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Fusion gene ID: 1521 |
FusionGeneSummary for ALG11_JPH3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ALG11_JPH3 | Fusion gene ID: 1521 | Hgene | Tgene | Gene symbol | ALG11 | JPH3 | Gene ID | 440138 | 57338 |
| Gene name | ALG11, alpha-1,2-mannosyltransferase | junctophilin 3 | |
| Synonyms | CDG1P|GT8 | CAGL237|HDL2|JP-3|JP3|TNRC22 | |
| Cytomap | 13q14.3 | 16q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferaseGDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferaseasparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homologasparagine-linked glycosylation protein 11 homologgly | junctophilin-3junctophilin type 3trinucleotide repeat containing 22 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q2TAA5 | Q8WXH2 | |
| Ensembl transtripts involved in fusion gene | ENST00000523764, ENST00000521508, ENST00000519151, | ENST00000284262, ENST00000563609, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 5 X 4 X 5=100 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ALG11 [Title/Abstract] AND JPH3 [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 | PRAD | TCGA-EJ-A65B-01A | ALG11 | chr13 | 52599073 | + | JPH3 | chr16 | 87730186 | + |
| * 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-3CDS | ENST00000523764 | ENST00000284262 | ALG11 | chr13 | 52599073 | + | JPH3 | chr16 | 87730186 | + |
| intron-3UTR | ENST00000523764 | ENST00000563609 | ALG11 | chr13 | 52599073 | + | JPH3 | chr16 | 87730186 | + |
| In-frame | ENST00000521508 | ENST00000284262 | ALG11 | chr13 | 52599073 | + | JPH3 | chr16 | 87730186 | + |
| 5CDS-3UTR | ENST00000521508 | ENST00000563609 | ALG11 | chr13 | 52599073 | + | JPH3 | chr16 | 87730186 | + |
| 3UTR-3CDS | ENST00000519151 | ENST00000284262 | ALG11 | chr13 | 52599073 | + | JPH3 | chr16 | 87730186 | + |
| 3UTR-3UTR | ENST00000519151 | ENST00000563609 | ALG11 | chr13 | 52599073 | + | JPH3 | chr16 | 87730186 | + |
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FusionProtFeatures for ALG11_JPH3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ALG11 | JPH3 |
| Mannosyltransferase involved in the last steps of thesynthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on thecytoplasmic face of the endoplasmic reticulum. Catalyzes theaddition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain. {ECO:0000269|PubMed:20080937}. | Junctophilins contribute to the formation of junctionalmembrane complexes (JMCs) which link the plasma membrane with theendoplasmic or sarcoplasmic reticulum in excitable cells. Providesa structural foundation for functional cross-talk between the cellsurface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neuronsinvolved in motor coordination and memory. |
