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Fusion gene ID: 10366 |
FusionGeneSummary for DOC2B_APBB2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DOC2B_APBB2 | Fusion gene ID: 10366 | Hgene | Tgene | Gene symbol | DOC2B | APBB2 | Gene ID | 8447 | 323 |
| Gene name | double C2 domain beta | amyloid beta precursor protein binding family B member 2 | |
| Synonyms | DOC2BL | FE65L|FE65L1 | |
| Cytomap | 17p13.3 | 4p14-p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | double C2-like domain-containing protein betadoc2-betadouble C2-like domains, beta | amyloid-beta A4 precursor protein-binding family B member 2Fe65-like 1protein Fe65-like 1 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q14184 | Q92870 | |
| Ensembl transtripts involved in fusion gene | ENST00000343572, ENST00000609727, | ENST00000295974, ENST00000513140, ENST00000508593, ENST00000506352, ENST00000511572, ENST00000543538, ENST00000502841, ENST00000504305, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 5 X 6=150 |
| # samples | 1 | 8 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(8/150*10)=-0.906890595608519 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DOC2B [Title/Abstract] AND APBB2 [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 |
| 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 | LUAD | TCGA-91-6831-01A | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| * 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-5UTR | ENST00000343572 | ENST00000295974 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-5UTR | ENST00000343572 | ENST00000513140 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-5UTR | ENST00000343572 | ENST00000508593 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-5UTR | ENST00000343572 | ENST00000506352 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-5UTR | ENST00000343572 | ENST00000511572 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-intron | ENST00000343572 | ENST00000543538 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-intron | ENST00000343572 | ENST00000502841 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-intron | ENST00000343572 | ENST00000504305 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-5UTR | ENST00000609727 | ENST00000295974 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-5UTR | ENST00000609727 | ENST00000513140 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-5UTR | ENST00000609727 | ENST00000508593 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-5UTR | ENST00000609727 | ENST00000506352 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-5UTR | ENST00000609727 | ENST00000511572 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-intron | ENST00000609727 | ENST00000543538 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-intron | ENST00000609727 | ENST00000502841 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
| intron-intron | ENST00000609727 | ENST00000504305 | DOC2B | chr17 | 6011 | - | APBB2 | chr4 | 41102767 | - |
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FusionProtFeatures for DOC2B_APBB2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DOC2B | APBB2 |
| Calcium sensor which positively regulates SNARE-dependent fusion of vesicles with membranes. Binds phospholipidsin a calcium-dependent manner and may act at the priming stage offusion by modifying membrane curvature to stimulate fusion.Involved in calcium-triggered exocytosis in chromaffin cells andcalcium-dependent spontaneous release of neurotransmitter inabsence of action potentials in neuronal cells. Involved both inglucose-stimulated insulin secretion in pancreatic cells andinsulin-dependent GLUT4 transport to the plasma membrane inadipocytes (By similarity). {ECO:0000250,ECO:0000269|PubMed:9804756}. | May modulate the internalization of amyloid-betaprecursor protein. |
| 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 DOC2B_APBB2 |
| 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 DOC2B_APBB2 |
| 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 |
| DOC2B | DOC2A, RPH3A | APBB2 | APP, EGFR, HSPA8, TBC1D4, OSBPL2, APLP2, APBB1, AKAP1, GOPC, TUBA1A, APLP1, CBWD1, APOL2, RAP1GDS1, SYDE2, ATP7A, WDR41, TBC1D2B, FMN2, QTRT1, LDHAL6B, WISP3, NCK1, SORT1, SYNCRIP, MRPL1, GAN, TMEM30B, ADCYAP1, VAV1, HGFAC |
| - 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 DOC2B_APBB2 |
| 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 DOC2B_APBB2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | APBB2 | C0043094 | Weight Gain | 1 | CTD_human |
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