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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 28628

FusionGeneSummary for PREP_ATG5

check button Fusion gene summary
Fusion gene informationFusion gene name: PREP_ATG5
Fusion gene ID: 28628
HgeneTgene
Gene symbol

PREP

ATG5

Gene ID

5550

9474

Gene nameprolyl endopeptidaseautophagy related 5
SynonymsPE|PEPAPG5|APG5-LIKE|APG5L|ASP|SCAR25|hAPG5
Cytomap

6q21

6q21

Type of geneprotein-codingprotein-coding
Descriptionprolyl endopeptidasedJ355L5.1 (prolyl endopeptidase)post-proline cleaving enzymeprolyl oligopeptidaseautophagy protein 5APG5 autophagy 5-likeATG5 autophagy related 5 homologapoptosis-specific protein
Modification date2018052320180527
UniProtAcc

P48147

Q9H1Y0

Ensembl transtripts involved in fusion geneENST00000369110, ENST00000343245, 
ENST00000369070, ENST00000369076, 
ENST00000360666, ENST00000475645, 
Fusion gene scores* DoF score12 X 7 X 5=4207 X 7 X 4=196
# samples 128
** MAII scorelog2(12/420*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/196*10)=-1.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PREP [Title/Abstract] AND ATG5 [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)

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

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-78-7153-01APREPchr6

105816778

-ATG5chr6

106696119

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shiftENST00000369110ENST00000343245PREPchr6

105816778

-ATG5chr6

106696119

-
Frame-shiftENST00000369110ENST00000369070PREPchr6

105816778

-ATG5chr6

106696119

-
Frame-shiftENST00000369110ENST00000369076PREPchr6

105816778

-ATG5chr6

106696119

-
In-frameENST00000369110ENST00000360666PREPchr6

105816778

-ATG5chr6

106696119

-
5CDS-intronENST00000369110ENST00000475645PREPchr6

105816778

-ATG5chr6

106696119

-

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FusionProtFeatures for PREP_ATG5


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

P48147

ATG5

Q9H1Y0

Cleaves peptide bonds on the C-terminal side of prolylresidues within peptides that are up to approximately 30 aminoacids long. Involved in autophagic vesicle formation. Conjugationwith ATG12, through a ubiquitin-like conjugating system involvingATG7 as an E1-like activating enzyme and ATG10 as an E2-likeconjugating enzyme, is essential for its function. The ATG12-ATG5conjugate acts as an E3-like enzyme which is required forlipidation of ATG8 family proteins and their association to thevesicle membranes. Involved in mitochondrial quality control afteroxidative damage, and in subsequent cellular longevity. Plays acritical role in multiple aspects of lymphocyte development and isessential for both B and T lymphocyte survival and proliferation.Required for optimal processing and presentation of antigens forMHC II. Involved in the maintenance of axon morphology andmembrane structures, as well as in normal adipocytedifferentiation. Promotes primary ciliogenesis through removal ofOFD1 from centriolar satellites and degradation of IFT20 via theautophagic pathway. {ECO:0000250|UniProtKB:Q99J83,ECO:0000269|PubMed:12207896, ECO:0000269|PubMed:20580051,ECO:0000269|PubMed:22170153, ECO:0000269|PubMed:26812546}. May play an important role in the apoptotic process,possibly within the modified cytoskeleton. Its expression is arelatively late event in the apoptotic process, occurringdownstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.{ECO:0000269|PubMed:15778222, ECO:0000269|PubMed:7796880}. (Microbial infection) May act as a proviral factor. Inassociation with ATG12, negatively regulates the innate antiviralimmune response by impairing the type I IFN production pathwayupon vesicular stomatitis virus (VSV) infection (PubMed:17709747).Required for the translation of incoming hepatitis C virus (HCV)RNA and, thereby, for initiation of HCV replication, but notrequired once infection is established (PubMed:19666601).{ECO:0000269|PubMed:17709747, ECO:0000269|PubMed:19666601}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PREP_ATG5


