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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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Fusion gene ID: 24638

FusionGeneSummary for NOTCH2_CWH43

check button Fusion gene summary
Fusion gene informationFusion gene name: NOTCH2_CWH43
Fusion gene ID: 24638
HgeneTgene
Gene symbol

NOTCH2

CWH43

Gene ID

4853

80157

Gene namenotch 2cell wall biogenesis 43 C-terminal homolog
SynonymsAGS2|HJCYS|hN2CWH43-C|PGAP2IP
Cytomap

1p12

4p11

Type of geneprotein-codingprotein-coding
Descriptionneurogenic locus notch homolog protein 2Notch homolog 2PGAP2-interacting proteincell wall biogenesis protein 43 C-terminal homolog
Modification date2018051920180523
UniProtAcc

Q04721

Q9H720

Ensembl transtripts involved in fusion geneENST00000256646, ENST00000602566, 
ENST00000493703, 
ENST00000226432, 
ENST00000513409, 
Fusion gene scores* DoF score9 X 8 X 8=5763 X 3 X 3=27
# samples 123
** MAII scorelog2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NOTCH2 [Title/Abstract] AND CWH43 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Tumor suppressor 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
TCGARVLUSCTCGA-33-A4WN-01ANOTCH2chr1

120506197

-CWH43chr4

49032842

+
* 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
In-frameENST00000256646ENST00000226432NOTCH2chr1

120506197

-CWH43chr4

49032842

+
In-frameENST00000256646ENST00000513409NOTCH2chr1

120506197

-CWH43chr4

49032842

+
intron-3CDSENST00000602566ENST00000226432NOTCH2chr1

120506197

-CWH43chr4

49032842

+
intron-3CDSENST00000602566ENST00000513409NOTCH2chr1

120506197

-CWH43chr4

49032842

+
intron-3CDSENST00000493703ENST00000226432NOTCH2chr1

120506197

-CWH43chr4

49032842

+
intron-3CDSENST00000493703ENST00000513409NOTCH2chr1

120506197

-CWH43chr4

49032842

+

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FusionProtFeatures for NOTCH2_CWH43


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

Q04721

CWH43

Q9H720

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}. Involved in lipid remodeling during GPI-anchormaturation. {ECO:0000250}.

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
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134105_1436382472DomainEGF-like 3
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134144_1806382472DomainEGF-like 4
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134182_2196382472DomainEGF-like 5%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134221_2586382472DomainEGF-like 6
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134260_2966382472DomainEGF-like 7%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-113426_636382472DomainEGF-like 1
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134298_3366382472DomainEGF-like 8%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134338_3746382472DomainEGF-like 9%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134375_4136382472DomainEGF-like 10
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134415_4546382472DomainEGF-like 11%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134456_4926382472DomainEGF-like 12%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134494_5306382472DomainEGF-like 13%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134532_5686382472DomainEGF-like 14%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134570_6056382472DomainEGF-like 15%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-113464_1026382472DomainEGF-like 2
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+916607_627457700RegionRequired for function in lipid remodeling

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341645_16486382472Compositional biasNote=Poly-Ala
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341994_19976382472Compositional biasNote=Poly-Leu
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11342426_24296382472Compositional biasNote=Poly-Ser
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341025_10616382472DomainEGF-like 27%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341063_10996382472DomainEGF-like 28
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341101_11476382472DomainEGF-like 29
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341149_11856382472DomainEGF-like 30%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341187_12236382472DomainEGF-like 31%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341225_12626382472DomainEGF-like 32%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341264_13026382472DomainEGF-like 33
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341304_13436382472DomainEGF-like 34
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341374_14126382472DomainEGF-like 35
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134607_6436382472DomainEGF-like 16%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134645_6806382472DomainEGF-like 17%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134682_7186382472DomainEGF-like 18%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134720_7556382472DomainEGF-like 19
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134757_7936382472DomainEGF-like 20%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134795_8316382472DomainEGF-like 21%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134833_8716382472DomainEGF-like 22
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134873_9096382472DomainEGF-like 23%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134911_9476382472DomainEGF-like 24%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134949_9856382472DomainEGF-like 25%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-1134987_10236382472DomainEGF-like 26%3B calcium-binding
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341425_16776382472RegionNote=Negative regulatory region (NRR)
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341425_14656382472RepeatNote=LNR 1
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341466_15026382472RepeatNote=LNR 2
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341503_15446382472RepeatNote=LNR 3
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341827_18716382472RepeatNote=ANK 1
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341876_19056382472RepeatNote=ANK 2
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341909_19396382472RepeatNote=ANK 3
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341943_19726382472RepeatNote=ANK 4
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341976_20056382472RepeatNote=ANK 5
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11342009_20386382472RepeatNote=ANK 6
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341699_24716382472Topological domainCytoplasmic
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-113426_16776382472Topological domainExtracellular
HgeneNOTCH2chr1:120506197chr4:49032842ENST00000256646-11341678_16986382472TransmembraneHelical
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+916123_143457700TransmembraneHelical
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+91613_33457700TransmembraneHelical
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+916196_216457700TransmembraneHelical
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+916237_257457700TransmembraneHelical
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+916273_293457700TransmembraneHelical
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+916316_336457700TransmembraneHelical
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+916349_369457700TransmembraneHelical
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+916390_410457700TransmembraneHelical
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+91641_61457700TransmembraneHelical
TgeneCWH43chr1:120506197chr4:49032842ENST00000226432+91693_113457700TransmembraneHelical


