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Fusion gene ID: 2251 |
FusionGeneSummary for APPL1_ABHD6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: APPL1_ABHD6 | Fusion gene ID: 2251 | Hgene | Tgene | Gene symbol | APPL1 | ABHD6 | Gene ID | 26060 | 57406 |
| Gene name | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | abhydrolase domain containing 6 | |
| Synonyms | APPL|DIP13alpha|MODY14 | - | |
| Cytomap | 3p14.3 | 3p14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DCC-interacting protein 13-alphaAKT2 interactoradapter protein containing PH domain, PTB domain and leucine zipper motif 1adaptor protein containing pH domain, PTB domain and leucine zipper motif 1adaptor protein, phosphotyrosine interaction, PH domai | monoacylglycerol lipase ABHD62-arachidonoylglycerol hydrolaseabhydrolase domain-containing protein 6lipase protein | |
| Modification date | 20180528 | 20180523 | |
| UniProtAcc | Q9UKG1 | Q9BV23 | |
| Ensembl transtripts involved in fusion gene | ENST00000288266, | ENST00000478253, ENST00000295962, ENST00000480457, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 5 X 4 X 4=80 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: APPL1 [Title/Abstract] AND ABHD6 [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 |
| Hgene | APPL1 | GO:0008283 | cell proliferation | 15016378 |
| Tgene | ABHD6 | GO:0046464 | acylglycerol catabolic process | 22969151 |
| 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 | OV | TCGA-30-1866-01A | APPL1 | chr3 | 57294802 | + | ABHD6 | chr3 | 58279316 | + |
| * 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 |
| Frame-shift | ENST00000288266 | ENST00000478253 | APPL1 | chr3 | 57294802 | + | ABHD6 | chr3 | 58279316 | + |
| In-frame | ENST00000288266 | ENST00000295962 | APPL1 | chr3 | 57294802 | + | ABHD6 | chr3 | 58279316 | + |
| 5CDS-intron | ENST00000288266 | ENST00000480457 | APPL1 | chr3 | 57294802 | + | ABHD6 | chr3 | 58279316 | + |
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FusionProtFeatures for APPL1_ABHD6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| APPL1 | ABHD6 |
| Adapter protein that interacts with proteins involved indifferent cellular signaling pathways. Required for the regulationof cell proliferation in response to extracellular signals from anearly endosomal compartment. Links Rab5 to nuclear signaltransduction. Involved in the regulation of the insulin receptorsignaling pathway. {ECO:0000269|PubMed:10490823,ECO:0000269|PubMed:15016378, ECO:0000269|PubMed:26073777}. | Lipase that preferentially hydrolysis