check button 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_PREP_ENST00000369110_chr6_105816778_-_ATG5_ENST00000360666_chr6_106696119_-_295aa
MLSLQYPDVYRDETAVQDYHGHKICDPYAWLEDPDSEQTKAFVEAQNKITVPFLEQCPIRGLYKERMTELYDYPKYSCHFKKGKRYFYFY
NTGLQNQRVLYVQDSLEGEARVFLDPNILSDDGTVALRGYAFSEDGEYFAYGLSASGSDWVTIKFMKVDGAKELPDVLERVKFSCMAWTH
DGKGMFYNSYPQQDGKSDGTETSTNLHQKLYYHVLGTDQSEDILCAEFPDEPKWMGGAETDLTSFGPSIGNSWNILQKKMDFVISPLEYI


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_PREP_ENST00000369110_chr6_105816778_-_ATG5_ENST00000360666_chr6_106696119_-_885nt
ATGCTGTCCCTTCAGTACCCCGACGTGTACCGCGACGAGACCGCCGTACAGGATTATCATGGTCATAAAATTTGTGACCCTTACGCCTGG
CTTGAAGACCCCGACAGTGAACAGACTAAGGCCTTTGTGGAGGCCCAGAATAAGATTACTGTGCCATTTCTTGAGCAGTGTCCCATCAGA
GGTTTATACAAAGAGAGAATGACTGAACTATATGATTATCCCAAGTATAGTTGCCACTTCAAGAAAGGAAAACGGTATTTTTATTTTTAC
AATACAGGTTTGCAGAACCAGCGAGTATTATATGTACAGGATTCCTTAGAGGGTGAGGCCAGAGTGTTCCTGGACCCCAACATACTGTCT
GACGATGGCACAGTGGCACTCCGAGGTTATGCGTTCAGCGAAGATGGTGAATATTTTGCCTATGGTCTGAGTGCCAGTGGCTCAGACTGG
GTGACAATCAAGTTCATGAAAGTTGATGGTGCCAAAGAGCTTCCAGATGTGCTTGAAAGAGTCAAGTTCAGCTGTATGGCCTGGACCCAT
GATGGGAAGGGAATGTTCTACAACTCATACCCTCAACAGGATGGAAAAAGTGATGGCACAGAGACATCTACCAATCTCCACCAAAAGCTC
TACTACCATGTCTTGGGAACCGATCAGTCAGAAGATATTTTGTGTGCTGAGTTTCCTGATGAACCTAAATGGATGGGTGGAGCTGAGACA
GATTTGACCAGTTTTGGGCCATCAATCGGAAACTCATGGAATATCCTGCAGAAGAAAATGGATTTCGTTATATCCCCTTTAGAATATATC


