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Fusion gene ID: 33110 |
FusionGeneSummary for SEH1L_IMPA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEH1L_IMPA2 | Fusion gene ID: 33110 | Hgene | Tgene | Gene symbol | SEH1L | IMPA2 | Gene ID | 81929 | 3613 |
| Gene name | SEH1 like nucleoporin | inositol monophosphatase 2 | |
| Synonyms | SEC13L|SEH1A|SEH1B|Seh1 | - | |
| Cytomap | 18p11.21 | 18p11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nucleoporin SEH1GATOR complex protein SEH1SEC13-like proteinnup107-160 subcomplex subunit SEH1sec13 like protein | inositol monophosphatase 2IMP 2IMPase 2inosine monophosphatase 2inositol monophosphatase 2 variant 1inositol monophosphatase 2 variant 2inositol(myo)-1(or 4)-monophosphatase 2myo-inositol monophosphatase 2myo-inositol monophosphatase A2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96EE3 | O14732 | |
| Ensembl transtripts involved in fusion gene | ENST00000262124, ENST00000399892, ENST00000592582, | ENST00000588752, ENST00000589238, ENST00000269159, ENST00000588927, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 6 X 5 X 5=150 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SEH1L [Title/Abstract] AND IMPA2 [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 |
| Tgene | IMPA2 | GO:0046855 | inositol phosphate dephosphorylation | 17068342 |
| 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 | RV | PAAD | TCGA-IB-A7M4-01A | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| * 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 |
| 5CDS-3UTR | ENST00000262124 | ENST00000588752 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| 5CDS-5UTR | ENST00000262124 | ENST00000589238 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| 5CDS-5UTR | ENST00000262124 | ENST00000269159 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| 5CDS-intron | ENST00000262124 | ENST00000588927 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| 5CDS-3UTR | ENST00000399892 | ENST00000588752 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| 5CDS-5UTR | ENST00000399892 | ENST00000589238 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| 5CDS-5UTR | ENST00000399892 | ENST00000269159 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| 5CDS-intron | ENST00000399892 | ENST00000588927 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| intron-3UTR | ENST00000592582 | ENST00000588752 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| intron-5UTR | ENST00000592582 | ENST00000589238 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| intron-5UTR | ENST00000592582 | ENST00000269159 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
| intron-intron | ENST00000592582 | ENST00000588927 | SEH1L | chr18 | 12951904 | + | IMPA2 | chr18 | 11999053 | + |
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FusionProtFeatures for SEH1L_IMPA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEH1L | IMPA2 |
| Component of the Nup107-160 subcomplex of the nuclearpore complex (NPC). The Nup107-160 subcomplex is required for theassembly of a functional NPC. The Nup107-160 subcomplex is alsorequired for normal kinetochore microtubule attachment, mitoticprogression and chromosome segregation. This subunit plays a rolein recruitment of the Nup107-160 subcomplex to the kinetochore.{ECO:0000269|PubMed:15146057, ECO:0000269|PubMed:17363900}. As a component of the GATOR subcomplex GATOR2, functionswithin the amino acid-sensing branch of the TORC1 signalingpathway. Indirectly activates mTORC1 and the TORC1 signalingpathway through the inhibition of the GATOR1 subcomplex(PubMed:23723238). It is negatively regulated by the upstreamamino acid sensors SESN2 and CASTOR1 (PubMed:25457612,PubMed:27487210). {ECO:0000269|PubMed:23723238,ECO:0000269|PubMed:25457612, ECO:0000269|PubMed:27487210}. | Can use myo-inositol monophosphates, scylloinositol 1,4-diphosphate, glucose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. Has been implicated as the pharmacologicaltarget for lithium Li(+) action in brain.{ECO:0000269|PubMed:17068342}. |
| 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 |
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FusionGeneSequence for SEH1L_IMPA2 |
| 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). |
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FusionGenePPI for SEH1L_IMPA2 |
| 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 |
| SEH1L | NUP107, NUP85, NUP133, USP32P2, RAE1, BECN1, SAP25, ELAVL1, COPS5, ATP6V0A1, HECW2, NUP160, NUP37, NUP43, ACTR1B, DCTN2, DCTN4, RPA3, RPA2, RPA1, QPRT, SEC13, CRYAB, NUP98, IFI16, BUB1, GLE1, NUP88, RANBP2, RANGAP1, CCT3, SUMO1, NUP214, AAAS, NUP155, NUP93, NUP153, NXF1, CCT7, CCT4, CCT5, NUP205, NUP210, NUP188, MIOS, TMEM214, NDC1, WDR59, KPNB1, UBE2I, WDR24, TMEM209, NUP35, PPP1R37, POM121C, NPRL2, SNW1, CDC5L, MTMR14, NELL2, PDGFD, PLA2G10, CCDC102B, C16orf71, FAM131B | IMPA2 | TNFRSF14, IMPA1, IMPA2, UBA3, SPACA1, A4GNT, HSF2, ALDOA, ALDOC, ARHGDIA, DUT, FSCN1, GPX4, ADSS, CARHSP1, CYCS, GLO1, HSPE1, NUDT9, PAICS, PARK7, PGLS, PLIN3, RPE, STMN1, TXN, ITPA, MSN, PABPC4, PDCD6, RDX, SCPEP1, NPPA, RBFOX1, ZIC1, AAR2, TRIM25 |
| - 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 |
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RelatedDrugs for SEH1L_IMPA2 |
| 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 | IMPA2 | O14732 | DB01356 | Lithium | Inositol monophosphatase 2 | small molecule | approved |
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RelatedDiseases for SEH1L_IMPA2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | IMPA2 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Tgene | IMPA2 | C0525045 | Mood Disorders | 2 | PSYGENET |
| Tgene | IMPA2 | C0009952 | Febrile Convulsions | 1 | CTD_human |
| Tgene | IMPA2 | C0011570 | Mental Depression | 1 | PSYGENET |
| Tgene | IMPA2 | C0011581 | Depressive disorder | 1 | PSYGENET |
| Tgene | IMPA2 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | IMPA2 | C0036341 | Schizophrenia | 1 | PSYGENET |
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