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Fusion gene ID: 30956 |
FusionGeneSummary for REPS2_APOO |
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Fusion gene information | Fusion gene name: REPS2_APOO | Fusion gene ID: 30956 | Hgene | Tgene | Gene symbol | REPS2 | APOO | Gene ID | 9185 | 79135 |
Gene name | RALBP1 associated Eps domain containing 2 | apolipoprotein O | |
Synonyms | POB1 | FAM121B|MIC26|Mic23|My025 | |
Cytomap | Xp22.2 | Xp22.11 | |
Type of gene | protein-coding | protein-coding | |
Description | ralBP1-associated Eps domain-containing protein 2RALBP1-interacting protein 2partner of Ral-binding protein 1partner of RalBP1 | MICOS complex subunit MIC26MICOS complex subunit MIC23brain my025family with sequence similarity 121B | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q8NFH8 | Q9BUR5 | |
Ensembl transtripts involved in fusion gene | ENST00000357277, ENST00000303843, ENST00000380064, ENST00000469714, | ENST00000379226, ENST00000476598, ENST00000379220, | |
Fusion gene scores | * DoF score | 7 X 5 X 8=280 | 5 X 5 X 5=125 |
# samples | 12 | 8 | |
** MAII score | log2(12/280*10)=-1.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/125*10)=-0.643856189774725 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: REPS2 [Title/Abstract] AND APOO [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | ACC | TCGA-OR-A5KV-01A | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
In-frame | ENST00000357277 | ENST00000379226 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
5CDS-intron | ENST00000357277 | ENST00000476598 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
5CDS-intron | ENST00000357277 | ENST00000379220 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
In-frame | ENST00000303843 | ENST00000379226 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
5CDS-intron | ENST00000303843 | ENST00000476598 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
5CDS-intron | ENST00000303843 | ENST00000379220 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
intron-3CDS | ENST00000380064 | ENST00000379226 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
intron-intron | ENST00000380064 | ENST00000476598 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
intron-intron | ENST00000380064 | ENST00000379220 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
intron-3CDS | ENST00000469714 | ENST00000379226 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
intron-intron | ENST00000469714 | ENST00000476598 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
intron-intron | ENST00000469714 | ENST00000379220 | REPS2 | chrX | 16965257 | + | APOO | chrX | 23899069 | - |
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FusionProtFeatures for REPS2_APOO |
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Hgene | Tgene |
REPS2 | APOO |
Involved in growth factor signaling through itsinfluence on the Ral signaling pathway. | Component of the MICOS complex, a large protein complexof the mitochondrial inner membrane that plays crucial roles inthe maintenance of crista junctions, inner membrane architecture,and formation of contact sites to the outer membrane. Plays acrucial role in crista junction formation and mitochondrialfunction (PubMed:25764979). Can promote cardiac lipotoxicity byenhancing mitochondrial respiration and fatty acid metabolism incardiac myoblasts (PubMed:24743151). Promotes cholesterol effluxfrom macrophage cells. Detected in HDL, LDL and VLDL. Secreted bya microsomal triglyceride transfer protein (MTTP)-dependentmechanism, probably as a VLDL-associated protein that issubsequently transferred to HDL (PubMed:16956892).{ECO:0000269|PubMed:16956892, ECO:0000269|PubMed:24743151,ECO:0000269|PubMed:25764979}. |
