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Fusion gene ID: 678 |
FusionGeneSummary for ADAM12_ACIN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ADAM12_ACIN1 | Fusion gene ID: 678 | Hgene | Tgene | Gene symbol | ADAM12 | ACIN1 | Gene ID | 8038 | 22985 |
| Gene name | ADAM metallopeptidase domain 12 | apoptotic chromatin condensation inducer 1 | |
| Synonyms | ADAM12-OT1|CAR10|MCMP|MCMPMltna|MLTN|MLTNA | ACINUS|ACN|fSAP152 | |
| Cytomap | 10q26.2 | 14q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | disintegrin and metalloproteinase domain-containing protein 12meltrin-alphametalloprotease-disintegrin 12 transmembrane | apoptotic chromatin condensation inducer in the nucleusfunctional spliceosome-associated protein 152 | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | O43184 | Q9UKV3 | |
| Ensembl transtripts involved in fusion gene | ENST00000368679, ENST00000368676, ENST00000467145, | ENST00000557515, ENST00000338631, ENST00000357481, ENST00000605057, ENST00000457657, ENST00000262710, ENST00000397341, ENST00000555053, ENST00000555352, | |
| Fusion gene scores | * DoF score | 13 X 14 X 1=182 | 7 X 7 X 3=147 |
| # samples | 15 | 8 | |
| ** MAII score | log2(15/182*10)=-0.278975949702815 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/147*10)=-0.877744249949002 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ADAM12 [Title/Abstract] AND ACIN1 [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 |
| Tgene | ACIN1 | GO:0030263 | apoptotic chromosome condensation | 10490026 |
| 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 |
| ChiTaRS3.1 | BI049580 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + | ||
| ChiTaRS3.1 | BI049573 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| * 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-intron | ENST00000368679 | ENST00000557515 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368679 | ENST00000338631 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368679 | ENST00000357481 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368679 | ENST00000605057 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368679 | ENST00000457657 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368679 | ENST00000262710 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368679 | ENST00000397341 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368679 | ENST00000555053 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368679 | ENST00000555352 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368676 | ENST00000557515 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368676 | ENST00000338631 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368676 | ENST00000357481 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368676 | ENST00000605057 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368676 | ENST00000457657 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368676 | ENST00000262710 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368676 | ENST00000397341 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368676 | ENST00000555053 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000368676 | ENST00000555352 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000467145 | ENST00000557515 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000467145 | ENST00000338631 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000467145 | ENST00000357481 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000467145 | ENST00000605057 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000467145 | ENST00000457657 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000467145 | ENST00000262710 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000467145 | ENST00000397341 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000467145 | ENST00000555053 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
| intron-intron | ENST00000467145 | ENST00000555352 | ADAM12 | chr10 | 127804180 | + | ACIN1 | chr14 | 23549585 | + |
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FusionProtFeatures for ADAM12_ACIN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ADAM12 | ACIN1 |
| Involved in skeletal muscle regeneration, specificallyat the onset of cell fusion. Also involved in macrophage-derivedgiant cells (MGC) and osteoclast formation from mononuclearprecursors (By similarity). {ECO:0000250}. | Auxiliary component of the splicing-dependentmultiprotein exon junction complex (EJC) deposited at splicejunction on mRNAs. The EJC is a dynamic structure consisting ofcore proteins and several peripheral nuclear and cytoplasmicassociated factors that join the complex only transiently eitherduring EJC assembly or during subsequent mRNA metabolism.Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJCprior to or during the splicing process and to regulate specificexcision of introns in specific transcription subsets; ACIN1confers RNA-binding to the complex. The ASAP complex can inhibitRNA processing during in vitro splicing reactions. The ASAPcomplex promotes apoptosis and is disassembled after induction ofapoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X(and probably other apoptotic genes); specifically inhibitsformation of proapoptotic isoforms such as Bcl-X(S); the activityis different from the established EJC assembly and function.Induces apoptotic chromatin condensation after activation byCASP3. Regulates cyclin A1, but not cyclin A2, expression inleukemia cells. {ECO:0000269|PubMed:10490026,ECO:0000269|PubMed:12665594, ECO:0000269|PubMed:18559500,ECO:0000269|PubMed:22203037, ECO:0000269|PubMed:22388736}. |
| 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 ADAM12_ACIN1 |
| 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 ADAM12_ACIN1 |
| 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 |
| - 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 ADAM12_ACIN1 |
| 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 ADAM12_ACIN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ADAM12 | C0036341 | Schizophrenia | 1 | PSYGENET |
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