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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: 24644

FusionGeneSummary for NOTCH2_SPAG17

check button Fusion gene summary
Fusion gene informationFusion gene name: NOTCH2_SPAG17
Fusion gene ID: 24644
HgeneTgene
Gene symbol

NOTCH2

SPAG17

Gene ID

4853

200162

Gene namenotch 2sperm associated antigen 17
SynonymsAGS2|HJCYS|hN2CT143|PF6
Cytomap

1p12

1p12

Type of geneprotein-codingprotein-coding
Descriptionneurogenic locus notch homolog protein 2Notch homolog 2sperm-associated antigen 17projection protein PF6 homolog
Modification date2018051920180523
UniProtAcc

Q04721

Q6Q759

Ensembl transtripts involved in fusion geneENST00000256646, ENST00000602566, 
ENST00000493703, 
ENST00000336338, 
ENST00000492438, 
Fusion gene scores* DoF score9 X 8 X 8=5767 X 6 X 4=168
# samples 127
** MAII scorelog2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NOTCH2 [Title/Abstract] AND SPAG17 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneNOTCH2

GO:0007050

cell cycle arrest

11306509

HgeneNOTCH2

GO:0007219

Notch signaling pathway

11306509|25985737

HgeneNOTCH2

GO:0010629

negative regulation of gene expression

11306509

HgeneNOTCH2

GO:0045967

negative regulation of growth rate

11306509

HgeneNOTCH2

GO:0046579

positive regulation of Ras protein signal transduction

11306509

HgeneNOTCH2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11306509


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
TCGARVHNSCTCGA-CQ-7065-01ANOTCH2chr1

120611948

-SPAG17chr1

118524024

-
* 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-shitENST00000256646ENST00000336338NOTCH2chr1

120611948

-SPAG17chr1

118524024

-
5CDS-5UTRENST00000256646ENST00000492438NOTCH2chr1

120611948

-SPAG17chr1

118524024

-
intron-3CDSENST00000602566ENST00000336338NOTCH2chr1

120611948

-SPAG17chr1

118524024

-
intron-5UTRENST00000602566ENST00000492438NOTCH2chr1

120611948

-SPAG17chr1

118524024

-
intron-3CDSENST00000493703ENST00000336338NOTCH2chr1

120611948

-SPAG17chr1

118524024

-
intron-5UTRENST00000493703ENST00000492438NOTCH2chr1

120611948

-SPAG17chr1

118524024

-

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FusionProtFeatures for NOTCH2_SPAG17


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NOTCH2

Q04721

SPAG17

Q6Q759

Functions as a receptor for membrane-bound ligandsJagged1, Jagged2 and Delta1 to regulate cell-fate determination.Upon ligand activation through the released notch intracellulardomain (NICD) it forms a transcriptional activator complex withRBPJ/RBPSUH and activates genes of the enhancer of split locus.Affects the implementation of differentiation, proliferation andapoptotic programs (By similarity). Involved in bone remodelingand homeostasis. In collaboration with RELA/p65 enhances NFATc1promoter activity and positively regulates RANKL-inducedosteoclast differentiation (PubMed:29149593). Positively regulatesself-renewal of liver cancer cells (PubMed:25985737).{ECO:0000250|UniProtKB:O35516, ECO:0000269|PubMed:21378985,ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:25985737,ECO:0000269|PubMed:29149593}. Component of the central pair apparatus of ciliaryaxonemes. Plays a critical role in the function and structure ofmotile cilia. May play a role in endochondral bone formation, mostlikely because of a function in primary cilia of chondrocytes andosteoblasts. {ECO:0000250|UniProtKB:Q5S003}.

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 NOTCH2_SPAG17


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 NOTCH2_SPAG17


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
NOTCH2CNTN1, GSK3B, JAG1, DLL1, RBPJ, MAML1, JAG2, CRKL, MYOC, SPEN, NDUFV2, NDUFV1, SEC24C, PCMT1, PSMB1, TJP1, SIN3A, PLAUR, NOTCH1, SMAD1, EGFL7, ANKRD28, LATS2, ASB14, ANKRD44, RABGGTB, ZFP41, EEF2, MLLT4, ATP2A2, CDC42, MSN, RDX, PDIA6, CST6, EPSTI1, FAM84B, IL13RA2, IL24, ITIH5, KLK5, MTA3, PSMC3IP, ST14, TMEM17, FBXL17, CDH1, VASN, LRRIQ1, AGRPSPAG17TRIM25


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 NOTCH2_SPAG17


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 NOTCH2_SPAG17


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNOTCH2C0917715Hajdu-Cheney Syndrome2CTD_human;ORPHANET
HgeneNOTCH2C0004114Astrocytoma1CTD_human
HgeneNOTCH2C0007873Uterine Cervical Neoplasm1CTD_human
HgeneNOTCH2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneNOTCH2C0017636Glioblastoma1CTD_human
HgeneNOTCH2C0024121Lung Neoplasms1CTD_human
HgeneNOTCH2C0206663Neuroectodermal Tumor, Primitive1CTD_human
HgeneNOTCH2C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneNOTCH2C1458155Mammary Neoplasms1CTD_human
HgeneNOTCH2C1857761Alagille Syndrome 21ORPHANET;UNIPROT