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Fusion gene ID: 1620 |
FusionGeneSummary for AMOTL1_CCDC88B |
Fusion gene summary |
Fusion gene information | Fusion gene name: AMOTL1_CCDC88B | Fusion gene ID: 1620 | Hgene | Tgene | Gene symbol | AMOTL1 | CCDC88B | Gene ID | 154810 | 283234 |
Gene name | angiomotin like 1 | coiled-coil domain containing 88B | |
Synonyms | JEAP | BRLZ|CCDC88|HKRP3|gipie | |
Cytomap | 11q21 | 11q13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | angiomotin-like protein 1junction-enriched and associated protein | coiled-coil domain-containing protein 88B78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stressGRP78-interacting protein induced by ER stressbrain leucine zipper domain-containing proteinbrain leucine zipper proteincoiled-c | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q8IY63 | A6NC98 | |
Ensembl transtripts involved in fusion gene | ENST00000317829, ENST00000317837, ENST00000433060, ENST00000539727, | ENST00000463837, ENST00000356786, ENST00000301897, ENST00000359902, | |
Fusion gene scores | * DoF score | 5 X 5 X 5=125 | 4 X 4 X 4=64 |
# samples | 6 | 5 | |
** MAII score | log2(6/125*10)=-1.05889368905357 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/64*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AMOTL1 [Title/Abstract] AND CCDC88B [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 | RV | LGG | TCGA-FG-5963-01A | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
TCGA | RV | LGG | TCGA-FG-5963-02A | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
* 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 | ENST00000317829 | ENST00000463837 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
5CDS-3UTR | ENST00000317829 | ENST00000356786 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
5CDS-5UTR | ENST00000317829 | ENST00000301897 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
5CDS-5UTR | ENST00000317829 | ENST00000359902 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
intron-3UTR | ENST00000317837 | ENST00000463837 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
intron-3UTR | ENST00000317837 | ENST00000356786 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
intron-5UTR | ENST00000317837 | ENST00000301897 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
intron-5UTR | ENST00000317837 | ENST00000359902 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
5CDS-3UTR | ENST00000433060 | ENST00000463837 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
5CDS-3UTR | ENST00000433060 | ENST00000356786 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
5CDS-5UTR | ENST00000433060 | ENST00000301897 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
5CDS-5UTR | ENST00000433060 | ENST00000359902 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
intron-3UTR | ENST00000539727 | ENST00000463837 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
intron-3UTR | ENST00000539727 | ENST00000356786 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
intron-5UTR | ENST00000539727 | ENST00000301897 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
intron-5UTR | ENST00000539727 | ENST00000359902 | AMOTL1 | chr11 | 94587247 | + | CCDC88B | chr11 | 64118948 | + |
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FusionProtFeatures for AMOTL1_CCDC88B |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
AMOTL1 | CCDC88B |
Inhibits the Wnt/beta-catenin signaling pathway,probably by recruiting CTNNB1 to recycling endosomes and hencepreventing its translocation to the nucleus.{ECO:0000269|PubMed:22362771}. | Acts as a positive regulator of T-cell maturation andinflammatory function. Required for several functions of T-cells,in both the CD4(+) and the CD8(+) compartments and this includesexpression of cell surface markers of activation, proliferation,and cytokine production in response to specific or non-specificstimulation (By similarity). Enhances NK cell cytotoxicity bypositively regulating polarization of microtubule-organizingcenter (MTOC) to cytotoxic synapse, lytic granule transport alongmicrotubules, and dynein-mediated clustering to MTOC(PubMed:25762780). Interacts with HSPA5 and stabilizes theinteraction between HSPA5 and ERN1, leading to suppression ofERN1-induced JNK activation and endoplasmic reticulum stress-induced apoptosis (PubMed:21289099).{ECO:0000250|UniProtKB:Q4QRL3, ECO:0000269|PubMed:21289099,ECO:0000269|PubMed:25762780}. |
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 AMOTL1_CCDC88B |
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 AMOTL1_CCDC88B |
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 |
AMOTL1 | AMOT, NEDD4L, LATS1, LATS2, YAP1, HECW2, NEDD4, WWOX, SHMT2, MOV10, NXF1, SUZ12, FHL3, MAGEA4, WWP2, TEAD4, RAB3IL1, WWTR1, RNF166, NF2, MPP5, CAPZA2, COG6, ALOX5, IFFO1, COBLL1, CDADC1, SCML1, HMBOX1, DDHD1, TLK2, UHRF1BP1L, WWC1, USP9X | CCDC88B | PLEKHA5, SRPK2, CDC73 |
- 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 AMOTL1_CCDC88B |
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 AMOTL1_CCDC88B |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CCDC88B | C0023343 | Leprosy | 1 | CTD_human |