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FusionGeneSequence for NOTCH2_CWH43


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.
>In-frame_NOTCH2_ENST00000256646_chr1_120506197_-_CWH43_ENST00000226432_chr4_49032842_+_881aa
MPALRPALLWALLALWLCCAAPAHALQCRDGTEPCVNEGMCVTYHNGTGYCKCPEGFLGETCQHRDPCEKNRCQNGGTCVAQAMLGKATC
RCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTTECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCE
TDVNECDIPGHCQHGGTCLNLPGSYQCQCPQGFTGQYCDSLTVPCAPSPCVNGGTCRQTGDFTFECNCLPGFEGSTCERNIDDCPNHRCQ
NGGVCVDGVNTYNCRCPPQWTGQFCTEDVDECLLQPNACQNGGTCANRNGGTGCVCVNGWSGDDCSENIDDCAFASCTPGSTCIDRVASF
SCMCPEGKAGLLCHLDDACISNPCHKGALCDTNPLNGQTICTCPQGYKGADCTEDVDECAMANSNPCEHAGKCVNTDGAFHCECLKGTAG
PRCEMDINECHSDPCQNDATCLDKIGGFTCLCMPGFKGVHCELEINECQSNPCVNNGQCVDKVNRFQCLCPPGFTGPVCQIDIDDCSSTP
CLNGAKCIDHPNGTECQCATGFTGVLCEENIDNCDPDPCHHGQCQDGIDSYTCICNPGYMGAICSDQIDECYSSPCLNDGRCIDLVNGYQ
CNCQPGTSGADFITILESDASKPTMGNNDLTMWLGEKLGFTTDFGPSTRTHTWGIMALSRYPIVKSEHHLLPSPEGEIAPAITLTVNISG
KLVDFVVTHFGNHEDDLDRKLQAIAVSKLLKSSSNQVIFLGTITSAPGSRDTLQLTEHGNVKDIDSTDHDRWCEYIMTRGLIRLGTARIS

>In-frame_NOTCH2_ENST00000256646_chr1_120506197_-_CWH43_ENST00000513409_chr4_49032842_+_881aa
MPALRPALLWALLALWLCCAAPAHALQCRDGTEPCVNEGMCVTYHNGTGYCKCPEGFLGETCQHRDPCEKNRCQNGGTCVAQAMLGKATC
RCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTTECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCE
TDVNECDIPGHCQHGGTCLNLPGSYQCQCPQGFTGQYCDSLTVPCAPSPCVNGGTCRQTGDFTFECNCLPGFEGSTCERNIDDCPNHRCQ
NGGVCVDGVNTYNCRCPPQWTGQFCTEDVDECLLQPNACQNGGTCANRNGGTGCVCVNGWSGDDCSENIDDCAFASCTPGSTCIDRVASF
SCMCPEGKAGLLCHLDDACISNPCHKGALCDTNPLNGQTICTCPQGYKGADCTEDVDECAMANSNPCEHAGKCVNTDGAFHCECLKGTAG
PRCEMDINECHSDPCQNDATCLDKIGGFTCLCMPGFKGVHCELEINECQSNPCVNNGQCVDKVNRFQCLCPPGFTGPVCQIDIDDCSSTP
CLNGAKCIDHPNGTECQCATGFTGVLCEENIDNCDPDPCHHGQCQDGIDSYTCICNPGYMGAICSDQIDECYSSPCLNDGRCIDLVNGYQ
CNCQPGTSGADFITILESDASKPTMGNNDLTMWLGEKLGFTTDFGPSTRTHTWGIMALSRYPIVKSEHHLLPSPEGEIAPAITLTVNISG
KLVDFVVTHFGNHEDDLDRKLQAIAVSKLLKSSSNQVIFLGTITSAPGSRDTLQLTEHGNVKDIDSTDHDRWCEYIMTRGLIRLGTARIS


