|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 3774 |
FusionGeneSummary for BACE2_TACR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BACE2_TACR1 | Fusion gene ID: 3774 | Hgene | Tgene | Gene symbol | BACE2 | TACR1 | Gene ID | 25825 | 6869 |
| Gene name | beta-secretase 2 | tachykinin receptor 1 | |
| Synonyms | AEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAP | NK1R|NKIR|SPR|TAC1R | |
| Cytomap | 21q22.2-q22.3 | 2p12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | beta-secretase 256 kDa aspartic-like proteaseDown syndrome region aspartic proteaseSLCO3A1/BACE2 fusionaspartyl protease 1beta-site APP-cleaving enzyme 2beta-site amyloid beta A4 precursor protein-cleaving enzyme 2memapsin-1membrane-associated asp | substance-P receptorNK-1 receptorNK-1Rtachykinin receptor 1 (substance P receptor; neurokinin-1 receptor) | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y5Z0 | P25103 | |
| Ensembl transtripts involved in fusion gene | ENST00000328735, ENST00000330333, ENST00000347667, ENST00000466122, | ENST00000305249, ENST00000409848, ENST00000497764, | |
| Fusion gene scores | * DoF score | 8 X 6 X 5=240 | 3 X 3 X 3=27 |
| # samples | 10 | 3 | |
| ** MAII score | log2(10/240*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BACE2 [Title/Abstract] AND TACR1 [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 | BACE2 | GO:0006509 | membrane protein ectodomain proteolysis | 10591213 |
| Tgene | TACR1 | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 12716968 |
| Tgene | TACR1 | GO:0007217 | tachykinin receptor signaling pathway | 17986524 |
| 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 | SARC | TCGA-DX-A23R-01A | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| * 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-3CDS | ENST00000328735 | ENST00000305249 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| intron-3CDS | ENST00000328735 | ENST00000409848 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| intron-intron | ENST00000328735 | ENST00000497764 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| Frame-shift | ENST00000330333 | ENST00000305249 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| Frame-shift | ENST00000330333 | ENST00000409848 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| 5CDS-intron | ENST00000330333 | ENST00000497764 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| Frame-shift | ENST00000347667 | ENST00000305249 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| Frame-shift | ENST00000347667 | ENST00000409848 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| 5CDS-intron | ENST00000347667 | ENST00000497764 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| 3UTR-3CDS | ENST00000466122 | ENST00000305249 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| 3UTR-3CDS | ENST00000466122 | ENST00000409848 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
| 3UTR-intron | ENST00000466122 | ENST00000497764 | BACE2 | chr21 | 42629253 | + | TACR1 | chr2 | 75278574 | - |
Top |
FusionProtFeatures for BACE2_TACR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BACE2 | TACR1 |
| Responsible for the proteolytic processing of theamyloid precursor protein (APP). Cleaves APP, between residues 690and 691, leading to the generation and extracellular release ofbeta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. Ithas also been shown that it can cleave APP between residues 671and 672. {ECO:0000269|PubMed:10591213,ECO:0000269|PubMed:11083922, ECO:0000269|PubMed:11423558,ECO:0000269|PubMed:15857888, ECO:0000269|PubMed:16816112}. | This is a receptor for the tachykinin neuropeptidesubstance P. It is probably associated with G proteins thatactivate a phosphatidylinositol-calcium second messenger system.The rank order of affinity of this receptor to tachykinins is:substance P > substance K > neuromedin-K. |
| 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 BACE2_TACR1 |
| 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 BACE2_TACR1 |
| 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 |
| BACE2 | GGA1, GGA2, ATP1B3, TMEM30A, HLA-E, MPPE1, ST8SIA4, CHST6, TCTN2, CD1E, CLEC2D, TMPRSS11B, IFNE, ARSG, CD97, TRIM25 | TACR1 | TAC1, GRK5, TAC4, RDH14, CAV1, FADS1, SLMAP, NDUFB8, PKP2, ARVCF, COX1, GPR89A, ARL6IP5, ATP8, MFSD5, NDUFS6, LPCAT3, ND5, ATP12A, KIAA1715, ND4, NDUFB5, PKP4, STX4, ADIPOR1, YIPF3, ND1, CERS2, GPRC5C, SYNGR2, ATP5B, TSPAN3, SLC25A46, KIRREL, FAM213A, TSPAN15, ATP5F1, TMEM164, NDUFC2, RGPD2, GOLGA5, LMBRD2, GPR50, ATP5H, LMBR1, PTPLB |
| - 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 BACE2_TACR1 |
| 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 | TACR1 | P25103 | DB00673 | Aprepitant | Substance-P receptor | small molecule | approved|investigational |
| Tgene | TACR1 | P25103 | DB04894 | Vapreotide | Substance-P receptor | small molecule | approved|investigational |
| Tgene | TACR1 | P25103 | DB01221 | Ketamine | Substance-P receptor | small molecule | approved|vet_approved |
Top |
RelatedDiseases for BACE2_TACR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TACR1 | C0001973 | Alcoholic Intoxication, Chronic | 5 | CTD_human;PSYGENET |
| Tgene | TACR1 | C0011570 | Mental Depression | 5 | PSYGENET |
| Tgene | TACR1 | C0011581 | Depressive disorder | 5 | PSYGENET |
| Tgene | TACR1 | C0525045 | Mood Disorders | 5 | PSYGENET |
| Tgene | TACR1 | C0005586 | Bipolar Disorder | 3 | CTD_human;PSYGENET |
| Tgene | TACR1 | C0020429 | Hyperalgesia | 2 | CTD_human |
| Tgene | TACR1 | C0600467 | Neurogenic Inflammation | 2 | CTD_human |
| Tgene | TACR1 | C0006261 | Bronchial Diseases | 1 | CTD_human |
| Tgene | TACR1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | TACR1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | TACR1 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
| Tgene | TACR1 | C0042963 | Vomiting | 1 | CTD_human |
| Tgene | TACR1 | C0428977 | Bradycardia | 1 | CTD_human |
| Tgene | TACR1 | C1263846 | Attention deficit hyperactivity disorder | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|