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Fusion gene ID: 17915 |
FusionGeneSummary for ITM2B_TTC3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ITM2B_TTC3 | Fusion gene ID: 17915 | Hgene | Tgene | Gene symbol | ITM2B | TTC3 | Gene ID | 9445 | 7267 |
| Gene name | integral membrane protein 2B | tetratricopeptide repeat domain 3 | |
| Synonyms | ABRI|BRI|BRI2|BRICD2B|E25B|E3-16|FBD|RDGCA|imBRI2 | DCRR1|RNF105|TPRDIII | |
| Cytomap | 13q14.2 | 21q22.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | integral membrane protein 2BABri/ADan amyloid peptideBRICHOS domain containing 2Bimmature BRI2transmembrane protein BRI | E3 ubiquitin-protein ligase TTC3RING finger protein 105RING-type E3 ubiquitin transferase TTC3TPR repeat protein 3TPR repeat protein Dtetratricopeptide repeat protein 3 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9Y287 | P53804 | |
| Ensembl transtripts involved in fusion gene | ENST00000378565, ENST00000378549, | ENST00000355666, ENST00000399017, ENST00000354749, ENST00000479930, ENST00000540756, ENST00000399010, | |
| Fusion gene scores | * DoF score | 9 X 5 X 9=405 | 9 X 12 X 7=756 |
| # samples | 12 | 14 | |
| ** MAII score | log2(12/405*10)=-1.75488750216347 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/756*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ITM2B [Title/Abstract] AND TTC3 [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 | ITM2B | GO:0042985 | negative regulation of amyloid precursor protein biosynthetic process | 16027166|18524908 |
| Tgene | TTC3 | GO:0006511 | ubiquitin-dependent protein catabolic process | 20059950 |
| Tgene | TTC3 | GO:0070936 | protein K48-linked ubiquitination | 20059950 |
| 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 | SKCM | TCGA-FW-A5DX-01A | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| * 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 |
| 3UTR-3CDS | ENST00000378565 | ENST00000355666 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-3CDS | ENST00000378565 | ENST00000399017 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-3CDS | ENST00000378565 | ENST00000354749 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-intron | ENST00000378565 | ENST00000479930 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-intron | ENST00000378565 | ENST00000540756 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-intron | ENST00000378565 | ENST00000399010 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-3CDS | ENST00000378549 | ENST00000355666 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-3CDS | ENST00000378549 | ENST00000399017 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-3CDS | ENST00000378549 | ENST00000354749 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-intron | ENST00000378549 | ENST00000479930 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-intron | ENST00000378549 | ENST00000540756 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
| 3UTR-intron | ENST00000378549 | ENST00000399010 | ITM2B | chr13 | 48835457 | + | TTC3 | chr21 | 38466305 | + |
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FusionProtFeatures for ITM2B_TTC3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ITM2B | TTC3 |
| Plays a regulatory role in the processing of theamyloid-beta A4 precursor protein (APP) and acts as an inhibitorof the amyloid-beta peptide aggregation and fibrils deposition.Plays a role in the induction of neurite outgrowth. Functions as aprotease inhibitor by blocking access of secretases to APPcleavage sites. Mature BRI2 (mBRI2) functions as a modulator of theamyloid-beta A4 precursor protein (APP) processing leading to astrong reduction in the secretion of secretase-processed amyloid-beta protein 40 and amyloid-beta protein 42. Bri23 peptide prevents aggregation of APP amyloid-betaprotein 42 into toxic oligomers. |
| 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 ITM2B_TTC3 |
| 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 ITM2B_TTC3 |
| 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 |
| ITM2B | BCL2, RYK, CCDC155, SYNE4, NAALADL2, HLA-A, UBR1, DCBLD2, MR1, BTN2A2, SEMA4F, ATF6B, CHST12, TMEM59L, TMEM219, HS6ST1, PGAP1, GLG1, SEMA6A, CACNA2D1, B4GALNT1, TGFBR3, LRFN3, KIAA1467, AMIGO1, UNK, TMEM17, CREB3, KIF18A, POU5F1, FCGRT, LMNA | TTC3 | AKT1, AKT2, AKT3, UBE3A, UBC, UBE2D2, HSPB1, CSNK2A2, RAB5C, FGFR1OP, WAPAL, PARD6A, SMC6, KIF18A, DSN1, KRBOX4, DYNC2LI1 |
| - 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 ITM2B_TTC3 |
| 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 |
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RelatedDiseases for ITM2B_TTC3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ITM2B | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | ITM2B | C4015146 | RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES | 1 | ORPHANET;UNIPROT |
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