| 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 ALG11_JPH3 |
| 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. |
| >In-frame_ALG11_ENST00000521508_chr13_52599073_+_JPH3_ENST00000284262_chr16_87730186_+_429aa MAAGERSWCLCKLLRFFYSLFFPGLIVCGTLCVCLVIVLWGIRLLLQRKKKLVSTSKNGKNQMVIAFFHPYCNAGGGGERVLWCALRALQ KKYPEAVYVVYTGDVNVNGQQILEGAFRRFNIRLIHPVQFVFLRKRYLVEDSLYPHFTLLGQSLGSIFLGWEALMQCVPDVYIDSMGYAF TLPLFKYIGGCQVGSYVHYPTISTDMLSVVKNQNIGFNNAAFITRNPFLSKVKLIYYYLFAFIYGLVGSCSDVVMVNSSWTLNHILSLWK VGNCTNIVYPPCDVQTFLDIPLHEKKMTPGHLLVSVGQFRPEKNHPLQIRAFAKLLNKKMVESPPSLKLVLIGGCRNKDDELRVNQLRRL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ALG11_ENST00000521508_chr13_52599073_+_JPH3_ENST00000284262_chr16_87730186_+_1288nt ATGGCGGCCGGCGAAAGGAGCTGGTGCCTGTGCAAGTTGTTGAGGTTTTTTTATTCATTATTCTTCCCTGGGCTCATTGTATGTGGAACT TTATGTGTGTGTTTGGTCATTGTCCTTTGGGGAATCAGACTGCTGCTACAGAGAAAGAAAAAATTAGTGTCAACTAGCAAAAATGGGAAA AATCAAATGGTGATTGCATTTTTTCATCCATACTGCAATGCTGGTGGAGGAGGAGAAAGAGTTTTATGGTGTGCTTTAAGAGCCCTGCAG AAAAAGTATCCTGAAGCAGTTTATGTTGTTTATACCGGCGATGTTAATGTCAACGGTCAACAGATACTAGAAGGTGCTTTCAGAAGATTT AACATCAGATTAATTCACCCAGTGCAGTTTGTTTTTTTAAGGAAACGCTATCTTGTGGAAGATTCACTGTATCCTCACTTCACACTGCTG GGCCAAAGTCTAGGATCCATTTTTCTTGGCTGGGAAGCTCTAATGCAGTGTGTTCCTGATGTTTACATTGATTCAATGGGATACGCTTTT ACGCTTCCTCTGTTTAAGTATATAGGGGGTTGCCAAGTTGGAAGCTATGTTCATTATCCTACTATCAGCACCGACATGCTCTCTGTAGTG AAGAATCAAAATATTGGATTTAATAATGCAGCCTTCATTACCAGGAATCCTTTTCTCAGCAAAGTAAAGCTCATCTACTACTATTTATTT GCTTTTATTTATGGACTTGTTGGTTCTTGCAGTGATGTAGTCATGGTCAATTCTTCTTGGACACTAAACCATATTCTCTCACTATGGAAA GTTGGGAATTGCACTAACATTGTTTATCCACCTTGTGATGTGCAGACATTTCTGGACATTCCCTTACATGAGAAAAAGATGACCCCAGGA CATTTGCTGGTTTCTGTTGGCCAGTTTAGGCCGGAAAAGAATCATCCATTGCAGATCAGAGCCTTTGCTAAATTGCTGAATAAGAAGATG GTTGAGTCACCTCCTTCGCTTAAACTTGTCCTCATTGGAGGTTGTCGTAACAAAGATGATGAACTTAGGGTAAACCAACTGAGAAGGCTG TCTGAGGATTTAGGAGTTCAAGAATATGTGGAATTTAAAATAAACATTCCATTTGATGAATTAAAGAATTATTTGTCTGAAGCAACAATT GGTCTGCATACCATGTGGAACGAGCATTTTGGGATTGGGCTCAGCGCCTATCCTGGTGGTCATGGTGATCTTGCTCAACATCGGAGTCGC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ALG11_ENST00000521508_chr13_52599073_+_JPH3_ENST00000284262_chr16_87730186_+_2789nt GGAAGATGGCGGCCGGCGAAAGGAGCTGGTGCCTGTGCAAGTTGTTGAGGTTTTTTTATTCATTATTCTTCCCTGGGCTCATTGTATGTG GAACTTTATGTGTGTGTTTGGTCATTGTCCTTTGGGGAATCAGACTGCTGCTACAGAGAAAGAAAAAATTAGTGTCAACTAGCAAAAATG GGAAAAATCAAATGGTGATTGCATTTTTTCATCCATACTGCAATGCTGGTGGAGGAGGAGAAAGAGTTTTATGGTGTGCTTTAAGAGCCC TGCAGAAAAAGTATCCTGAAGCAGTTTATGTTGTTTATACCGGCGATGTTAATGTCAACGGTCAACAGATACTAGAAGGTGCTTTCAGAA GATTTAACATCAGATTAATTCACCCAGTGCAGTTTGTTTTTTTAAGGAAACGCTATCTTGTGGAAGATTCACTGTATCCTCACTTCACAC TGCTGGGCCAAAGTCTAGGATCCATTTTTCTTGGCTGGGAAGCTCTAATGCAGTGTGTTCCTGATGTTTACATTGATTCAATGGGATACG CTTTTACGCTTCCTCTGTTTAAGTATATAGGGGGTTGCCAAGTTGGAAGCTATGTTCATTATCCTACTATCAGCACCGACATGCTCTCTG