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_NOTCH2_ENST00000256646_chr1_120506197_-_CWH43_ENST00000226432_chr4_49032842_+_2643nt
ATGCCCGCCCTGCGCCCCGCTCTGCTGTGGGCGCTGCTGGCGCTCTGGCTGTGCTGCGCGGCCCCCGCGCATGCATTGCAGTGTCGAGAT
GGCTATGAACCCTGTGTAAATGAAGGAATGTGTGTTACCTACCACAATGGCACAGGATACTGCAAATGTCCAGAAGGCTTCTTGGGGGAA
TATTGTCAACATCGAGACCCCTGTGAGAAGAACCGCTGCCAGAATGGTGGGACTTGTGTGGCCCAGGCCATGCTGGGGAAAGCCACGTGC
CGATGTGCCTCAGGGTTTACAGGAGAGGACTGCCAGTACTCAACATCTCATCCATGCTTTGTGTCTCGACCCTGCCTGAATGGCGGCACA
TGCCATATGCTCAGCCGGGATACCTATGAGTGCACCTGTCAAGTCGGGTTTACAGGTAAGGAGTGCCAATGGACGGATGCCTGCCTGTCT
CATCCCTGTGCAAATGGAAGTACCTGTACCACTGTGGCCAACCAGTTCTCCTGCAAATGCCTCACAGGCTTCACAGGGCAGAAATGTGAG
ACTGATGTCAATGAGTGTGACATTCCAGGACACTGCCAGCATGGTGGCACCTGCCTCAACCTGCCTGGTTCCTACCAGTGCCAGTGCCCT
CAGGGCTTCACAGGCCAGTACTGTGACAGCCTGTATGTGCCCTGTGCACCCTCACCTTGTGTCAATGGAGGCACCTGTCGGCAGACTGGT
GACTTCACTTTTGAGTGCAACTGCCTTCCAGGTTTTGAAGGGAGCACCTGTGAGAGGAATATTGATGACTGCCCTAACCACAGGTGTCAG
AATGGAGGGGTTTGTGTGGATGGGGTCAACACTTACAACTGCCGCTGTCCCCCACAATGGACAGGACAGTTCTGCACAGAGGATGTGGAT
GAATGCCTGCTGCAGCCCAATGCCTGTCAAAATGGGGGCACCTGTGCCAACCGCAATGGAGGCTATGGCTGTGTATGTGTCAACGGCTGG
AGTGGAGATGACTGCAGTGAGAACATTGATGATTGTGCCTTCGCCTCCTGTACTCCAGGCTCCACCTGCATCGACCGTGTGGCCTCCTTC
TCTTGCATGTGCCCAGAGGGGAAGGCAGGTCTCCTGTGTCATCTGGATGATGCATGCATCAGCAATCCTTGCCACAAGGGGGCACTGTGT
GACACCAACCCCCTAAATGGGCAATATATTTGCACCTGCCCACAAGGCTACAAAGGGGCTGACTGCACAGAAGATGTGGATGAATGTGCC
ATGGCCAATAGCAATCCTTGTGAGCATGCAGGAAAATGTGTGAACACGGATGGCGCCTTCCACTGTGAGTGTCTGAAGGGTTATGCAGGA
CCTCGTTGTGAGATGGACATCAATGAGTGCCATTCAGACCCCTGCCAGAATGATGCTACCTGTCTGGATAAGATTGGAGGCTTCACATGT
CTGTGCATGCCAGGTTTCAAAGGTGTGCATTGTGAATTAGAAATAAATGAATGTCAGAGCAACCCTTGTGTGAACAATGGGCAGTGTGTG
GATAAAGTCAATCGTTTCCAGTGCCTGTGTCCTCCTGGTTTCACTGGGCCAGTTTGCCAGATTGATATTGATGACTGTTCCAGTACTCCG
TGTCTGAATGGGGCAAAGTGTATCGATCACCCGAATGGCTATGAATGCCAGTGTGCCACAGGTTTCACTGGTGTGTTGTGTGAGGAGAAC
ATTGACAACTGTGACCCCGATCCTTGCCACCATGGTCAGTGTCAGGATGGTATTGATTCCTACACCTGCATCTGCAATCCCGGGTACATG
GGCGCCATCTGCAGTGACCAGATTGATGAATGTTACAGCAGCCCTTGCCTGAACGATGGTCGCTGCATTGACCTGGTCAATGGCTACCAG
TGCAACTGCCAGCCAGGCACGTCAGGTGCAGATTTCATAACAATTTTGGAGAGTGATGCTTCTAAGCCCTATATGGGGAACAATGACTTA
ACCATGTGGCTAGGGGAAAAGTTGGGTTTCTATACAGACTTTGGTCCAAGCACAAGGTATCACACTTGGGGGATTATGGCTTTGTCAAGA
TACCCAATTGTGAAATCTGAGCATCACCTTCTTCCGTCACCAGAGGGCGAGATCGCACCAGCCATCACATTGACCGTTAACATTTCGGGC
AAGCTGGTGGATTTTGTCGTGACACACTTTGGGAACCACGAAGATGACCTCGACAGGAAACTGCAGGCTATTGCTGTTTCAAAACTACTG
AAAAGTAGCTCTAATCAAGTGATATTTCTGGGATATATCACTTCAGCACCTGGCTCCAGAGATTATCTACAGCTCACTGAACATGGCAAT
GTGAAGGATATCGACAGCACTGATCATGACAGATGGTGTGAATACATTATGTATCGAGGGCTGATCAGGTTGGGTTATGCAAGAATCTCC
CATGCTGAACTGAGTGATTCAGAAATTCAGATGGCAAAATTTAGGATCCCTGATGACCCCACTAATTATAGAGACAACCAGAAAGTGGTC
ATAGACCACAGAGAAGTTTCTGAGAAAATTCATTTTAATCCCAGATTTGGATCCTACAAAGAAGGACACAATTATGAAAACAACCATCAT