* Fusion transcript sequences (Full-length transcript).
>In-frame_PREP_ENST00000369110_chr6_105816778_-_ATG5_ENST00000360666_chr6_106696119_-_3309nt
CTGCTTTCTGCACGTCCTCGCCGCCGCGCCGCCAGTCCGTTTGTGCTAGCTCTGGCCGTGAGCCGGCCGCCCGCTGCCGCCGGCCGCCCC
GCAGCTGCCTGCGCCCCAGCCGCGCCTCGCGGCCAGCCCGGCTAGCTCAGGTCCGCTCCCGGAGCCCGCGCCCCTCCACGCTGCCCCCTG
CCTGTCCCCGGCCATGCTGTCCCTTCAGTACCCCGACGTGTACCGCGACGAGACCGCCGTACAGGATTATCATGGTCATAAAATTTGTGA
CCCTTACGCCTGGCTTGAAGACCCCGACAGTGAACAGACTAAGGCCTTTGTGGAGGCCCAGAATAAGATTACTGTGCCATTTCTTGAGCA
GTGTCCCATCAGAGGTTTATACAAAGAGAGAATGACTGAACTATATGATTATCCCAAGTATAGTTGCCACTTCAAGAAAGGAAAACGGTA
TTTTTATTTTTACAATACAGGTTTGCAGAACCAGCGAGTATTATATGTACAGGATTCCTTAGAGGGTGAGGCCAGAGTGTTCCTGGACCC
CAACATACTGTCTGACGATGGCACAGTGGCACTCCGAGGTTATGCGTTCAGCGAAGATGGTGAATATTTTGCCTATGGTCTGAGTGCCAG
TGGCTCAGACTGGGTGACAATCAAGTTCATGAAAGTTGATGGTGCCAAAGAGCTTCCAGATGTGCTTGAAAGAGTCAAGTTCAGCTGTAT
GGCCTGGACCCATGATGGGAAGGGAATGTTCTACAACTCATACCCTCAACAGGATGGAAAAAGTGATGGCACAGAGACATCTACCAATCT
CCACCAAAAGCTCTACTACCATGTCTTGGGAACCGATCAGTCAGAAGATATTTTGTGTGCTGAGTTTCCTGATGAACCTAAATGGATGGG
TGGAGCTGAGACAGATTTGACCAGTTTTGGGCCATCAATCGGAAACTCATGGAATATCCTGCAGAAGAAAATGGATTTCGTTATATCCCC
TTTAGAATATATCAGACAACGACTGAAAGACCTTTCATTCAGAAGCTGTTTCGTCCTGTGGCTGCAGATGGACAGTTGCACACACTAGGA
GATCTCCTCAAAGAAGTTTGTCCTTCTGCTATTGATCCTGAAGATGGGGAAAAAAAGAATCAAGTGATGATTCATGGAATTGAGCCAATG
TTGGAAACACCTCTGCAGTGGCTGAGTGAACATCTGAGCTACCCGGATAATTTTCTTCATATTAGTATCATCCCACAGCCAACAGATTGA
AGGATCAACTATTTGCCTGAACAGAATCATCCTTAAATGGGATTTATCAGAGCATGTCACCCTTTTGCTTCAATCAGGTTTGGTGGAGGC
AACCTGACCAGAAACACTTCGCTGCTGCAAGCCAGACAGGAAAAAGATTCCATGTCAGATAAGGCAACTGGGCTGGTCTTACTTTGCATC
ACCTCTGCTTTCCTCCACTGCCATCATTAAACCTCAGCTGTGACATGAAAGACTTACCGGACCACTGAAGGTCTTCTGTAAAATATAATG
AAGCTGAAACCTTTGGCCTAAGAAGAAAATGGAAGTATGTGCCACTCGATTTGTATTTCTGATTAACAAATAAACAGGGGTATTTCCTAA
GGTGACCATGGTTGAACTTTAGCTCATGAAAGTGGAAACATTGGTTTAATTTTCAAGAGAATTAAGAAAGTAAAAGAGAAATTCTGTTAT
CAATAACTTGCAAGTAATTTTTTGTAAAAGATTGAATTACAGTAAACCCATCTTTCCTTAACGAAAATTTCCTATGTTTACAGTCTGTCT
ATTGGTATGCAATCTTGTAACTTTGATAATGAACAGTGAGAGATTTTTAAATAAAGCCTCTAAATATGTTTTGTCATTTAATAACATACA
GTTTTGTCACTTTTCAAGTACTTTCTGACTCACATACAGTAGATCACTTTTTACTCTGTGTTACCATTTTGACTGGTCGTCATTGGCATG
GGGTGGATATAGGGCATAGGATTACTTGTCTCAGAAGCTGTCATAGAATTTCTTGCTGCCAATTAAAAAACCTGTGTTCTTTACACACTA
CACGTATAAATATTGTAACTGTTCATCTTTGTTGTTTTATCACTGTAAGCCTGTCAAATCATAGTATCCTAAGCATCTGTAAATGCTAAT
TTTGCATTTTTGGAAAAACCCATTCCTTCCAAGCTAGTGTTTTTCATTGGCTCCAGGTCTAATTTTTCACTGTGGTCCCTGGCAGCCAGT
CTTTTGAAGTTTAAAGATTACCTGTCTCTTGACTGCAGTACCTTTTCTTTAATTTTTACCAAAAATATCCAGAGGTTACTGGAGTTCTTA
TTCAATATAAGGAAAGTTTGCTGCACTTTATTACCAAGCCTCTGGGATTTTACCAGTCAAACATATTTGTGCATTACATTTCATTTCTTG
TGAGCTAGCTGGCTGTCCATATTGAATGTTGACCCATTTGAGTACGCTAAAAGGCTTACAGTATCAGACACGATCATGGTTTTAGATCCC
ATAATAAAAATGAATGTTTTTCTTATAAAAAATTATACAAATGCTGAAGTGAGATTCTACTATTGTTCATTGCTTCCTTTTCTTTTTCCT
TTTGCGATTTTCACTGATTAATAGCACATTTCTTCACAAAATTAGATAAAGTTGGTCAAAGACCAGATATTCTGGAATGGAAATTGTAAA
GCTTAATCAAAAAGAATAGCCAGTACAGCATACAATCTCAGAAACTTAGAAGCAAGTAGAAAATAATTGGTTGATGTAAACGAAAGTGCC
ATTTTAGTAAAGGCAGGAAAAAAATAGCAATATTTGAGTTATGTAAGGATAAAAAATCCACTGACTTGTATTTTTGCACAAGAGGCTGGT
CTGAATATGATTGTTCACATTAAGAGTGTTTATTCGTCGGTTCATTTTGGGGATTTTCCCCCTTGATGTTTTGACAGATTGAAGTGAGCT
TTAGTGAGCAAAAGGATCAGAATGCAGGGAACACTAAGCTGTGATGAAGAAAGTGTGGTAAAAAGCCAGAGTAGTTTTATACAGACAAAA
CCAGTGTCAGGCCTTTGCAGTAGGCTTGAGTGAACTTCTGATCTAGATTTGAAAGTAAATTTTATGAAGACATTGCCCATTTTTACTTCC
TCATTCATTATTGTACCAGCATCATAGCTTTATTACTCTAATCCCAGGTAAGTCAAGCCTACAATGCCCTAGAGGAAGAGTAAAACCAGA