medium-chainsaturated monoacylglycerols including 2-arachidonoylglycerol(PubMed:22969151). Through 2-arachidonoylglycerol degradation mayregulate endocannabinoid signaling pathways. May also have alysophosphatidyl lipase activity with a preference forlysophosphatidylglycerol among other lysophospholipids (Bysimilarity). {ECO:0000250|UniProtKB:Q8R2Y0,ECO:0000269|PubMed:22969151}. |
| 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 APPL1_ABHD6 |
| 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_APPL1_ENST00000288266_chr3_57294802_+_ABHD6_ENST00000295962_chr3_58279316_+_673aa MPGIDKLPIEETLEDSPQTRSLLGVFEEDATAISNYMNQLYQAMHRIYDAQNELSAATHLTSKLLKEYEKQRFPLGGDDEVMSSTLQQFS KVIDELSSCHAVLSTQLADAMMFPITQFKERDLKEILTLKEVFQIASNDHDAAINRYSRLSKKRENDKVKYEVTEDVYTSRKKQHQTMMH YFCALNTLQYKKKIALLEPLLGYMQAQISFFKMGSENLNEQLEEFLANIGTSVQNVRREMDSDIETMQQTIEDLEVASDPLYVPDPDPTK FPVNRNLTRKAGYLNARNKTGLVSSTWDRQFYFTQGGNLMSQARGDVAGGLAMDIDNCSVMAVDCEDRRYCFQITSFDGKKSSILQAESK KDHEEWICTINNISKQIYLSENPEETAARVNQSALEAVTPSPSFQQRHESLRPAAGQSRPPTARTSSSGSLGSESTNLAALSLDSLVAPD TPIQFDIISPVCEDQPGQAKAFGQGGRRTNPFGESGGSTKSETEDSILHQLFIVRFLGSMEVKSDDHPDVVYETMRQILAARAIHNIFRM TESHLLVTCDCLKLIDPQTQVTRLTFPLPCVVLYATHQENKRLFGFVLRTSSGRSESNLSSVCYIFESNNEGEKVLDVSGADMLAKSIAN |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_APPL1_ENST00000288266_chr3_57294802_+_ABHD6_ENST00000295962_chr3_58279316_+_2019nt ATGCCGGGGATCGACAAGCTGCCCATCGAGGAGACGCTGGAGGACAGCCCGCAGACAAGGTCTTTACTAGGTGTATTTGAAGAAGATGCC ACAGCTATTTCCAACTATATGAACCAGTTGTATCAAGCTATGCATCGGATTTATGATGCACAGAATGAATTAAGTGCAGCAACACACCTG ACCTCAAAACTTTTAAAAGAATATGAAAAACAGCGTTTTCCATTGGGAGGTGATGATGAAGTTATGAGCTCTACATTGCAACAGTTTTCA AAAGTTATAGATGAGCTTAGCTCTTGTCATGCAGTGCTTTCAACTCAACTTGCTGATGCCATGATGTTCCCCATTACCCAGTTTAAAGAA AGAGATCTGAAAGAAATACTAACATTAAAGGAAGTATTTCAGATTGCAAGTAATGATCATGATGCTGCGATTAATAGATATAGCCGTTTA TCAAAAAAAAGAGAAAATGACAAGGTGAAGTATGAAGTAACAGAAGATGTGTACACATCCAGAAAGAAACAACACCAGACCATGATGCAT TATTTTTGTGCATTAAATACTCTTCAGTACAAGAAGAAAATAGCATTGTTAGAACCTCTACTTGGGTACATGCAAGCTCAGATAAGTTTC TTTAAGATGGGTTCTGAAAATCTTAATGAACAACTGGAAGAATTTTTAGCTAATATTGGAACAAGCGTTCAGAATGTTCGCAGGGAAATG GACAGTGATATAGAGACCATGCAACAGACAATAGAGGATTTGGAAGTAGCCAGTGATCCCTTATATGTGCCTGACCCAGACCCCACCAAA TTTCCTGTTAATCGAAATTTAACCCGAAAGGCTGGATACCTTAATGCTAGGAATAAAACAGGCTTGGTGTCATCTACCTGGGACAGACAG TTTTACTTCACGCAGGGTGGAAATTTAATGAGTCAGGCCCGTGGGGATGTAGCAGGAGGCCTGGCCATGGACATAGACAACTGTTCAGTG ATGGCTGTGGACTGTGAAGACAGACGATATTGTTTTCAGATCACCTCTTTCGATGGAAAAAAATCTTCAATTTTGCAAGCAGAGAGTAAA AAAGATCATGAAGAGTGGATCTGTACAATAAACAACATATCTAAACAAATATACTTAAGTGAAAATCCAGAGGAAACTGCTGCACGAGTA