![]() * 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 |
Hgene | REPS2 | chrX:16965257 | chrX:23899069 | ENST00000303843 | + | 1 | 18 | 3_76 | 91 | 660 | Compositional bias | Note=Ala-rich |
Hgene | REPS2 | chrX:16965257 | chrX:23899069 | ENST00000357277 | + | 1 | 18 | 3_76 | 91 | 661 | Compositional bias | Note=Ala-rich |
Tgene | >APOO | chrX:16965257 | chrX:23899069 | ENST00000379226 | - | 0 | 9 | 108_128 | 3 | 191 | Transmembrane | Helical |
- 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 |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000303843 | + | 1 | 18 | 328_339 | 91 | 660 | Calcium binding | Ontology_term=ECO:0000255 |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000357277 | + | 1 | 18 | 328_339 | 91 | 661 | Calcium binding | Ontology_term=ECO:0000255 |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000303843 | + | 1 | 18 | 601_657 | 91 | 660 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000357277 | + | 1 | 18 | 601_657 | 91 | 661 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000303843 | + | 1 | 18 | 477_524 | 91 | 660 | Compositional bias | Note=Pro-rich |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000357277 | + | 1 | 18 | 477_524 | 91 | 661 | Compositional bias | Note=Pro-rich |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000303843 | + | 1 | 18 | 282_373 | 91 | 660 | Domain | EH 2 |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000303843 | + | 1 | 18 | 315_350 | 91 | 660 | Domain | EF-hand |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000303843 | + | 1 | 18 | 34_147 | 91 | 660 | Domain | EH 1 |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000357277 | + | 1 | 18 | 282_373 | 91 | 661 | Domain | EH 2 |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000357277 | + | 1 | 18 | 315_350 | 91 | 661 | Domain | EF-hand |
Hgene | >REPS2 | chrX:16965257 | chrX:23899069 | ENST00000357277 | + | 1 | 18 | 34_147 | 91 | 661 | Domain | EH 1 |
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FusionGeneSequence for REPS2_APOO |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_REPS2_ENST00000357277_chrX_16965257_+_APOO_ENST00000379226_chrX_23899069_-_91aa MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPVADLFRASQLPAETLH >In-frame_REPS2_ENST00000303843_chrX_16965257_+_APOO_ENST00000379226_chrX_23899069_-_91aa MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPVADLFRASQLPAETLH |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_REPS2_ENST00000357277_chrX_16965257_+_APOO_ENST00000379226_chrX_23899069_-_273nt ATGGAGGCGGCAGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCAGCGGCGGGCGGGGGCTGTGGCTCCGGGCCGCCGCCGCTGCTGCTG AGCGAGGGCGAGCAGCAGTGCTACTCCGAGCTCTTCGCGCGCTGTGCCGGCGCCGCGGGCGGGGGCCCCGGGTCTGGGCCCCCCGAGGCC GCCAGAGTCGCCCCCGGCACGGCCACTGCGGCCGCCGGCCCCGTGGCTGACCTGTTTCGGGCATCGCAGCTGCCCGCCGAGACGCTGCAC >In-frame_REPS2_ENST00000303843_chrX_16965257_+_APOO_ENST00000379226_chrX_23899069_-_273nt ATGGAGGCGGCAGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCAGCGGCGGGCGGGGGCTGTGGCTCCGGGCCGCCGCCGCTGCTGCTG AGCGAGGGCGAGCAGCAGTGCTACTCCGAGCTCTTCGCGCGCTGTGCCGGCGCCGCGGGCGGGGGCCCCGGGTCTGGGCCCCCCGAGGCC GCCAGAGTCGCCCCCGGCACGGCCACTGCGGCCGCCGGCCCCGTGGCTGACCTGTTTCGGGCATCGCAGCTGCCCGCCGAGACGCTGCAC |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_REPS2_ENST00000357277_chrX_16965257_+_APOO_ENST00000379226_chrX_23899069_-_1321nt