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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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Fusion gene ID: 24648

FusionGeneSummary for NOTCH3_DEFB132

check button Fusion gene summary
Fusion gene informationFusion gene name: NOTCH3_DEFB132
Fusion gene ID: 24648
HgeneTgene
Gene symbol

NOTCH3

DEFB132

Gene ID

4854

400830

Gene namenotch 3defensin beta 132
SynonymsCADASIL|CADASIL1|CASIL|IMF2|LMNSBD-32|DEFB-32|DEFB32|HEL-75|KFLL827|UNQ827
Cytomap

19p13.12

20p13

Type of geneprotein-codingprotein-coding
Descriptionneurogenic locus notch homolog protein 3Notch homolog 3beta-defensin 132RP5-1103G7.6beta-defensin 32defensin HEL-75defensin, beta 32
Modification date2018052720180329
UniProtAcc

Q9UM47

Q7Z7B7

Ensembl transtripts involved in fusion geneENST00000263388, ENST00000382376, 
Fusion gene scores* DoF score8 X 6 X 7=3361 X 1 X 1=1
# samples 81
** MAII scorelog2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: NOTCH3 [Title/Abstract] AND DEFB132 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor 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
TgeneDEFB132

GO:0031640

killing of cells of other organism

18343807


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-34-5236-01ANOTCH3chr19

15278060

-DEFB132chr20

239718

+
* 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-frameENST00000263388ENST00000382376NOTCH3chr19

15278060

-DEFB132chr20

239718

+

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FusionProtFeatures for NOTCH3_DEFB132


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NOTCH3

Q9UM47

DEFB132

Q7Z7B7

Functions as a receptor for membrane-bound ligandsJagged1, Jagged2 and Delta1 to regulate cell-fate determination(PubMed:15350543). Upon ligand activation through the releasednotch intracellular domain (NICD) it forms a transcriptionalactivator complex with RBPJ/RBPSUH and activates genes of theenhancer of split locus. Affects the implementation ofdifferentiation, proliferation and apoptotic programs (Bysimilarity). {ECO:0000250|UniProtKB:Q9R172,ECO:0000269|PubMed:15350543}. Has antibacterial activity. {ECO:0000305}.

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
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331000_103417872322DomainEGF-like 26
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331047_108217872322DomainEGF-like 27
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331084_112017872322DomainEGF-like 28
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331122_115817872322DomainEGF-like 29%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331160_120317872322DomainEGF-like 30%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933119_15617872322DomainEGF-like 3
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331205_124417872322DomainEGF-like 31
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331246_128717872322DomainEGF-like 32
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331289_132517872322DomainEGF-like 33
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331335_137317872322DomainEGF-like 34
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933158_19517872322DomainEGF-like 4%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933197_23417872322DomainEGF-like 5
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933236_27217872322DomainEGF-like 6%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933274_31217872322DomainEGF-like 7
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933314_35017872322DomainEGF-like 8%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933351_38917872322DomainEGF-like 9
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933391_42917872322DomainEGF-like 10%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-293340_7717872322DomainEGF-like 1
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933431_46717872322DomainEGF-like 11%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933469_50517872322DomainEGF-like 12%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933507_54317872322DomainEGF-like 13%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933545_58017872322DomainEGF-like 14%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933582_61817872322DomainEGF-like 15%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933620_65517872322DomainEGF-like 16%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933657_69317872322DomainEGF-like 17%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933695_73017872322DomainEGF-like 18
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933734_77017872322DomainEGF-like 19
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933771_80817872322DomainEGF-like 20
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-293378_11817872322DomainEGF-like 2
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933810_84717872322DomainEGF-like 21%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933849_88517872322DomainEGF-like 22%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933887_92217872322DomainEGF-like 23%3B calcium-binding
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933924_96017872322DomainEGF-like 24
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-2933962_99817872322DomainEGF-like 25
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331387_142717872322RepeatNote=LNR 1
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331428_145817872322RepeatNote=LNR 2
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331467_150517872322RepeatNote=LNR 3
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-293340_164317872322Topological domainExtracellular
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331644_166417872322TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331838_186717872322RepeatNote=ANK 1
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331871_190117872322RepeatNote=ANK 2
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331905_193417872322RepeatNote=ANK 3
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331938_196717872322RepeatNote=ANK 4
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331971_200017872322RepeatNote=ANK 5
HgeneNOTCH3chr19:15278060chr20:239718ENST00000263388-29331665_232117872322Topological domainCytoplasmic


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FusionGeneSequence for NOTCH3_DEFB132


