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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: 24642

FusionGeneSummary for NOTCH2_SEC22B

check button Fusion gene summary
Fusion gene informationFusion gene name: NOTCH2_SEC22B
Fusion gene ID: 24642
HgeneTgene
Gene symbol

NOTCH2

SEC22B

Gene ID

4853

9554

Gene namenotch 2SEC22 homolog B, vesicle trafficking protein (gene/pseudogene)
SynonymsAGS2|HJCYS|hN2ERS-24|SEC22L1
Cytomap

1p12

1p12

Type of geneprotein-codingprotein-coding
Descriptionneurogenic locus notch homolog protein 2Notch homolog 2vesicle-trafficking protein SEC22bER-Golgi SNARE of 24 kDaSEC22 vesicle trafficking protein homolog BSEC22 vesicle trafficking protein-like 1
Modification date2018051920180523
UniProtAcc

Q04721

Ensembl transtripts involved in fusion geneENST00000256646, ENST00000602566, 
ENST00000493703, 
ENST00000453618, 
Fusion gene scores* DoF score9 X 8 X 8=5762 X 4 X 4=32
# samples 124
** MAII scorelog2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NOTCH2 [Title/Abstract] AND SEC22B [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
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
TCGALDLUSCTCGA-85-8277-01ANOTCH2chr1

120539620

-SEC22Bchr1

145115735

-
TCGALDPRADTCGA-XQ-A8TA-01ANOTCH2chr1

120539620

-SEC22Bchr1

145103908

-
TCGALDUCECTCGA-AP-A5FX-01ANOTCH2chr1

120529583

-SEC22Bchr1

145112373

-
* 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-3UTRENST00000256646ENST00000453618NOTCH2chr1

120539620

-SEC22Bchr1

145115735

-
5CDS-3UTRENST00000602566ENST00000453618NOTCH2chr1

120539620

-SEC22Bchr1

145115735

-
intron-3UTRENST00000493703ENST00000453618NOTCH2chr1

120539620

-SEC22Bchr1

145115735

-
5CDS-3UTRENST00000256646ENST00000453618NOTCH2chr1

120539620

-SEC22Bchr1

145103908

-
5CDS-3UTRENST00000602566ENST00000453618NOTCH2chr1

120539620

-SEC22Bchr1

145103908

-
intron-3UTRENST00000493703ENST00000453618NOTCH2chr1

120539620

-SEC22Bchr1

145103908

-
5CDS-3UTRENST00000256646ENST00000453618NOTCH2chr1

120529583

-SEC22Bchr1

145112373

-
intron-3UTRENST00000602566ENST00000453618NOTCH2chr1

120529583

-SEC22Bchr1

145112373

-
intron-3UTRENST00000493703ENST00000453618NOTCH2chr1

120529583

-SEC22Bchr1

145112373

-

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FusionProtFeatures for NOTCH2_SEC22B


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

Q04721

SEC22B

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}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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_SEC22B


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_SEC22B


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, AGRPSEC22BSTX18, STX5, GOSR1, ELAVL1, S100A16, TMED10, SEPT11, TST, TCOF1, UBE2M, STIM1, TMED9, SUCLA2, ZYX, SMARCA2, SEPT9, VAMP2, SART1, UBXN1, MPST, SERPINH1, CPS1, TMEM189, XRCC1, VAPB, TMEM9, SUCLG2, SIN3A, TACO1, VPS29, TIMM9, VCP, FN1, UBL4A, ADRB2, ATP4A, B3GAT3, RPA1, RPA2, RPA3, CUL7, OBSL1, CCDC8, RNF2, DERL1, UBAC2, STX1A, TCTN2, TCTN3, TMEM17, TMEM216, CREB3, ATP6AP2, ATL3, GOLT1B, CENPO, MCM2, USE1, SCFD2, NBAS, RINT1, BNIP1, BET1, GOSR2, KIAA1033, STX8, NAPA, UGT8, SNAP47, VTI1B, NAPG, C19orf25, ZW10, STX7, STX6, KIAA1467, SCFD1, STX10, STX12, SLC39A3, PDHA1, SDHA, TRIM25, 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 NOTCH2_SEC22B


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_SEC22B


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