TAGTGAAGAATCAAAATATTGGATTTAATAATGCAGCCTTCATTACCAGGAATCCTTTTCTCAGCAAAGTAAAGCTCATCTACTACTATT TATTTGCTTTTATTTATGGACTTGTTGGTTCTTGCAGTGATGTAGTCATGGTCAATTCTTCTTGGACACTAAACCATATTCTCTCACTAT GGAAAGTTGGGAATTGCACTAACATTGTTTATCCACCTTGTGATGTGCAGACATTTCTGGACATTCCCTTACATGAGAAAAAGATGACCC CAGGACATTTGCTGGTTTCTGTTGGCCAGTTTAGGCCGGAAAAGAATCATCCATTGCAGATCAGAGCCTTTGCTAAATTGCTGAATAAGA AGATGGTTGAGTCACCTCCTTCGCTTAAACTTGTCCTCATTGGAGGTTGTCGTAACAAAGATGATGAACTTAGGGTAAACCAACTGAGAA GGCTGTCTGAGGATTTAGGAGTTCAAGAATATGTGGAATTTAAAATAAACATTCCATTTGATGAATTAAAGAATTATTTGTCTGAAGCAA CAATTGGTCTGCATACCATGTGGAACGAGCATTTTGGGATTGGGCTCAGCGCCTATCCTGGTGGTCATGGTGATCTTGCTCAACATCGGA GTCGCCATTCTGTTTATTAACTTTTTCATCTGATGAGATGTCGCGGTAGCAAAAATAGAGAAAGGGTAGAAAAAAGGGACATTAAAATTA AAAGCAAAACCACAAGAAGGGAAAGACCGCAACTCGGACAGCCCAGCGACTTCCAAGTCCTCTCACAGAAGAACCACACGATTGGGTATC ACTCACAGTTTGCCTTTTTTTCTGGGTAATGTTTTTTGGATTTTAGCCAAAATTCTTTGCTTGTATAACACTCTGCTGTGTGGCATGGCA GAAGGAGGCCAGCACGCAGCCCCTCCAGCTCCACGTGGAGACAGAAGGGATCCCGGCACATCAGTGGTAACAGCGGACGTTGTCCTCGTG GTCACACGTCCCGTCTTGGGTGTGGATGGAGGGCAGCCCGGGGCAGAGCCTCAGCCCCGCGGCCCCTGAGTGGCAGGGCTGACTCCCGTC GACACGAGCTTAGAAAGTGGATTCACTGCTTTCTCTGTCTAGAACAGACGGGTGACAAGTATGGGCAGGAGGCATGGGGCAGGGTGGCCC ACCCCAGTGGGCAGTAGCCTGGCCTTTTTCTGTGTGAGATCTGTGCTGCACACCTGAGGGAGGGGGAGGGATCGGCCACCTCCTCCCTGT GAGACGGATGCAGGTCCTTCCCTCTTCTCGGCACTGCCCCCGGCCTTCCATGAGAAGCCGACTCCCCACACCGAGTTTTAAAGCAAAGCC CTTTTCTTCTGCTGCCCACTCACTGTGGGTCCCATTCGGCTGTTTCCCCCACCAGACCCCAGGGAAGCCGGGGCCCACTCCGATCCGCCT GGGCTCAGCTAAGCACGGAAGCCAAGGGGGCTGTGCCGTGGAGCTGGGCTCGCGCCGGGGCTCTGGGTGTGTGCGCTTGGCGTGCAGGGT GGACGCGTGGGGTTCCGTGTCCCCAGCAGTGAGGGCCCTAGAGGACGCCTTCTCCCATGGTTACTGATCTCCACGGGTTTTCACATCTCT GTACTGTGCCTGCCTCAACTTCCCCTAACAGATATGCATATTCCTTCCAGATGCCTCAGTGCTACACCACAGTGGGCCTGGTCCCAGGAC AGGAATGCGGTTCAAACCCAGTGGCTTGAAACTTCCTGAGAAACTGTAGCATATCCAGCCCCCTAAAATGTACAATGTAACTTGTTCAGT CCAACAAAAACAGGTTCCTTATGTTTCTGCCTTCTCCACCAGGGTCGCTCCATCACCCAAACAAAAGAACAAGGTTTGCCAGGATGTCCG AGTGCCCCCTGGCCCTGGCTCTCGTGTGCATGGACGTGCCTGAGGGGTCCGGGCACGGCCATACGCAGGACCCCTGTGCCCGGGGAGGCG CTGCAGGGATTCCCCATCCGGTCGTCTTGGGGCCAGCCCGTCTTATGGACTCTGCCTTGCTTTGCTTATGTTTAGCTGTTTCTCTGCTAC |
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FusionGenePPI for ALG11_JPH3 |
| 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 |
| ALG11 | TSPAN5, HAUS7, SMPD1, TREML2, FAM63B, RAET1E, TMEM213, PVR | JPH3 | STK24, BGN, PPP1CA |
| - 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 ALG11_JPH3 |
| 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 ALG11_JPH3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ALG11 | C3150913 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | JPH3 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
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