AATCAATCAGCTCTGGAAGCTGTCACTCCTTCCCCATCTTTCCAGCAGAGGCACGAGAGCCTGCGGCCAGCAGCAGGACAATCTCGGCCA CCGACAGCTCGAACCAGCAGTTCAGGATCCTTAGGATCTGAGTCTACAAATTTGGCTGCCCTCTCTCTAGATTCTCTTGTTGCCCCAGAC ACCCCAATACAGTTTGACATAATTTCTCCTGTGTGTGAAGATCAGCCTGGCCAGGCAAAAGCCTTTGGCCAGGGAGGCAGGCGTACAAAT CCATTTGGAGAATCTGGAGGAAGTACAAAATCTGAAACTGAAGATTCTATTCTTCATCAGTTATTTATTGTCCGATTCCTTGGTTCAATG GAGGTGAAATCAGATGACCATCCAGATGTTGTTTATGAAACTATGCGCCAAATCTTAGCTGCCCGGGCCATCCATAACATCTTTCGTATG ACAGAATCGCATTTATTAGTCACTTGTGACTGTTTAAAGTTAATTGATCCACAGACACAAGTTACAAGGCTCACGTTTCCATTACCTTGT GTAGTTTTGTATGCTACACACCAGGAAAATAAGCGCCTTTTTGGATTTGTTCTTCGGACATCAAGCGGGAGAAGTGAAAGTAATCTGTCA TCAGTCTGCTATATATTTGAGTCAAACAATGAGGGGGAAAAGGTGCTGGATGTGTCTGGGGCAGACATGTTGGCCAAGTCAATTGCCAAC TGCCAGGTGGAGCTTCTGGAAAACTGTGGGCACTCAGTAGTGATGGAAAGACCCAGGAAGACAGCCAAGCTCATAATCGACTTTTTAGCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_APPL1_ENST00000288266_chr3_57294802_+_ABHD6_ENST00000295962_chr3_58279316_+_3135nt GCTCGGCGCCTGGAGAAGGCTGTGCGGGCGGGGACGGCTGCAGCCCTTGCCGGAGAGGGCGGGCCGGGGTCAGCTGCGGCGGGCGGGCCG GCGCGGGGAGCTGTGGGCGGCAGCTGCGTCTCCTGCCACCGCCCTCCCTCCGCCACGATGCCGGGGATCGACAAGCTGCCCATCGAGGAG ACGCTGGAGGACAGCCCGCAGACAAGGTCTTTACTAGGTGTATTTGAAGAAGATGCCACAGCTATTTCCAACTATATGAACCAGTTGTAT CAAGCTATGCATCGGATTTATGATGCACAGAATGAATTAAGTGCAGCAACACACCTGACCTCAAAACTTTTAAAAGAATATGAAAAACAG CGTTTTCCATTGGGAGGTGATGATGAAGTTATGAGCTCTACATTGCAACAGTTTTCAAAAGTTATAGATGAGCTTAGCTCTTGTCATGCA GTGCTTTCAACTCAACTTGCTGATGCCATGATGTTCCCCATTACCCAGTTTAAAGAAAGAGATCTGAAAGAAATACTAACATTAAAGGAA GTATTTCAGATTGCAAGTAATGATCATGATGCTGCGATTAATAGATATAGCCGTTTATCAAAAAAAAGAGAAAATGACAAGGTGAAGTAT GAAGTAACAGAAGATGTGTACACATCCAGAAAGAAACAACACCAGACCATGATGCATTATTTTTGTGCATTAAATACTCTTCAGTACAAG AAGAAAATAGCATTGTTAGAACCTCTACTTGGGTACATGCAAGCTCAGATAAGTTTCTTTAAGATGGGTTCTGAAAATCTTAATGAACAA CTGGAAGAATTTTTAGCTAATATTGGAACAAGCGTTCAGAATGTTCGCAGGGAAATGGACAGTGATATAGAGACCATGCAACAGACAATA GAGGATTTGGAAGTAGCCAGTGATCCCTTATATGTGCCTGACCCAGACCCCACCAAATTTCCTGTTAATCGAAATTTAACCCGAAAGGCT GGATACCTTAATGCTAGGAATAAAACAGGCTTGGTGTCATCTACCTGGGACAGACAGTTTTACTTCACGCAGGGTGGAAATTTAATGAGT CAGGCCCGTGGGGATGTAGCAGGAGGCCTGGCCATGGACATAGACAACTGTTCAGTGATGGCTGTGGACTGTGAAGACAGACGATATTGT TTTCAGATCACCTCTTTCGATGGAAAAAAATCTTCAATTTTGCAAGCAGAGAGTAAAAAAGATCATGAAGAGTGGATCTGTACAATAAAC AACATATCTAAACAAATATACTTAAGTGAAAATCCAGAGGAAACTGCTGCACGAGTAAATCAATCAGCTCTGGAAGCTGTCACTCCTTCC CCATCTTTCCAGCAGAGGCACGAGAGCCTGCGGCCAGCAGCAGGACAATCTCGGCCACCGACAGCTCGAACCAGCAGTTCAGGATCCTTA GGATCTGAGTCTACAAATTTGGCTGCCCTCTCTCTAGATTCTCTTGTTGCCCCAGACACCCCAATACAGTTTGACATAATTTCTCCTGTG TGTGAAGATCAGCCTGGCCAGGCAAAAGCCTTTGGCCAGGGAGGCAGGCGTACAAATCCATTTGGAGAATCTGGAGGAAGTACAAAATCT