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FusionGenePPI for PREP_ATG5


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
PREPSIRT7, TARS, BRCA1, SGOL2, AIP, GLO1, HSPA4, HSPD1, HSPH1, KCNAB2, PABPC4, ALDOA, ALDOC, CTH, GDI2, ISYNA1, ME1, OAT, PABPC1, QDPR, NTRK1, SUCO, MTG2, NSMAF, RHPN1, KIF3A, SNCAATG5ATG12, IMPDH2, ATG16L1, ATG3, TECPR1, TKT, MAP1LC3B, MAP1LC3C, SIRT1, ELAVL1, TAB2, TAB3, WDFY3, HTT, CAV1, EXOC4, RB1CC1, FADD, WIPI2, MEOX2, VCP, KEAP1, CCHCR1, TEKT4, CAPN1, CAPN2, BCL2L1, XPO1, BCL10, SQSTM1, CALCOCO2, OPTN, BSN, IKBIP


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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RelatedDrugs for PREP_ATG5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PREP_ATG5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePREPC0002622Amnesia1CTD_human
HgenePREPC0002624Retrograde amnesia1CTD_human
HgenePREPC0005586Bipolar Disorder1PSYGENET
HgenePREPC0038356Stomach Neoplasms1CTD_human
HgenePREPC0338831Manic1PSYGENET
TgeneATG5C0002871Anemia1CTD_human
TgeneATG5C0019209Hepatomegaly1CTD_human
TgeneATG5C0023380Lethargy1CTD_human
TgeneATG5C0024312Lymphopenia1CTD_human
TgeneATG5C0027540Necrosis1CTD_human
TgeneATG5C1262477Weight decreased1CTD_human
TgeneATG5C4277682Chemical and Drug Induced Liver Injury1CTD_human