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Fusion gene ID: 1576 |
FusionGeneSummary for ALS2CR12_LRPPRC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ALS2CR12_LRPPRC | Fusion gene ID: 1576 | Hgene | Tgene | Gene symbol | ALS2CR12 | LRPPRC | Gene ID | 130540 | 10128 |
| Gene name | amyotrophic lateral sclerosis 2 chromosome region 12 | leucine rich pentatricopeptide repeat containing | |
| Synonyms | - | CLONE-23970|GP130|LRP130|LSFC | |
| Cytomap | 2q33.1 | 2p21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 proteinamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12amyotrophic lateral sclerosis 2 chromosome region candidate 12 | leucine-rich PPR motif-containing protein, mitochondrial130 kDa leucine-rich proteinLRP 130leucine-rich PPR-motif containingmitochondrial leucine-rich PPR motif-containing protein | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q96Q35 | P42704 | |
| Ensembl transtripts involved in fusion gene | ENST00000286190, ENST00000405148, ENST00000392257, ENST00000439709, ENST00000448967, | ENST00000260665, ENST00000409946, ENST00000409659, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 6 X 1=36 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/36*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ALS2CR12 [Title/Abstract] AND LRPPRC [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 |
| ChiTaRS3.1 | BF735164 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| * 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-3UTR | ENST00000286190 | ENST00000260665 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-intron | ENST00000286190 | ENST00000409946 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-intron | ENST00000286190 | ENST00000409659 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-3UTR | ENST00000405148 | ENST00000260665 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-intron | ENST00000405148 | ENST00000409946 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-intron | ENST00000405148 | ENST00000409659 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-3UTR | ENST00000392257 | ENST00000260665 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-intron | ENST00000392257 | ENST00000409946 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-intron | ENST00000392257 | ENST00000409659 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-3UTR | ENST00000439709 | ENST00000260665 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-intron | ENST00000439709 | ENST00000409946 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-intron | ENST00000439709 | ENST00000409659 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-3UTR | ENST00000448967 | ENST00000260665 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-intron | ENST00000448967 | ENST00000409946 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
| intron-intron | ENST00000448967 | ENST00000409659 | ALS2CR12 | chr2 | 202156301 | - | LRPPRC | chr2 | 44115457 | - |
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FusionProtFeatures for ALS2CR12_LRPPRC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ALS2CR12 | LRPPRC |
| May play a role in RNA metabolism in both nuclei andmitochondria. In the nucleus binds to HNRPA1-associated poly(A)mRNAs and is part of nmRNP complexes at late stages of mRNAmaturation which are possibly associated with nuclear mRNA export.May bind mature mRNA in the nucleus outer membrane. Inmitochondria binds to poly(A) mRNA. Plays a role in translation orstability of mitochondrially encoded cytochrome c oxidase (COX)subunits. May be involved in transcription regulation. Cooperateswith PPARGC1A to regulate certain mitochondrially encoded genesand gluconeogenic genes and may regulate docking of PPARGC1A totranscription factors. Seems to be involved in the transcriptionregulation of the multidrug-related genes MDR1 and MVP. Part of anuclear factor that binds to the invMED1 element of MDR1 and MVPgene promoters. Binds single-stranded DNA (By similarity).{ECO:0000250, ECO:0000269|PubMed:11585913,ECO:0000269|PubMed:12832482, ECO:0000269|PubMed:15081402,ECO:0000269|PubMed:15139850, ECO:0000269|PubMed:15272088,ECO:0000269|PubMed:17050673}. |
| 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 ALS2CR12_LRPPRC |
| 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 ALS2CR12_LRPPRC |
| 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 ALS2CR12_LRPPRC |
| 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 ALS2CR12_LRPPRC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | LRPPRC | C1857355 | Leigh syndrome , French Canadian type | 1 | CTD_human;ORPHANET;UNIPROT |
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