>In-frame_NOTCH2_ENST00000256646_chr1_120506197_-_CWH43_ENST00000513409_chr4_49032842_+_2643nt
ATGCCCGCCCTGCGCCCCGCTCTGCTGTGGGCGCTGCTGGCGCTCTGGCTGTGCTGCGCGGCCCCCGCGCATGCATTGCAGTGTCGAGAT
GGCTATGAACCCTGTGTAAATGAAGGAATGTGTGTTACCTACCACAATGGCACAGGATACTGCAAATGTCCAGAAGGCTTCTTGGGGGAA
TATTGTCAACATCGAGACCCCTGTGAGAAGAACCGCTGCCAGAATGGTGGGACTTGTGTGGCCCAGGCCATGCTGGGGAAAGCCACGTGC
CGATGTGCCTCAGGGTTTACAGGAGAGGACTGCCAGTACTCAACATCTCATCCATGCTTTGTGTCTCGACCCTGCCTGAATGGCGGCACA
TGCCATATGCTCAGCCGGGATACCTATGAGTGCACCTGTCAAGTCGGGTTTACAGGTAAGGAGTGCCAATGGACGGATGCCTGCCTGTCT
CATCCCTGTGCAAATGGAAGTACCTGTACCACTGTGGCCAACCAGTTCTCCTGCAAATGCCTCACAGGCTTCACAGGGCAGAAATGTGAG
ACTGATGTCAATGAGTGTGACATTCCAGGACACTGCCAGCATGGTGGCACCTGCCTCAACCTGCCTGGTTCCTACCAGTGCCAGTGCCCT
CAGGGCTTCACAGGCCAGTACTGTGACAGCCTGTATGTGCCCTGTGCACCCTCACCTTGTGTCAATGGAGGCACCTGTCGGCAGACTGGT
GACTTCACTTTTGAGTGCAACTGCCTTCCAGGTTTTGAAGGGAGCACCTGTGAGAGGAATATTGATGACTGCCCTAACCACAGGTGTCAG
AATGGAGGGGTTTGTGTGGATGGGGTCAACACTTACAACTGCCGCTGTCCCCCACAATGGACAGGACAGTTCTGCACAGAGGATGTGGAT
GAATGCCTGCTGCAGCCCAATGCCTGTCAAAATGGGGGCACCTGTGCCAACCGCAATGGAGGCTATGGCTGTGTATGTGTCAACGGCTGG
AGTGGAGATGACTGCAGTGAGAACATTGATGATTGTGCCTTCGCCTCCTGTACTCCAGGCTCCACCTGCATCGACCGTGTGGCCTCCTTC
TCTTGCATGTGCCCAGAGGGGAAGGCAGGTCTCCTGTGTCATCTGGATGATGCATGCATCAGCAATCCTTGCCACAAGGGGGCACTGTGT
GACACCAACCCCCTAAATGGGCAATATATTTGCACCTGCCCACAAGGCTACAAAGGGGCTGACTGCACAGAAGATGTGGATGAATGTGCC
ATGGCCAATAGCAATCCTTGTGAGCATGCAGGAAAATGTGTGAACACGGATGGCGCCTTCCACTGTGAGTGTCTGAAGGGTTATGCAGGA
CCTCGTTGTGAGATGGACATCAATGAGTGCCATTCAGACCCCTGCCAGAATGATGCTACCTGTCTGGATAAGATTGGAGGCTTCACATGT
CTGTGCATGCCAGGTTTCAAAGGTGTGCATTGTGAATTAGAAATAAATGAATGTCAGAGCAACCCTTGTGTGAACAATGGGCAGTGTGTG
GATAAAGTCAATCGTTTCCAGTGCCTGTGTCCTCCTGGTTTCACTGGGCCAGTTTGCCAGATTGATATTGATGACTGTTCCAGTACTCCG
TGTCTGAATGGGGCAAAGTGTATCGATCACCCGAATGGCTATGAATGCCAGTGTGCCACAGGTTTCACTGGTGTGTTGTGTGAGGAGAAC
ATTGACAACTGTGACCCCGATCCTTGCCACCATGGTCAGTGTCAGGATGGTATTGATTCCTACACCTGCATCTGCAATCCCGGGTACATG
