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Fusion gene ID: 35794 |
FusionGeneSummary for SPRED1_AP3B2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPRED1_AP3B2 | Fusion gene ID: 35794 | Hgene | Tgene | Gene symbol | SPRED1 | AP3B2 | Gene ID | 161742 | 8120 |
| Gene name | sprouty related EVH1 domain containing 1 | adaptor related protein complex 3 subunit beta 2 | |
| Synonyms | NFLS|PPP1R147|hSpred1|spred-1 | EIEE48|NAPTB | |
| Cytomap | 15q14 | 15q25.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sprouty-related, EVH1 domain-containing protein 1protein phosphatase 1, regulatory subunit 147suppressor of Ras/MAPK activation | AP-3 complex subunit beta-2Neuronal adaptin-like protein, beta-subunitadaptor protein complex AP-3 subunit beta-2adaptor related protein complex 3 beta 2 subunitbeta-3B-adaptinclathrin assembly protein complex 3 beta-2 large chainneuron-specific ves | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q7Z699 | Q13367 | |
| Ensembl transtripts involved in fusion gene | ENST00000299084, ENST00000561205, | ENST00000261722, ENST00000535348, ENST00000535359, ENST00000542200, ENST00000561455, | |
| Fusion gene scores | * DoF score | 6 X 4 X 5=120 | 1 X 1 X 1=1 |
| # samples | 9 | 1 | |
| ** MAII score | log2(9/120*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SPRED1 [Title/Abstract] AND AP3B2 [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 | SPRED1 | GO:0006469 | negative regulation of protein kinase activity | 18216281 |
| Hgene | SPRED1 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
| 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 | READ | TCGA-CI-6621-01A | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
| * 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 |
| Frame-shift | ENST00000299084 | ENST00000261722 | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
| Frame-shift | ENST00000299084 | ENST00000535348 | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
| Frame-shift | ENST00000299084 | ENST00000535359 | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
| Frame-shift | ENST00000299084 | ENST00000542200 | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
| 5CDS-5UTR | ENST00000299084 | ENST00000561455 | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
| 3UTR-3CDS | ENST00000561205 | ENST00000261722 | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
| 3UTR-3CDS | ENST00000561205 | ENST00000535348 | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
| 3UTR-3CDS | ENST00000561205 | ENST00000535359 | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
| 3UTR-3CDS | ENST00000561205 | ENST00000542200 | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
| 3UTR-5UTR | ENST00000561205 | ENST00000561455 | SPRED1 | chr15 | 38591748 | + | AP3B2 | chr15 | 83358205 | - |
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FusionProtFeatures for SPRED1_AP3B2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPRED1 | AP3B2 |
| Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Negatively regulateshematopoiesis of bone marrow (By similarity). {ECO:0000250}. | Subunit of non-clathrin- and clathrin-associated adaptorprotein complex 3 (AP-3) that plays a role in protein sorting inthe late-Golgi/trans-Golgi network (TGN) and/or endosomes. The APcomplexes mediate both the recruitment of clathrin to membranesand the recognition of sorting signals within the cytosolic tailsof transmembrane cargo molecules. AP-3 appears to be involved inthe sorting of a subset of transmembrane proteins targeted tolysosomes and lysosome-related organelles. In concert with theBLOC-1 complex, AP-3 is required to target cargos into vesiclesassembled at cell bodies for delivery into neurites and nerveterminals. |
| 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 SPRED1_AP3B2 |
| 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 SPRED1_AP3B2 |
| 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 |
| SPRED1 | TESK1, OSGEP, FAM118B, TTC19, DNAJB11, CDKN1A, NAGK, RCC1, TSC22D1, PPP1CA, ELAVL1, SUV39H1, ZDHHC17, FBXW7, CDH1, TRIM25 | AP3B2 | CLTC, ARRB2, RUFY1, AP3D1, DTNBP1, EDA, NTRK1, AP3S1, AP3M1 |
| - 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 SPRED1_AP3B2 |
| 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 SPRED1_AP3B2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SPRED1 | C1969623 | NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | SPRED1 | C0027831 | Neurofibromatosis 1 | 1 | CTD_human |
| Hgene | SPRED1 | C0221263 | Cafe-au-Lait Spots | 1 | CTD_human |
| Hgene | SPRED1 | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
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