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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: 7444

FusionGeneSummary for CLN6_PAQR5

check button Fusion gene summary
Fusion gene informationFusion gene name: CLN6_PAQR5
Fusion gene ID: 7444
HgeneTgene
Gene symbol

CLN6

PAQR5

Gene ID

54982

54852

Gene nameCLN6, transmembrane ER proteinprogestin and adipoQ receptor family member 5
SynonymsCLN4A|HsT18960|nclfMPRG
Cytomap

15q23

15q23

Type of geneprotein-codingprotein-coding
Descriptionceroid-lipofuscinosis neuronal protein 6ceroid-lipofuscinosis neuronal 6 late infantileceroid-lipofuscinosis, neuronal 6, late infantilemembrane progestin receptor gammamPR gammamembrane progesterone P4 receptor gammamembrane progesterone receptor gammaprogesterone and adipoQ receptor family member 5progestin and adipoQ receptor family member V
Modification date2018052320180519
UniProtAcc

Q9NWW5

Q9NXK6

Ensembl transtripts involved in fusion geneENST00000249806, ENST00000565471, 
ENST00000418702, ENST00000566347, 
ENST00000538696, ENST00000564752, 
ENST00000569336, 
ENST00000395407, 
ENST00000561153, ENST00000340965, 
ENST00000561027, 
Fusion gene scores* DoF score5 X 3 X 4=604 X 4 X 3=48
# samples 54
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CLN6 [Title/Abstract] AND PAQR5 [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
TCGARVBRCATCGA-B6-A0X1-01ACLN6chr15

68521840

-PAQR5chr15

69629680

+
* 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
5CDS-5UTRENST00000249806ENST00000395407CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000249806ENST00000561153CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000249806ENST00000340965CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-intronENST00000249806ENST00000561027CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000565471ENST00000395407CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000565471ENST00000561153CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000565471ENST00000340965CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-intronENST00000565471ENST00000561027CLN6chr15

68521840

-PAQR5chr15

69629680

+
5UTR-5UTRENST00000418702ENST00000395407CLN6chr15

68521840

-PAQR5chr15

69629680

+
5UTR-5UTRENST00000418702ENST00000561153CLN6chr15

68521840

-PAQR5chr15

69629680

+
5UTR-5UTRENST00000418702ENST00000340965CLN6chr15

68521840

-PAQR5chr15

69629680

+
5UTR-intronENST00000418702ENST00000561027CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000566347ENST00000395407CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000566347ENST00000561153CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000566347ENST00000340965CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-intronENST00000566347ENST00000561027CLN6chr15

68521840

-PAQR5chr15

69629680

+
intron-5UTRENST00000538696ENST00000395407CLN6chr15

68521840

-PAQR5chr15

69629680

+
intron-5UTRENST00000538696ENST00000561153CLN6chr15

68521840

-PAQR5chr15

69629680

+
intron-5UTRENST00000538696ENST00000340965CLN6chr15

68521840

-PAQR5chr15

69629680

+
intron-intronENST00000538696ENST00000561027CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000564752ENST00000395407CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000564752ENST00000561153CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-5UTRENST00000564752ENST00000340965CLN6chr15

68521840

-PAQR5chr15

69629680

+
5CDS-intronENST00000564752ENST00000561027CLN6chr15

68521840

-PAQR5chr15

69629680

+
5UTR-5UTRENST00000569336ENST00000395407CLN6chr15

68521840

-PAQR5chr15

69629680

+
5UTR-5UTRENST00000569336ENST00000561153CLN6chr15

68521840

-PAQR5chr15

69629680

+
5UTR-5UTRENST00000569336ENST00000340965CLN6chr15

68521840

-PAQR5chr15

69629680

+
5UTR-intronENST00000569336ENST00000561027CLN6chr15

68521840

-PAQR5chr15

69629680

+

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FusionProtFeatures for CLN6_PAQR5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CLN6

Q9NWW5

PAQR5

Q9NXK6

Plasma membrane progesterone (P4) receptor coupled to Gproteins (PubMed:23763432). Seems to act through a G(i) mediatedpathway (PubMed:23763432). May be involved in oocyte maturation(PubMed:12601167). {ECO:0000269|PubMed:12601167,ECO:0000303|PubMed:23763432}.

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 CLN6_PAQR5


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 CLN6_PAQR5


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
CLN6DERL1, VCP, ILK, RNF2, BMI1, PTPRN, PTPRO, TRIM25, LMNAPAQR5SYNE4, PHYHIP, LMNA


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 CLN6_PAQR5


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 CLN6_PAQR5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCLN6C1866282CEROID LIPOFUSCINOSIS, NEURONAL, 66CTD_human;ORPHANET;UNIPROT
HgeneCLN6C0021368Inflammation1CTD_human
HgeneCLN6C0022797Adult Neuronal Ceroid Lipofuscinosis1ORPHANET;UNIPROT
HgeneCLN6C0026613Motor Skills Disorders1CTD_human
HgeneCLN6C0027877Neuronal Ceroid-Lipofuscinoses1CTD_human
HgeneCLN6C0042790Vision Disorders1CTD_human
HgeneCLN6C0333641Atrophic1CTD_human
HgeneCLN6C0751778Myoclonic Epilepsies, Progressive1CTD_human
HgeneCLN6C1262477Weight decreased1CTD_human