GGCGCCATCTGCAGTGACCAGATTGATGAATGTTACAGCAGCCCTTGCCTGAACGATGGTCGCTGCATTGACCTGGTCAATGGCTACCAG
TGCAACTGCCAGCCAGGCACGTCAGGTGCAGATTTCATAACAATTTTGGAGAGTGATGCTTCTAAGCCCTATATGGGGAACAATGACTTA
ACCATGTGGCTAGGGGAAAAGTTGGGTTTCTATACAGACTTTGGTCCAAGCACAAGGTATCACACTTGGGGGATTATGGCTTTGTCAAGA
TACCCAATTGTGAAATCTGAGCATCACCTTCTTCCGTCACCAGAGGGCGAGATCGCACCAGCCATCACATTGACCGTTAACATTTCGGGC
AAGCTGGTGGATTTTGTCGTGACACACTTTGGGAACCACGAAGATGACCTCGACAGGAAACTGCAGGCTATTGCTGTTTCAAAACTACTG
AAAAGTAGCTCTAATCAAGTGATATTTCTGGGATATATCACTTCAGCACCTGGCTCCAGAGATTATCTACAGCTCACTGAACATGGCAAT
GTGAAGGATATCGACAGCACTGATCATGACAGATGGTGTGAATACATTATGTATCGAGGGCTGATCAGGTTGGGTTATGCAAGAATCTCC
CATGCTGAACTGAGTGATTCAGAAATTCAGATGGCAAAATTTAGGATCCCTGATGACCCCACTAATTATAGAGACAACCAGAAAGTGGTC
ATAGACCACAGAGAAGTTTCTGAGAAAATTCATTTTAATCCCAGATTTGGATCCTACAAAGAAGGACACAATTATGAAAACAACCATCAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_NOTCH2_ENST00000256646_chr1_120506197_-_CWH43_ENST00000226432_chr4_49032842_+_3052nt
AAACTTCGGGCGGCGGCTGAGGCGGCGGCCGAGGAGCGGCGGACTCGGGGCGCGGGGAGTCGAGGCATTTGCGCCTGGGCTTCGGAGCGT
AGCGCCAGGGCCTGAGCCTTTGAAGCAGGAGGAGGGGAGGAGAGAGTGGGGCTCCTCTATCGGGACCCCCTCCCCATGTGGATCTGCCCA
GGCGGCGGCGGCGGCGGCGGAGGAGGAGGCGACCGAGAAGATGCCCGCCCTGCGCCCCGCTCTGCTGTGGGCGCTGCTGGCGCTCTGGCT
GTGCTGCGCGGCCCCCGCGCATGCATTGCAGTGTCGAGATGGCTATGAACCCTGTGTAAATGAAGGAATGTGTGTTACCTACCACAATGG
CACAGGATACTGCAAATGTCCAGAAGGCTTCTTGGGGGAATATTGTCAACATCGAGACCCCTGTGAGAAGAACCGCTGCCAGAATGGTGG
GACTTGTGTGGCCCAGGCCATGCTGGGGAAAGCCACGTGCCGATGTGCCTCAGGGTTTACAGGAGAGGACTGCCAGTACTCAACATCTCA
TCCATGCTTTGTGTCTCGACCCTGCCTGAATGGCGGCACATGCCATATGCTCAGCCGGGATACCTATGAGTGCACCTGTCAAGTCGGGTT
TACAGGTAAGGAGTGCCAATGGACGGATGCCTGCCTGTCTCATCCCTGTGCAAATGGAAGTACCTGTACCACTGTGGCCAACCAGTTCTC
CTGCAAATGCCTCACAGGCTTCACAGGGCAGAAATGTGAGACTGATGTCAATGAGTGTGACATTCCAGGACACTGCCAGCATGGTGGCAC
CTGCCTCAACCTGCCTGGTTCCTACCAGTGCCAGTGCCCTCAGGGCTTCACAGGCCAGTACTGTGACAGCCTGTATGTGCCCTGTGCACC
CTCACCTTGTGTCAATGGAGGCACCTGTCGGCAGACTGGTGACTTCACTTTTGAGTGCAACTGCCTTCCAGGTTTTGAAGGGAGCACCTG
