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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: 27457

FusionGeneSummary for PLAGL1_DYNC1H1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLAGL1_DYNC1H1
Fusion gene ID: 27457
HgeneTgene
Gene symbol

PLAGL1

DYNC1H1

Gene ID

5325

1778

Gene namePLAG1 like zinc finger 1dynein cytoplasmic 1 heavy chain 1
SynonymsLOT1|ZAC|ZAC1CMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22
Cytomap

6q24.2

14q32.31

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein PLAGL1PLAG-like 1lost on transformation 1pleiomorphic adenoma gene-like 1tumor suppressor ZACcytoplasmic dynein 1 heavy chain 1dynein heavy chain, cytosolicdynein, cytoplasmic, heavy polypeptide 1
Modification date2018052320180523
UniProtAcc

Q9UM63

Q14204

Ensembl transtripts involved in fusion geneENST00000429150, ENST00000416623, 
ENST00000392309, ENST00000392307, 
ENST00000437412, ENST00000444202, 
ENST00000493898, ENST00000360537, 
ENST00000354765, ENST00000367572, 
ENST00000367571, 
ENST00000360184, 
ENST00000556791, 
Fusion gene scores* DoF score4 X 4 X 3=487 X 9 X 3=189
# samples 39
** MAII scorelog2(3/48*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/189*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLAGL1 [Title/Abstract] AND DYNC1H1 [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
HgenePLAGL1

GO:0045944

positive regulation of transcription by RNA polymerase II

9671765|15888726


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
ChiTaRS3.1DR980000PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
* 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
intron-3CDSENST00000429150ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000429150ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-3CDSENST00000416623ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000416623ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-3CDSENST00000392309ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000392309ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-3CDSENST00000392307ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000392307ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-3CDSENST00000437412ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000437412ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-3CDSENST00000444202ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000444202ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-3CDSENST00000493898ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000493898ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-3CDSENST00000360537ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000360537ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-3CDSENST00000354765ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000354765ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-3CDSENST00000367572ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000367572ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-3CDSENST00000367571ENST00000360184PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+
intron-intronENST00000367571ENST00000556791PLAGL1chr6

144281759

+DYNC1H1chr14

102516789

+

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FusionProtFeatures for PLAGL1_DYNC1H1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLAGL1

Q9UM63

DYNC1H1

Q14204

Cytoplasmic dynein 1 acts as a motor for theintracellular retrograde motility of vesicles and organelles alongmicrotubules. Dynein has ATPase activity; the force-producingpower stroke is thought to occur on release of ADP. Plays a rolein mitotic spindle assembly and metaphase plate congression(PubMed:27462074). {ECO:0000269|PubMed:27462074}.

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 PLAGL1_DYNC1H1


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PLAGL1_DYNC1H1


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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RelatedDrugs for PLAGL1_DYNC1H1


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 PLAGL1_DYNC1H1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLAGL1C0038356Stomach Neoplasms1CTD_human
TgeneDYNC1H1C3280220CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O4ORPHANET;UNIPROT
TgeneDYNC1H1C3281202MENTAL RETARDATION, AUTOSOMAL DOMINANT 134UNIPROT
TgeneDYNC1H1C1834690Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant2ORPHANET;UNIPROT
TgeneDYNC1H1C0025958Microcephaly1CTD_human
TgeneDYNC1H1C1955869Malformations of Cortical Development1CTD_human
TgeneDYNC1H1C3714756Intellectual Disability1CTD_human;HPO