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_NOTCH3_ENST00000263388_chr19_15278060_-_DEFB132_ENST00000382376_chr20_239718_+_1864aa
MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLDGSPCANGGRCTQLPSREAACLCPPGWVGERCQLEDPCHSGPCAGR
GVCQSSVVAGTARFSCRCPRGFRGPDCSLPDPCLSSPCAHGARCSVGPDGRFLCSCPPGYQGRSCRSDVDECRVGEPCRHGGTCLNTPGS
FRCQCPAGYTGPLCENPAVPCAPSPCRNGGTCRQSGDLTYDCACLPGFEGQNCEVNVDDCPGHRCLNGGTCVDGVNTYNCQCPPEWTGQF
CTEDVDECQLQPNACHNGGTCFNTLGGHSCVCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCACPMGKTGLLCHLDDACVSNPC
HEDAICDTNPVNGRAICTCPPGFTGGACDQDVDECSIGANPCEHLGRCVNTQGSFLCQCGRGYTGPRCETDVNECLSGPCRNQATCLDRI
GQFTCICMAGFTGTYCEVDIDECQSSPCVNGGVCKDRVNGFSCTCPSGFSGSTCQLDVDECASTPCRNGAKCVDQPDGYECRCAEGFEGT
LCDRNVDDCSPDPCHHGRCVDGIASFSCACAPGYTGTRCESQVDECRSQPCRHGGKCLDLVDKYLCRCPSGTTGVNCEVNIDDCASNPCT
FGVCRDGINRYDCVCQPGFTGPLCNVEINECASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLPPSHPCAHEPCSHGICYDAPGGFRCVC
EPGWSGPRCSQSLARDACESQPCRAGGTCSSDGMGFHCTCPPGVQGRQCELLSPCTPNPCEHGGRCESAPGQLPVCSCPQGWQGPRCQQD
VDECAGPAPCGPHGICTNLAGSFSCTCHGGYTGPSCDQDINDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGT
CTDHVASFTCTCPPGYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQHEADPCLSRPCLHGGVCSAAHPGFRCTCLE
SFTGPQCQTLVDWCSRQPCQNGGRCVQTGAYCLCPPGWSGRLCDIRSLPCREAAAQIGVRLEQLCQAGGQCVDEDSSHYCVCPEGRTGSH
CEQEVDPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCEDDVDECASQPCQHGGSCIDLVARYLCSCPPGTLGVLCEINEDDCGPGPPL
DSGPRCLHNGTCVDLVGGFRCTCPPGYTGLRCEADINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQ
CRPSPGPGGGLTFTCHCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLSGPSCRSFPGSPPGASNASCAAAPCLHGGSC
RPAPLAPFFRCACAQGWTGPRCEAPAAAPEVSEEPRCPRAACQAKRGDQRCDRECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRLFNNS
RCDPACSSPACLYDNFDCHAGGRERTCNPVYEKYCADHFADGRCDQGCNTEECGWDGLDCASEVPALLARGVLVLTVLLPPEELLRSSAD
FLQRLSAILRTSLRFRLDAHGQAMVFPYHRPSPGSEPRARRELAPEVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADYLGALSAVERL
DFPYPLRDVRGEPLEPPEPSVPLLPLLVAGAVLLLVILVLGVMVARRKREHSTLWFPEGFSLHKDVASGHKGRREPVGQDALGMKNMAKG
ESLMGEVATDWMDTECPEAKRLKVEEPGMGAEEAVDCRQWTQHHLVAADIRVAPAMALTPPQGDADADGMDVNVRGPASAGGSKCVSNTP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_NOTCH3_ENST00000263388_chr19_15278060_-_DEFB132_ENST00000382376_chr20_239718_+_5592nt
ATGGGGCCGGGGGCCCGTGGCCGCCGCCGCCGCCGTCGCCCGATGTCGCCGCCACCGCCACCGCCACCCGTGCGGGCGCTGCCCCTGCTG
CTGCTGCTAGCGGGGCCGGGGGCTGCAGCCCCCCCTTGCCTGGACGGAAGCCCGTGTGCAAATGGAGGTCGTTGCACCCAGCTGCCCTCC