CCGGGAGGAAGCGGCCGCGCGGCAGCTGCGGGGCGTGGGGGTGGTGGTGGCGGCGGCGGTGGTGGCGGCGGCGGCGGCGGCGGCAGCTGA GGCCGAGGAGGCGGTGGCTGTGGCGGACGCAGCAGCACCCCAGCTAGGGACAGGGCTCCGCCGCGCCCCCTTGCTGGCCCCATGGAGGCG GCAGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCAGCGGCGGGCGGGGGCTGTGGCTCCGGGCCGCCGCCGCTGCTGCTGAGCGAGGGC GAGCAGCAGTGCTACTCCGAGCTCTTCGCGCGCTGTGCCGGCGCCGCGGGCGGGGGCCCCGGGTCTGGGCCCCCCGAGGCCGCCAGAGTC GCCCCCGGCACGGCCACTGCGGCCGCCGGCCCCGTGGCTGACCTGTTTCGGGCATCGCAGCTGCCCGCCGAGACGCTGCACCAGGTAATT CAGAGGTCCGTGGGGCCAGCCAGCCTGAGCTTGCTCACCTTCAAAGTCTATGCAGCACCAAAAAAGGACTCACCTCCCAAAAATTCCGTG AAGGTTGATGAGCTTTCACTCTACTCAGTTCCTGAGGGTCAATCGAAGTATGTGGAGGAGGCAAGGAGCCAGCTTGAAGAAAGCATCTCA CAGCTCCGACACTATTGCGAGCCATACACAACCTGGTGTCAGGAAACGTACTCCCAAACTAAGCCCAAGATGCAAAGTTTGGTTCAATGG GGGTTAGACAGCTATGACTATCTCCAAAATGCACCTCCTGGATTTTTTCCGAGACTTGGTGTTATTGGTTTTGCTGGCCTTATTGGACTC CTTTTGGCTAGAGGTTCAAAAATAAAGAAGCTAGTGTATCCGCCTGGTTTCATGGGATTAGCTGCCTCCCTCTATTATCCACAACAAGCC ATCGTGTTTGCCCAGGTCAGTGGGGAGAGATTATATGACTGGGGTTTACGAGGATATATAGTCATAGAAGATTTGTGGAAGGAGAACTTT CAAAAGCCAGGAAATGTGAAGAATTCACCTGGAACTAAGTAGAAAACTCCATGCTCTGCCATCTTAATCAGTTATAGGTAAACATTGGAA ACTCCATAGAATAAATCAGTATTTCTACAGAAAAATGGCATAGAAGTCAGTATTGAATGTATTAAATTGGCTTTCTTCTTCAGGAAAAAC TAGACCAGACCTCTGTTATCTTCTGTGAAATCATCCTACAAGCAAACTAACCTGGAATCCCTTCACCTAGAGATAATGTACAAGCCTTAG >In-frame_REPS2_ENST00000303843_chrX_16965257_+_APOO_ENST00000379226_chrX_23899069_-_1150nt ATGGAGGCGGCAGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCAGCGGCGGGCGGGGGCTGTGGCTCCGGGCCGCCGCCGCTGCTGCTG AGCGAGGGCGAGCAGCAGTGCTACTCCGAGCTCTTCGCGCGCTGTGCCGGCGCCGCGGGCGGGGGCCCCGGGTCTGGGCCCCCCGAGGCC GCCAGAGTCGCCCCCGGCACGGCCACTGCGGCCGCCGGCCCCGTGGCTGACCTGTTTCGGGCATCGCAGCTGCCCGCCGAGACGCTGCAC CAGGTAATTCAGAGGTCCGTGGGGCCAGCCAGCCTGAGCTTGCTCACCTTCAAAGTCTATGCAGCACCAAAAAAGGACTCACCTCCCAAA AATTCCGTGAAGGTTGATGAGCTTTCACTCTACTCAGTTCCTGAGGGTCAATCGAAGTATGTGGAGGAGGCAAGGAGCCAGCTTGAAGAA AGCATCTCACAGCTCCGACACTATTGCGAGCCATACACAACCTGGTGTCAGGAAACGTACTCCCAAACTAAGCCCAAGATGCAAAGTTTG GTTCAATGGGGGTTAGACAGCTATGACTATCTCCAAAATGCACCTCCTGGATTTTTTCCGAGACTTGGTGTTATTGGTTTTGCTGGCCTT ATTGGACTCCTTTTGGCTAGAGGTTCAAAAATAAAGAAGCTAGTGTATCCGCCTGGTTTCATGGGATTAGCTGCCTCCCTCTATTATCCA CAACAAGCCATCGTGTTTGCCCAGGTCAGTGGGGAGAGATTATATGACTGGGGTTTACGAGGATATATAGTCATAGAAGATTTGTGGAAG GAGAACTTTCAAAAGCCAGGAAATGTGAAGAATTCACCTGGAACTAAGTAGAAAACTCCATGCTCTGCCATCTTAATCAGTTATAGGTAA ACATTGGAAACTCCATAGAATAAATCAGTATTTCTACAGAAAAATGGCATAGAAGTCAGTATTGAATGTATTAAATTGGCTTTCTTCTTC AGGAAAAACTAGACCAGACCTCTGTTATCTTCTGTGAAATCATCCTACAAGCAAACTAACCTGGAATCCCTTCACCTAGAGATAATGTAC |
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FusionGenePPI for REPS2_APOO |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
REPS2 | RALBP1, GRB2, EPS15, EPN1, AR, AMPH, AP2A1, CDK1, GNL2, CSNK2A2, CHORDC1, PRMT7, UGGT1, MYO6, REPS1, AP2M1 | APOO | CDK2, TIMMDC1, C19orf70, APOOL |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | REPS2 | chrX:16965257 | chrX:23899069 | ENST00000303843 | + | 1 | 18 | 561_660 | 91 | 660 | ASAP1 |
Hgene | REPS2 | chrX:16965257 | chrX:23899069 | ENST00000357277 | + | 1 | 18 | 561_660 | 91 | 661 | ASAP1 |
Hgene | REPS2 | chrX:16965257 | chrX:23899069 | ENST00000303843 | + | 1 | 18 | 514_660 | 91 | 660 | RALBP1 |
Hgene | REPS2 | chrX:16965257 | chrX:23899069 | ENST00000357277 | + | 1 | 18 | 514_660 | 91 | 661 | RALBP1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for REPS2_APOO |
![]() (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 REPS2_APOO |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | REPS2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |