|
Fusion gene ID: 39112 |
FusionGeneSummary for TOR1AIP2_IL4I1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: TOR1AIP2_IL4I1 | Fusion gene ID: 39112 | Hgene | Tgene | Gene symbol | TOR1AIP2 | IL4I1 | Gene ID | 163590 | 259307 |
Gene name | torsin 1A interacting protein 2 | interleukin 4 induced 1 | |
Synonyms | IFRG15|LULL1|NET9 | FIG1|LAAO|LAO | |
Cytomap | 1q25.2 | 19q13.33 | |
Type of gene | protein-coding | protein-coding | |
Description | torsin-1A-interacting protein 2interferon alpha responsive protein15 kDa interferon-responsive proteininterferon responsive gene 15lumenal domain like LAP1torsin A interacting protein 2 | L-amino-acid oxidaseFig-1 proteinIL4-induced protein 1interleukin four induced 1 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q8NFQ8 | Q96RQ9 | |
Ensembl transtripts involved in fusion gene | ENST00000367612, ENST00000609928, ENST00000482587, | ENST00000391826, ENST00000595948, ENST00000341114, | |
Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 4 X 5 X 2=40 |
# samples | 3 | 5 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TOR1AIP2 [Title/Abstract] AND IL4I1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* 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 | TOR1AIP2 | GO:0032781 | positive regulation of ATPase activity | 23569223|24275647 |
Hgene | TOR1AIP2 | GO:0090435 | protein localization to nuclear envelope | 19339278 |
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 |
ChiTaRS3.1 | AA573236 | TOR1AIP2 | chr1 | 179831795 | + | IL4I1 | chr19 | 50412982 | + |
* 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 |
intron-intron | ENST00000367612 | ENST00000391826 | TOR1AIP2 | chr1 | 179831795 | + | IL4I1 | chr19 | 50412982 | + |
intron-intron | ENST00000367612 | ENST00000595948 | TOR1AIP2 | chr1 | 179831795 | + | IL4I1 | chr19 | 50412982 | + |
intron-intron | ENST00000367612 | ENST00000341114 | TOR1AIP2 | chr1 | 179831795 | + | IL4I1 | chr19 | 50412982 | + |
intron-intron | ENST00000609928 | ENST00000391826 | TOR1AIP2 | chr1 | 179831795 | + | IL4I1 | chr19 | 50412982 | + |
intron-intron | ENST00000609928 | ENST00000595948 | TOR1AIP2 | chr1 | 179831795 | + | IL4I1 | chr19 | 50412982 | + |
intron-intron | ENST00000609928 | ENST00000341114 | TOR1AIP2 | chr1 | 179831795 | + | IL4I1 | chr19 | 50412982 | + |
intron-intron | ENST00000482587 | ENST00000391826 | TOR1AIP2 | chr1 | 179831795 | + | IL4I1 | chr19 | 50412982 | + |
intron-intron | ENST00000482587 | ENST00000595948 | TOR1AIP2 | chr1 | 179831795 | + | IL4I1 | chr19 | 50412982 | + |
intron-intron | ENST00000482587 | ENST00000341114 | TOR1AIP2 | chr1 | 179831795 | + | IL4I1 | chr19 | 50412982 | + |
Top |
FusionProtFeatures for TOR1AIP2_IL4I1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TOR1AIP2 | IL4I1 |
Required for endoplasmic reticulum integrity. Regulatesthe distribution of TOR1A between the endoplasmic reticulum andthe nuclear envelope as well as induces TOR1A, TOR1B and TOR3AATPase activity. {ECO:0000269|PubMed:19339278,ECO:0000269|PubMed:23569223, ECO:0000269|PubMed:24275647}. | Lysosomal L-amino-acid oxidase with highest specificactivity with phenylalanine. May play a role in lysosomal antigenprocessing and presentation (By similarity). {ECO:0000250}. |
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 |
Top |
FusionGeneSequence for TOR1AIP2_IL4I1 |
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. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for TOR1AIP2_IL4I1 |
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 |
- 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 TOR1AIP2_IL4I1 |
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 |
Tgene | IL4I1 | Q96RQ9 | DB04272 | Citric Acid | L-amino-acid oxidase | small molecule | approved|nutraceutical|vet_approved |
Top |
RelatedDiseases for TOR1AIP2_IL4I1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |