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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: 3199

FusionGeneSummary for ATG5_PDSS2

check button Fusion gene summary
Fusion gene informationFusion gene name: ATG5_PDSS2
Fusion gene ID: 3199
HgeneTgene
Gene symbol

ATG5

PDSS2

Gene ID

9474

57107

Gene nameautophagy related 5decaprenyl diphosphate synthase subunit 2
SynonymsAPG5|APG5-LIKE|APG5L|ASP|SCAR25|hAPG5C6orf210|COQ10D3|DLP1|bA59I9.3|hDLP1
Cytomap

6q21

6q21

Type of geneprotein-codingprotein-coding
Descriptionautophagy protein 5APG5 autophagy 5-likeATG5 autophagy related 5 homologapoptosis-specific proteindecaprenyl-diphosphate synthase subunit 2all-trans-decaprenyl-diphosphate synthase subunit 2decaprenyl pyrophosphate synthase subunit 2decaprenyl pyrophosphate synthetase subunit 2prenyl (decaprenyl) diphosphate synthase, subunit 2subunit 2 of decapr
Modification date2018052720180527
UniProtAcc

Q9H1Y0

Q86YH6

Ensembl transtripts involved in fusion geneENST00000343245, ENST00000369070, 
ENST00000369076, ENST00000360666, 
ENST00000475645, 
ENST00000369037, 
ENST00000453874, ENST00000369031, 
Fusion gene scores* DoF score16 X 8 X 9=11527 X 5 X 6=210
# samples 168
** MAII scorelog2(16/1152*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATG5 [Title/Abstract] AND PDSS2 [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
TgenePDSS2

GO:0006744

ubiquinone biosynthetic process

16262699

TgenePDSS2

GO:0008299

isoprenoid biosynthetic process

16262699


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
TCGARVGBMTCGA-06-1804-01AATG5chr6

106649847

-PDSS2chr6

107475981

-
* 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-shitENST00000343245ENST00000369037ATG5chr6

106649847

-PDSS2chr6

107475981

-
Frame-shitENST00000343245ENST00000453874ATG5chr6

106649847

-PDSS2chr6

107475981

-
5CDS-intronENST00000343245ENST00000369031ATG5chr6

106649847

-PDSS2chr6

107475981

-
Frame-shitENST00000369070ENST00000369037ATG5chr6

106649847

-PDSS2chr6

107475981

-
In-frameENST00000369070ENST00000453874ATG5chr6

106649847

-PDSS2chr6

107475981

-
5CDS-intronENST00000369070ENST00000369031ATG5chr6

106649847

-PDSS2chr6

107475981

-
Frame-shitENST00000369076ENST00000369037ATG5chr6

106649847

-PDSS2chr6

107475981

-
In-frameENST00000369076ENST00000453874ATG5chr6

106649847

-PDSS2chr6

107475981

-
5CDS-intronENST00000369076ENST00000369031ATG5chr6

106649847

-PDSS2chr6

107475981

-
3UTR-3CDSENST00000360666ENST00000369037ATG5chr6

106649847

-PDSS2chr6

107475981

-
3UTR-3CDSENST00000360666ENST00000453874ATG5chr6

106649847

-PDSS2chr6

107475981

-
3UTR-intronENST00000360666ENST00000369031ATG5chr6

106649847

-PDSS2chr6

107475981

-
5UTR-3CDSENST00000475645ENST00000369037ATG5chr6

106649847

-PDSS2chr6

107475981

-
5UTR-3CDSENST00000475645ENST00000453874ATG5chr6

106649847

-PDSS2chr6

107475981

-
5UTR-intronENST00000475645ENST00000369031ATG5chr6

106649847

-PDSS2chr6

107475981

-

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FusionProtFeatures for ATG5_PDSS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATG5

Q9H1Y0

PDSS2

Q86YH6

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}. Supplies decaprenyl diphosphate, the precursor for theside chain of the isoprenoid quinones ubiquinone-10.{ECO:0000269|PubMed:16262699}.

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 ATG5_PDSS2


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_ATG5_ENST00000369070_chr6_106649847_-_PDSS2_ENST00000453874_chr6_107475981_-_53aa

>In-frame_ATG5_ENST00000369076_chr6_106649847_-_PDSS2_ENST00000453874_chr6_107475981_-_53aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ATG5_ENST00000369070_chr6_106649847_-_PDSS2_ENST00000453874_chr6_107475981_-_159nt
TTGCGAGAAAGAATCAAAGCTGGCAAAGGTGTGACTTCAGCTATTGACCTGTGTCGTTACCATGGAAACAAGGCACTGGAGGCCCTGGAG

>In-frame_ATG5_ENST00000369076_chr6_106649847_-_PDSS2_ENST00000453874_chr6_107475981_-_159nt
TTGCGAGAAAGAATCAAAGCTGGCAAAGGTGTGACTTCAGCTATTGACCTGTGTCGTTACCATGGAAACAAGGCACTGGAGGCCCTGGAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_ATG5_ENST00000369070_chr6_106649847_-_PDSS2_ENST00000453874_chr6_107475981_-_1219nt
CTGGACTTGTGGTGCGCTGCCAGGGCTCCGCAGCGTTGCCGGTTGTATTCGCTGGATACCAGAGGGCGGAAGTGCAGCAGGGTTCAGCTC
CGACCTCCGCGCCGGTGCTTTTTGCGGCTGCGCGGGCTTCCTGGAGTCCTGCTACCGCGTCCCCGCAGGACAGTGTGTCAGGCGGGCAGC
TTGCCCCGCCGCCCCACCGGAGCGCGGAATCTGGGCGTCCCCACCAGTGCGGGGAGCCGGAAGGAGGAGCCATAGCTTGGAGTAGGTTTG
GCTTTGGTTGAAATAAGAATTTAGCCTGTATGTACTGCTTTAACTCCTGGAAGAATGACAGATGACAAAGATGTGCTTCGAGATGTGTGG
TTTGGACGAATTCCAACTTGTTTCACGCTATATCAGGATGAGATAACTGAAAGGGAAGCAGAACCATACTATGCATTATCCAATTGGTTT
GCTATTTGATCTTCTTGCATCAAGTTCAGCTCTTCCTTGGAACATCACAGTACATTTTAAGAGTTTTCCAGAAAAAGACCTTCTGCACTG
TCCATCTAAGGATGCAATTGAAGCTCATTTTATGTCATGTATGAAAGAAGCTGATGCTTTAAAACATAAAAGTCAAGTAATCAATGAAAT
GCAGAAAAAAGATCACAAGCAACTCTGGATGGGATTGCAAAATGACAGATTTGACCAGTTTTGGGCCATCAATCGGAAACTCATGGAATA
TCCTGCAGAAGAAAATGGATTTCGTTATATCCCCTTTAGAATATATCAGACAACGACTGAAAGACCTTTCATTCAGAAGCTGTTTCGTCC
TGTGGCTGCAGATGGACAGTTGCACACACTAGGAGATCTCCTCAAAGAAGTTTGTCCTTCTGCTATTGATCCTGAAGTTGCGAGAAAGAA
TCAAAGCTGGCAAAGGTGTGACTTCAGCTATTGACCTGTGTCGTTACCATGGAAACAAGGCACTGGAGGCCCTGGAGAGCTTTCCTCCCT
CGGAGGCCAGATCTGCTTTAGAAAACATTGTGTTTGCTGTGACCAGATTTTCATGACATCAAATTAAAAAGACACTATTGTTAGTTAGCT
GAAAATCCTAGGGAATGAGGTTGATTGGGAGCGCTTTCACGATGCGTTAATGACTTTTAAAACATATGCATTTTTCCTTCCTTTTATCAC

>In-frame_ATG5_ENST00000369076_chr6_106649847_-_PDSS2_ENST00000453874_chr6_107475981_-_1347nt
CTGGACTTGTGGTGCGCTGCCAGGGCTCCGCAGCGTTGCCGGTTGTATTCGCTGGATACCAGAGGGCGGAAGTGCAGCAGGGTTCAGCTC
CGACCTCCGCGCCGGTGCTTTTTGCGGCTGCGCGGGCTTCCTGGAGTCCTGCTACCGCGTCCCCGCAGGACAGTGTGTCAGGCGGGCAGC
TTGCCCCGCCGCCCCACCGGAGCGCGGAATCTGGGCGTCCCCACCAGTGCGGGGAGCCGGAAGGAGGAGCCATAGCTTGGAGTAGGTTTG
GCTTTGGTTGAAATAAGAATTTAGCCTGTATGTACTGCTTTAACTCCTGGAAGAATGACAGATGACAAAGATGTGCTTCGAGATGTGTGG
TTTGGACGAATTCCAACTTGTTTCACGCTATATCAGGATGAGATAACTGAAAGGGAAGCAGAACCATACTATTTGCTTTTGCCAAGAGTA
AGTTATTTGACGTTGGTAACTGACAAAGTGAAAAAGCACTTTCAGAAGGTTATGAGACAAGAAGACATTAGTGAGATATGGTTTGAATAT
GAAGGCACACCACTGAAATGGCATTATCCAATTGGTTTGCTATTTGATCTTCTTGCATCAAGTTCAGCTCTTCCTTGGAACATCACAGTA
CATTTTAAGAGTTTTCCAGAAAAAGACCTTCTGCACTGTCCATCTAAGGATGCAATTGAAGCTCATTTTATGTCATGTATGAAAGAAGCT
GATGCTTTAAAACATAAAAGTCAAGTAATCAATGAAATGCAGAAAAAAGATCACAAGCAACTCTGGATGGGATTGCAAAATGACAGATTT
GACCAGTTTTGGGCCATCAATCGGAAACTCATGGAATATCCTGCAGAAGAAAATGGATTTCGTTATATCCCCTTTAGAATATATCAGACA
ACGACTGAAAGACCTTTCATTCAGAAGCTGTTTCGTCCTGTGGCTGCAGATGGACAGTTGCACACACTAGGAGATCTCCTCAAAGAAGTT
TGTCCTTCTGCTATTGATCCTGAAGTTGCGAGAAAGAATCAAAGCTGGCAAAGGTGTGACTTCAGCTATTGACCTGTGTCGTTACCATGG
AAACAAGGCACTGGAGGCCCTGGAGAGCTTTCCTCCCTCGGAGGCCAGATCTGCTTTAGAAAACATTGTGTTTGCTGTGACCAGATTTTC
ATGACATCAAATTAAAAAGACACTATTGTTAGTTAGCTGAAAATCCTAGGGAATGAGGTTGATTGGGAGCGCTTTCACGATGCGTTAATG


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FusionGenePPI for ATG5_PDSS2


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
ATG5ATG12, 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, IKBIPPDSS2ELAVL1, APP, OXLD1, ACAD9, SDHA, THEM4, FDPS


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 ATG5_PDSS2


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 ATG5_PDSS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATG5C0002871Anemia1CTD_human
HgeneATG5C0019209Hepatomegaly1CTD_human
HgeneATG5C0023380Lethargy1CTD_human
HgeneATG5C0024312Lymphopenia1CTD_human
HgeneATG5C0027540Necrosis1CTD_human
HgeneATG5C1262477Weight decreased1CTD_human
HgeneATG5C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgenePDSS2C3553358COENZYME Q10 DEFICIENCY, PRIMARY, 31UNIPROT