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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:APPL1-ABHD6 (FusionGDB2 ID:HG26060TG57406)

Fusion Gene Summary for APPL1-ABHD6

check button Fusion gene summary
Fusion gene informationFusion gene name: APPL1-ABHD6
Fusion gene ID: hg26060tg57406
HgeneTgene
Gene symbol

APPL1

ABHD6

Gene ID

26060

57406

Gene nameadaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1abhydrolase domain containing 6, acylglycerol lipase
SynonymsAPPL|DIP13alpha|MODY14-
Cytomap('APPL1')('ABHD6')

3p14.3

3p14.3

Type of geneprotein-codingprotein-coding
DescriptionDCC-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 domaimonoacylglycerol lipase ABHD62-arachidonoylglycerol hydrolaseabhydrolase domain containing 6abhydrolase domain-containing protein 6lipase protein
Modification date2020031320200313
UniProtAcc.

Q9BV23

Ensembl transtripts involved in fusion geneENST00000288266, 
Fusion gene scores* DoF score6 X 5 X 6=1806 X 5 X 5=150
# samples 66
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/150*10)=-1.32192809488736
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]

Most frequent breakpointAPPL1(57294802)-ABHD6(58279316), # samples:2
Anticipated loss of major functional domain due to fusion event.APPL1-ABHD6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
APPL1-ABHD6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
APPL1-ABHD6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
APPL1-ABHD6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
APPL1-ABHD6 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
APPL1-ABHD6 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneAPPL1

GO:0006606

protein import into nucleus

26583432

HgeneAPPL1

GO:2000045

regulation of G1/S transition of mitotic cell cycle

15016378

TgeneABHD6

GO:0046464

acylglycerol catabolic process

22969151


check buttonFusion gene breakpoints across APPL1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across ABHD6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-30-1866-01AAPPL1chr3

57294802

+ABHD6chr3

58279316

+


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Fusion Gene ORF analysis for APPL1-ABHD6

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000288266ENST00000480457APPL1chr3

57294802

+ABHD6chr3

58279316

+
Frame-shiftENST00000288266ENST00000478253APPL1chr3

57294802

+ABHD6chr3

58279316

+
In-frameENST00000288266ENST00000295962APPL1chr3

57294802

+ABHD6chr3

58279316

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000288266APPL1chr357294802+ENST00000295962ABHD6chr358279316+3135198992165718

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000288266ENST00000295962APPL1chr357294802+ABHD6chr358279316+0.001408650.99859136

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Fusion Genomic Features for APPL1-ABHD6


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
APPL1chr357294802+ABHD6chr358279315+2.34E-081
APPL1chr357294802+ABHD6chr358279315+2.34E-081

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for APPL1-ABHD6


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr3:57294802/chr3:58279316)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ABHD6

Q9BV23

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also has a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). Also able to degrade bis(monoacylglycero)phosphate (BMP) and constitutes the major enzyme for BMP catabolism (PubMed:26491015). BMP, also known as lysobisphosphatidic acid, is enriched in late endosomes and lysosomes and plays a key role in the formation of intraluminal vesicles and in lipid sorting (PubMed:26491015). {ECO:0000250|UniProtKB:Q8R2Y0, ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:26491015}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAPPL1chr3:57294802chr3:58279316ENST00000288266+1922215_259614710.0Coiled coilOntology_term=ECO:0000255
HgeneAPPL1chr3:57294802chr3:58279316ENST00000288266+1922277_375614710.0DomainPH
HgeneAPPL1chr3:57294802chr3:58279316ENST00000288266+19223_268614710.0DomainBAR
HgeneAPPL1chr3:57294802chr3:58279316ENST00000288266+1922403_414614710.0MotifNote=F%26H
HgeneAPPL1chr3:57294802chr3:58279316ENST00000288266+19221_428614710.0RegionNote=Required for RAB5A binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAPPL1chr3:57294802chr3:58279316ENST00000288266+1922621_673614710.0Coiled coilOntology_term=ECO:0000255
HgeneAPPL1chr3:57294802chr3:58279316ENST00000288266+1922496_656614710.0DomainPID
TgeneABHD6chr3:57294802chr3:58279316ENST000002959627972_313279338.0DomainAB hydrolase-1
TgeneABHD6chr3:57294802chr3:58279316ENST0000047825381072_313279338.0DomainAB hydrolase-1
TgeneABHD6chr3:57294802chr3:58279316ENST00000295962791_8279338.0Topological domainExtracellular
TgeneABHD6chr3:57294802chr3:58279316ENST000002959627930_337279338.0Topological domainCytoplasmic
TgeneABHD6chr3:57294802chr3:58279316ENST000004782538101_8279338.0Topological domainExtracellular
TgeneABHD6chr3:57294802chr3:58279316ENST0000047825381030_337279338.0Topological domainCytoplasmic
TgeneABHD6chr3:57294802chr3:58279316ENST00000295962799_29279338.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneABHD6chr3:57294802chr3:58279316ENST000004782538109_29279338.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Gene Sequence for APPL1-ABHD6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>5676_5676_1_APPL1-ABHD6_APPL1_chr3_57294802_ENST00000288266_ABHD6_chr3_58279316_ENST00000295962_length(transcript)=3135nt_BP=1989nt
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

>5676_5676_1_APPL1-ABHD6_APPL1_chr3_57294802_ENST00000288266_ABHD6_chr3_58279316_ENST00000295962_length(amino acids)=718AA_BP=660
MEKAVRAGTAAALAGEGGPGSAAAGGPARGAVGGSCVSCHRPPSATMPGIDKLPIEETLEDSPQTRSLLGVFEEDATAISNYMNQLYQAM
HRIYDAQNELSAATHLTSKLLKEYEKQRFPLGGDDEVMSSTLQQFSKVIDELSSCHAVLSTQLADAMMFPITQFKERDLKEILTLKEVFQ
IASNDHDAAINRYSRLSKKRENDKVKYEVTEDVYTSRKKQHQTMMHYFCALNTLQYKKKIALLEPLLGYMQAQISFFKMGSENLNEQLEE
FLANIGTSVQNVRREMDSDIETMQQTIEDLEVASDPLYVPDPDPTKFPVNRNLTRKAGYLNARNKTGLVSSTWDRQFYFTQGGNLMSQAR
GDVAGGLAMDIDNCSVMAVDCEDRRYCFQITSFDGKKSSILQAESKKDHEEWICTINNISKQIYLSENPEETAARVNQSALEAVTPSPSF
QQRHESLRPAAGQSRPPTARTSSSGSLGSESTNLAALSLDSLVAPDTPIQFDIISPVCEDQPGQAKAFGQGGRRTNPFGESGGSTKSETE
DSILHQLFIVRFLGSMEVKSDDHPDVVYETMRQILAARAIHNIFRMTESHLLVTCDCLKLIDPQTQVTRLTFPLPCVVLYATHQENKRLF

--------------------------------------------------------------

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Fusion Gene PPI Analysis for APPL1-ABHD6


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for APPL1-ABHD6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for APPL1-ABHD6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPPL1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAPPL1C0342276Maturity onset diabetes mellitus in young1ORPHANET
HgeneAPPL1C4225299MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 141CTD_human;GENOMICS_ENGLAND;UNIPROT