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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: 32348

FusionGeneSummary for RTN1_DLL1

check button Fusion gene summary
Fusion gene informationFusion gene name: RTN1_DLL1
Fusion gene ID: 32348
HgeneTgene
Gene symbol

RTN1

DLL1

Gene ID

6252

28514

Gene namereticulon 1delta like canonical Notch ligand 1
SynonymsNSPDELTA1|DL1|Delta
Cytomap

14q23.1

6q27

Type of geneprotein-codingprotein-coding
Descriptionreticulon-1neuroendocrine-specific proteindelta-like protein 1H-Delta-1drosophila Delta homolog 1
Modification date2018052220180522
UniProtAcc

Q16799

O00548

Ensembl transtripts involved in fusion geneENST00000267484, ENST00000395090, 
ENST00000342503, ENST00000557422, 
ENST00000366756, 
Fusion gene scores* DoF score3 X 3 X 2=182 X 2 X 2=8
# samples 32
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: RTN1 [Title/Abstract] AND DLL1 [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
ChiTaRS3.1AF003522RTN1chr14

60063163

+DLL1chr6

170599302

-
* 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-5UTRENST00000267484ENST00000366756RTN1chr14

60063163

+DLL1chr6

170599302

-
intron-5UTRENST00000395090ENST00000366756RTN1chr14

60063163

+DLL1chr6

170599302

-
intron-5UTRENST00000342503ENST00000366756RTN1chr14

60063163

+DLL1chr6

170599302

-
intron-5UTRENST00000557422ENST00000366756RTN1chr14

60063163

+DLL1chr6

170599302

-

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FusionProtFeatures for RTN1_DLL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RTN1

Q16799

DLL1

O00548

May be involved in neuroendocrine secretion or inmembrane trafficking in neuroendocrine cells. Transmembrane ligand protein of NOTCH1, NOTCH2 andNOTCH3 receptors that binds the extracellular domain (ECD) ofNotch receptor in a cis and trans fashion manner(PubMed:11006133). Following transinteraction, ligand cellsproduce mechanical force that depends of a clathrin-mediatedendocytosis, requiring ligand ubiquitination, EPN1 interaction,and actin polymerisation; these events promote Notch receptorextracellular domain (NECD) transendocytosis and triggers Notchsignaling through induction of cleavage, hyperphosphorylation, andnuclear accumulation of the intracellular domain of Notchreceptors (NICD) (By similarity). Is required for embryonicdevelopment and maintenance of adult stem cells in many differenttissues and immune systeme; the DLL1-induced Notch signaling ismediated through an intercellular communication that regulatescell lineage, cell specification, cell patterning andmorphogenesis through effects on differentiation and proliferation(PubMed:11581320). Plays a role in brain development at differentlevel, namely by regulating neuronal differentiation of neuralprecursor cells via cell-cell interaction, most likely through thelateral inhibitory system in an endogenous level dependent-manner.During neocortex development, Dll1-Notch signaling transmission ismediated by dynamic interactions between intermediate neurogenicprogenitors and radial glia; the cell-cell interactions aremediated via dynamic and transient elongation processes, likely toreactivate/maintain Notch activity in neighboring progenitors, andcoordinate progenitor cell division and differentiation acrossradial and zonal boundaries. During cerebellar development,regulates Bergmann glial monolayer formation and its morphologicalmaturation through a Notch signaling pathway. At the retina andspinal cord level, regulates neurogenesis by preventing thepremature differentiation of neural progenitors and also bymaintaining progenitors in spinal cord through Notch signalingpathway. Also controls neurogenesis of the neural tube in aprogenitor domain-specific fashion along the dorsoventral axis.Maintains quiescence of neural stem cells and plays a role as afate determinant that segregates asymmetrically to one daughtercell during neural stem cells mitosis, resulting in neuronaldifferentiation in Dll1-inheriting cell. Plays a role in immunesysteme development, namely the development of all T-cells andmarginal zone (MZ) B-cells (By similarity). Blocks thedifferentiation of progenitor cells into the B-cell lineage whilepromoting the emergence of a population of cells with thecharacteristics of a T-cell/NK-cell precursor (PubMed:11581320).Also plays a role during muscle development. During earlydevelopment, inhibits myoblasts differentiation from the medialdermomyotomal lip and later regulates progenitor celldifferentiation. Directly modulates cell adhesion and basal laminaformation in satellite cells through Notch signaling. Maintainsmyogenic progenitors pool by suppressing differentiation throughdown-regulation of MYOD1 and is required for satellite cell homingand PAX7 expression. During craniofacial and trunk myogenesissuppresses differentiation of cranial mesoderm-derived and somite-derived muscle via MYOD1 regulation but in cranial mesoderm-derived progenitors, is neither required for satellite cell homingnor for PAX7 expression. Also plays a role during pancreatic celldevelopment. During type B pancreatic cell development, may beinvolved in the initiation of proximodistal patterning in theearly pancreatic epithelium. Stimulates multipotent pancreaticprogenitor cells proliferation and pancreatic growth bymaintaining HES1 expression and PTF1A protein levels. During fetalstages of development, is required to maintain arterial identityand the responsiveness of arterial endothelial cells for VEGFAthrough regulation of KDR activation and NRP1 expression. Controlssprouting angiogenesis and subsequent vertical branch formationthrougth regulation on tip cell differentiation. Negativelyregulates goblet cell differentiation in intestine and controlssecretory fat commitment through lateral inhibition in smallintestine. Plays a role during inner ear development; negativelyregulates auditory hair cell differentiation. Plays a role duringnephron development through Notch signaling pathway. Regulatesgrowth, blood pressure and energy homeostasis (By similarity).{ECO:0000250|UniProtKB:P97677, ECO:0000250|UniProtKB:Q61483,ECO:0000269|PubMed:11006133, ECO:0000269|PubMed:11581320}.

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 RTN1_DLL1


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 RTN1_DLL1


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 RTN1_DLL1


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 RTN1_DLL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRTN1C0151744Myocardial Ischemia1CTD_human
TgeneDLL1C0006118Brain Neoplasms1CTD_human
TgeneDLL1C1458155Mammary Neoplasms1CTD_human