TGAGAGGAATATTGATGACTGCCCTAACCACAGGTGTCAGAATGGAGGGGTTTGTGTGGATGGGGTCAACACTTACAACTGCCGCTGTCC
CCCACAATGGACAGGACAGTTCTGCACAGAGGATGTGGATGAATGCCTGCTGCAGCCCAATGCCTGTCAAAATGGGGGCACCTGTGCCAA
CCGCAATGGAGGCTATGGCTGTGTATGTGTCAACGGCTGGAGTGGAGATGACTGCAGTGAGAACATTGATGATTGTGCCTTCGCCTCCTG
TACTCCAGGCTCCACCTGCATCGACCGTGTGGCCTCCTTCTCTTGCATGTGCCCAGAGGGGAAGGCAGGTCTCCTGTGTCATCTGGATGA
TGCATGCATCAGCAATCCTTGCCACAAGGGGGCACTGTGTGACACCAACCCCCTAAATGGGCAATATATTTGCACCTGCCCACAAGGCTA
CAAAGGGGCTGACTGCACAGAAGATGTGGATGAATGTGCCATGGCCAATAGCAATCCTTGTGAGCATGCAGGAAAATGTGTGAACACGGA
TGGCGCCTTCCACTGTGAGTGTCTGAAGGGTTATGCAGGACCTCGTTGTGAGATGGACATCAATGAGTGCCATTCAGACCCCTGCCAGAA
TGATGCTACCTGTCTGGATAAGATTGGAGGCTTCACATGTCTGTGCATGCCAGGTTTCAAAGGTGTGCATTGTGAATTAGAAATAAATGA
ATGTCAGAGCAACCCTTGTGTGAACAATGGGCAGTGTGTGGATAAAGTCAATCGTTTCCAGTGCCTGTGTCCTCCTGGTTTCACTGGGCC
AGTTTGCCAGATTGATATTGATGACTGTTCCAGTACTCCGTGTCTGAATGGGGCAAAGTGTATCGATCACCCGAATGGCTATGAATGCCA
GTGTGCCACAGGTTTCACTGGTGTGTTGTGTGAGGAGAACATTGACAACTGTGACCCCGATCCTTGCCACCATGGTCAGTGTCAGGATGG
TATTGATTCCTACACCTGCATCTGCAATCCCGGGTACATGGGCGCCATCTGCAGTGACCAGATTGATGAATGTTACAGCAGCCCTTGCCT
GAACGATGGTCGCTGCATTGACCTGGTCAATGGCTACCAGTGCAACTGCCAGCCAGGCACGTCAGGTGCAGATTTCATAACAATTTTGGA
GAGTGATGCTTCTAAGCCCTATATGGGGAACAATGACTTAACCATGTGGCTAGGGGAAAAGTTGGGTTTCTATACAGACTTTGGTCCAAG
CACAAGGTATCACACTTGGGGGATTATGGCTTTGTCAAGATACCCAATTGTGAAATCTGAGCATCACCTTCTTCCGTCACCAGAGGGCGA
GATCGCACCAGCCATCACATTGACCGTTAACATTTCGGGCAAGCTGGTGGATTTTGTCGTGACACACTTTGGGAACCACGAAGATGACCT
CGACAGGAAACTGCAGGCTATTGCTGTTTCAAAACTACTGAAAAGTAGCTCTAATCAAGTGATATTTCTGGGATATATCACTTCAGCACC
TGGCTCCAGAGATTATCTACAGCTCACTGAACATGGCAATGTGAAGGATATCGACAGCACTGATCATGACAGATGGTGTGAATACATTAT
GTATCGAGGGCTGATCAGGTTGGGTTATGCAAGAATCTCCCATGCTGAACTGAGTGATTCAGAAATTCAGATGGCAAAATTTAGGATCCC
TGATGACCCCACTAATTATAGAGACAACCAGAAAGTGGTCATAGACCACAGAGAAGTTTCTGAGAAAATTCATTTTAATCCCAGATTTGG
ATCCTACAAAGAAGGACACAATTATGAAAACAACCATCATTTTCATATGAATACTCCCAAATACTTTTTATGAAACATTTAAAACAAGAA
GTTATTGGCTGGGAAAATCTAAGAAAAAAAGTATGTAAGATAAAAAGAAGAGATTAATGAAAGTGGGAAAATACACATGAAGAACCTCAA

>In-frame_NOTCH2_ENST00000256646_chr1_120506197_-_CWH43_ENST00000513409_chr4_49032842_+_3049nt
AAACTTCGGGCGGCGGCTGAGGCGGCGGCCGAGGAGCGGCGGACTCGGGGCGCGGGGAGTCGAGGCATTTGCGCCTGGGCTTCGGAGCGT
AGCGCCAGGGCCTGAGCCTTTGAAGCAGGAGGAGGGGAGGAGAGAGTGGGGCTCCTCTATCGGGACCCCCTCCCCATGTGGATCTGCCCA
GGCGGCGGCGGCGGCGGCGGAGGAGGAGGCGACCGAGAAGATGCCCGCCCTGCGCCCCGCTCTGCTGTGGGCGCTGCTGGCGCTCTGGCT
GTGCTGCGCGGCCCCCGCGCATGCATTGCAGTGTCGAGATGGCTATGAACCCTGTGTAAATGAAGGAATGTGTGTTACCTACCACAATGG
CACAGGATACTGCAAATGTCCAGAAGGCTTCTTGGGGGAATATTGTCAACATCGAGACCCCTGTGAGAAGAACCGCTGCCAGAATGGTGG
GACTTGTGTGGCCCAGGCCATGCTGGGGAAAGCCACGTGCCGATGTGCCTCAGGGTTTACAGGAGAGGACTGCCAGTACTCAACATCTCA
TCCATGCTTTGTGTCTCGACCCTGCCTGAATGGCGGCACATGCCATATGCTCAGCCGGGATACCTATGAGTGCACCTGTCAAGTCGGGTT
TACAGGTAAGGAGTGCCAATGGACGGATGCCTGCCTGTCTCATCCCTGTGCAAATGGAAGTACCTGTACCACTGTGGCCAACCAGTTCTC
CTGCAAATGCCTCACAGGCTTCACAGGGCAGAAATGTGAGACTGATGTCAATGAGTGTGACATTCCAGGACACTGCCAGCATGGTGGCAC
CTGCCTCAACCTGCCTGGTTCCTACCAGTGCCAGTGCCCTCAGGGCTTCACAGGCCAGTACTGTGACAGCCTGTATGTGCCCTGTGCACC
CTCACCTTGTGTCAATGGAGGCACCTGTCGGCAGACTGGTGACTTCACTTTTGAGTGCAACTGCCTTCCAGGTTTTGAAGGGAGCACCTG
TGAGAGGAATATTGATGACTGCCCTAACCACAGGTGTCAGAATGGAGGGGTTTGTGTGGATGGGGTCAACACTTACAACTGCCGCTGTCC
CCCACAATGGACAGGACAGTTCTGCACAGAGGATGTGGATGAATGCCTGCTGCAGCCCAATGCCTGTCAAAATGGGGGCACCTGTGCCAA
CCGCAATGGAGGCTATGGCTGTGTATGTGTCAACGGCTGGAGTGGAGATGACTGCAGTGAGAACATTGATGATTGTGCCTTCGCCTCCTG
TACTCCAGGCTCCACCTGCATCGACCGTGTGGCCTCCTTCTCTTGCATGTGCCCAGAGGGGAAGGCAGGTCTCCTGTGTCATCTGGATGA
TGCATGCATCAGCAATCCTTGCCACAAGGGGGCACTGTGTGACACCAACCCCCTAAATGGGCAATATATTTGCACCTGCCCACAAGGCTA
CAAAGGGGCTGACTGCACAGAAGATGTGGATGAATGTGCCATGGCCAATAGCAATCCTTGTGAGCATGCAGGAAAATGTGTGAACACGGA
TGGCGCCTTCCACTGTGAGTGTCTGAAGGGTTATGCAGGACCTCGTTGTGAGATGGACATCAATGAGTGCCATTCAGACCCCTGCCAGAA
