_PNLIP_ENST00000369221_chr10_118310744_+_CELA2A_ENST00000359621_chr1_15798485_+_589nt GCGTGTGGAACCTGACGGAACTGCCACGATGCTGCCACTTTGGACTCTTTCACTGCTGCTGGGAGCAGTAGCAGGAAAAGAAGTTTGCTA CGAAAGACTCGGCTGCTTCAGTGATGACTCCCCATGGTCAGGAATTACGGAAAGACCCCTCCATATATTGCCTTGGTCTCCAAAAGATGT CAACACCCGCTTCCTCCTATATACTAATGAGAACCCAAACAACTTTCAAGAAGTTGCCGCAGATTCATCAAGCATCAGTGGCTCCAATTT CAAAACAAATAGAAAAACTCGCTTTATTATTCATGGATTCATAGACAAGGGAGAAGAAAACTGGCTGGCCAATGTGTGCAAGAATCTGTT CAAGGTGGAAAGTGTGAACTGTATCTGTGTGGACTGGAAAGGTGGCTCCCGAACTGGATACACACAAGCCTCGCAGAACATCAGGATCGT GGGAGCAGAAGTGGCATATTTTGTTGAATTTCTTCAGGTGATTGCAAATAACTAACCAAAAGAAGTCCCTGGGACTGTTTCAGACTTGGA |
Top |
FusionGenePPI for PNLIP_CELA2A |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PNLIP | YWHAE, LMF1, PNLIPRP2, ETNK1, ZNF444, SUMF1, ZGPAT, ZNF787, RSAD1, LAMC1 | CELA2A |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for PNLIP_CELA2A |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | PNLIP | P16233 | DB01083 | Orlistat | Pancreatic triacylglycerol lipase | small molecule | approved|investigational |
Top |
RelatedDiseases for PNLIP_CELA2A |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CELA2A | C0020538 | Hypertensive disease | 1 | CTD_human |