GAAACTGAAGATTCTATTCTTCATCAGTTATTTATTGTCCGATTCCTTGGTTCAATGGAGGTGAAATCAGATGACCATCCAGATGTTGTT TATGAAACTATGCGCCAAATCTTAGCTGCCCGGGCCATCCATAACATCTTTCGTATGACAGAATCGCATTTATTAGTCACTTGTGACTGT TTAAAGTTAATTGATCCACAGACACAAGTTACAAGGCTCACGTTTCCATTACCTTGTGTAGTTTTGTATGCTACACACCAGGAAAATAAG CGCCTTTTTGGATTTGTTCTTCGGACATCAAGCGGGAGAAGTGAAAGTAATCTGTCATCAGTCTGCTATATATTTGAGTCAAACAATGAG GGGGAAAAGGTGCTGGATGTGTCTGGGGCAGACATGTTGGCCAAGTCAATTGCCAACTGCCAGGTGGAGCTTCTGGAAAACTGTGGGCAC TCAGTAGTGATGGAAAGACCCAGGAAGACAGCCAAGCTCATAATCGACTTTTTAGCTTCTGTGCACAACACAGACAACAACAAGAAGCTG GACTGAGGCCCCGACTGCAGCCTGCATTCTGCACACAGCATCTGCTCCCATCCCCCAAGTCTGACGCAGCCACCACTCTCAGGGATCCTG CCCCAAATGCGGTCGGAGCGCCAGTGACCCTGAGGAAGCCCGTCCCTTATCCCTGGTATCCACGGTTCCCCAGAGCTTTGGGGACCACGC GAAAACCTCCAAGATATTTTTCACAAAATAGAAACTCATATGGAACAAAATAAGAAACCCCAGCCATGAAATCTACCATGAAGTCTTCAA GTTCATGTCACTGAGAAGCTTGTGCAAAGCAGCCACCTTGGACCATAATTAAATCAAGGACATTTTCTTTGAGACATTCCTTATAGTTGG AGACTCAAGATATTTTTGTTGCATCAGGTGTATTCCCTTGCATGGGCAGTGGCTTTTATAGGAGCATTAGTCCTCATTCGCTGAACCCTG TTGTTTAGGTCTAATTTAAGTTTTACATAGAGACCCATGTATGACTGCAGCCCATTGGCTGCAAGACCAGGGAGGAAAGTGGCAAGCTGT AGAAAATGTTTACACGCATGGAGGGGCATTGCTCTAGCCCTCAGAGCGTCCGGAGCAGCAGGGTACATGGGTGGGAGGTTCATTCAGCAC CCACCAGTCAGGTATGTTCTGAGTGAACCCACAGCAGTCGCAGAATGAGCACCTGGCAGGGTGGGTTTCCTAGGAATAATTTATTATTTT TAAAAATAGGCCTAATAAAGCAATAATGTTCTAGACATCTGTCTAAGTAATCAGACTCAGGTTCCACACACAAGCAACAACTCGTGGGCC TCTTTTCTATTTCAATGTGCTACTAAGAACCCTTGGATGTAACATACTAGTTAGTTAATGAATTCTGTGAATTCTGTGAAGAGTAATGTG |
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FusionGenePPI for APPL1_ABHD6 |
| 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 |
| APPL1 | AKT2, APPL2, TRAF2, DCC, MTA2, HDAC1, HDAC2, RBBP4, RBBP7, RUVBL2, RAB5A, ELAVL1, FSHR, ADIPOR1, ADIPOR2, APPL1, RAB21, VCP, EGFR, PLEKHF2, PIK3R1, AKT1, AR, HDAC3, HDAC5, TRAF6, DPYSL5, KXD1, CMTM4, CLUH, KIAA1468, TTC4, MAGEA9, MEOX1, FARS2, UBE2O, RHEBL1, MAP3K1, GIPC2, C16orf70, NTRK1, BATF3, BRWD1, RTCB, DOK3, DOK7, INO80E, KLF15, MAGEC3, ZNF829, CBL, CBLB, DOK2, ID1, SH2D2A, SOCS6, SCAPER, PIK3R2, TP53, TMEM17, PIK3CA, TGFBR1, PRKCZ, TUBB3, ZNF830, TPCN2, FAM167A, KLHL2, OCRL, CLTA, CLTB, EIF3CL | ABHD6 | CKMT2, PCGF2, NCS1, C5AR2, PCDHA3, FSHR |
| - 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 APPL1_ABHD6 |
| 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 APPL1_ABHD6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | APPL1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | APPL1 | C4225299 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 | 1 | UNIPROT |
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