TGATGCTACCTGTCTGGATAAGATTGGAGGCTTCACATGTCTGTGCATGCCAGGTTTCAAAGGTGTGCATTGTGAATTAGAAATAAATGA
ATGTCAGAGCAACCCTTGTGTGAACAATGGGCAGTGTGTGGATAAAGTCAATCGTTTCCAGTGCCTGTGTCCTCCTGGTTTCACTGGGCC
AGTTTGCCAGATTGATATTGATGACTGTTCCAGTACTCCGTGTCTGAATGGGGCAAAGTGTATCGATCACCCGAATGGCTATGAATGCCA
GTGTGCCACAGGTTTCACTGGTGTGTTGTGTGAGGAGAACATTGACAACTGTGACCCCGATCCTTGCCACCATGGTCAGTGTCAGGATGG
TATTGATTCCTACACCTGCATCTGCAATCCCGGGTACATGGGCGCCATCTGCAGTGACCAGATTGATGAATGTTACAGCAGCCCTTGCCT
GAACGATGGTCGCTGCATTGACCTGGTCAATGGCTACCAGTGCAACTGCCAGCCAGGCACGTCAGGTGCAGATTTCATAACAATTTTGGA
GAGTGATGCTTCTAAGCCCTATATGGGGAACAATGACTTAACCATGTGGCTAGGGGAAAAGTTGGGTTTCTATACAGACTTTGGTCCAAG
CACAAGGTATCACACTTGGGGGATTATGGCTTTGTCAAGATACCCAATTGTGAAATCTGAGCATCACCTTCTTCCGTCACCAGAGGGCGA
GATCGCACCAGCCATCACATTGACCGTTAACATTTCGGGCAAGCTGGTGGATTTTGTCGTGACACACTTTGGGAACCACGAAGATGACCT
CGACAGGAAACTGCAGGCTATTGCTGTTTCAAAACTACTGAAAAGTAGCTCTAATCAAGTGATATTTCTGGGATATATCACTTCAGCACC
TGGCTCCAGAGATTATCTACAGCTCACTGAACATGGCAATGTGAAGGATATCGACAGCACTGATCATGACAGATGGTGTGAATACATTAT
GTATCGAGGGCTGATCAGGTTGGGTTATGCAAGAATCTCCCATGCTGAACTGAGTGATTCAGAAATTCAGATGGCAAAATTTAGGATCCC
TGATGACCCCACTAATTATAGAGACAACCAGAAAGTGGTCATAGACCACAGAGAAGTTTCTGAGAAAATTCATTTTAATCCCAGATTTGG
ATCCTACAAAGAAGGACACAATTATGAAAACAACCATCATTTTCATATGAATACTCCCAAATACTTTTTATGAAACATTTAAAACAAGAA
GTTATTGGCTGGGAAAATCTAAGAAAAAAAGTATGTAAGATAAAAAGAAGAGATTAATGAAAGTGGGAAAATACACATGAAGAACCTCAA


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FusionGenePPI for NOTCH2_CWH43


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, AGRPCWH43


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_CWH43


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_CWH43


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