CGGGAGGCTGCCTGCCTGTGCCCGCCTGGCTGGGTGGGTGAGCGGTGTCAGCTGGAGGACCCCTGTCACTCAGGCCCCTGTGCTGGCCGT
GGTGTCTGCCAGAGTTCAGTGGTGGCTGGCACCGCCCGATTCTCATGCCGGTGCCCCCGTGGCTTCCGAGGCCCTGACTGCTCCCTGCCA
GATCCCTGCCTCAGCAGCCCTTGTGCCCACGGTGCCCGCTGCTCAGTGGGGCCCGATGGACGCTTCCTCTGCTCCTGCCCACCTGGCTAC
CAGGGCCGCAGCTGCCGAAGCGACGTGGATGAGTGCCGGGTGGGTGAGCCCTGCCGCCATGGTGGCACCTGCCTCAACACACCTGGCTCC
TTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCACCCTCACCATGCCGTAACGGGGGC
ACCTGCAGGCAGAGTGGCGACCTCACTTACGACTGTGCCTGTCTTCCTGGGTTTGAGGGTCAGAATTGTGAAGTGAACGTGGACGACTGT
CCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGATGGCGTCAACACCTATAACTGCCAGTGCCCTCCTGAGTGGACAGGCCAGTTC
TGCACGGAGGACGTGGATGAGTGTCAGCTGCAGCCCAACGCCTGCCACAATGGGGGTACCTGCTTCAACACGCTGGGTGGCCACAGCTGC
GTGTGTGTCAATGGCTGGACAGGCGAGAGCTGCAGTCAGAATATCGATGACTGTGCCACAGCCGTGTGCTTCCATGGGGCCACCTGCCAT
GACCGCGTGGCTTCTTTCTACTGTGCCTGCCCCATGGGCAAGACTGGCCTCCTGTGTCACCTGGATGACGCCTGTGTCAGCAACCCCTGC
CACGAGGATGCTATCTGTGACACAAATCCGGTGAACGGCCGGGCCATTTGCACCTGTCCTCCCGGCTTCACGGGTGGGGCATGTGACCAG
GATGTGGACGAGTGCTCTATCGGCGCCAACCCCTGCGAGCACTTGGGCAGGTGCGTGAACACGCAGGGCTCCTTCCTGTGCCAGTGCGGT
CGTGGCTACACTGGACCTCGCTGTGAGACCGATGTCAACGAGTGTCTGTCGGGGCCCTGCCGAAACCAGGCCACGTGCCTCGACCGCATA
GGCCAGTTCACCTGTATCTGTATGGCAGGCTTCACAGGAACCTATTGCGAGGTGGACATTGACGAGTGTCAGAGTAGCCCCTGTGTCAAC
GGTGGGGTCTGCAAGGACCGAGTCAATGGCTTCAGCTGCACCTGCCCCTCGGGCTTCAGCGGCTCCACGTGTCAGCTGGACGTGGACGAA
TGCGCCAGCACGCCCTGCAGGAATGGCGCCAAATGCGTGGACCAGCCCGATGGCTACGAGTGCCGCTGTGCCGAGGGCTTTGAGGGCACG
CTGTGTGATCGCAACGTGGACGACTGCTCCCCTGACCCATGCCACCATGGTCGCTGCGTGGATGGCATCGCCAGCTTCTCATGTGCCTGT
GCTCCTGGCTACACGGGCACACGCTGCGAGAGCCAGGTGGACGAATGCCGCAGCCAGCCCTGCCGCCATGGCGGCAAATGCCTAGACCTG
GTGGACAAGTACCTCTGCCGCTGCCCTTCTGGGACCACAGGTGTGAACTGCGAAGTGAACATTGACGACTGTGCCAGCAACCCCTGCACC
TTTGGAGTCTGCCGTGATGGCATCAACCGCTACGACTGTGTCTGCCAACCTGGCTTCACAGGGCCCCTTTGTAACGTGGAGATCAATGAG
TGTGCTTCCAGCCCATGCGGCGAGGGAGGTTCCTGTGTGGATGGGGAAAATGGCTTCCGCTGCCTCTGCCCGCCTGGCTCCTTGCCCCCA
CTCTGCCTCCCCCCGAGCCATCCCTGTGCCCATGAGCCCTGCAGTCACGGCATCTGCTATGATGCACCTGGCGGGTTCCGCTGTGTGTGT
GAGCCTGGCTGGAGTGGCCCCCGCTGCAGCCAGAGCCTGGCCCGAGACGCCTGTGAGTCCCAGCCGTGCAGGGCCGGTGGGACATGCAGC
AGCGATGGAATGGGTTTCCACTGCACCTGCCCGCCTGGTGTCCAGGGACGTCAGTGTGAACTCCTCTCCCCCTGCACCCCGAACCCCTGT
GAGCATGGGGGCCGCTGCGAGTCTGCCCCTGGCCAGCTGCCTGTCTGCTCCTGCCCCCAGGGCTGGCAAGGCCCACGATGCCAGCAGGAT
GTGGACGAGTGTGCTGGCCCCGCACCCTGTGGCCCTCATGGTATCTGCACCAACCTGGCAGGGAGTTTCAGCTGCACCTGCCATGGAGGG
TACACTGGCCCTTCCTGCGATCAGGACATCAATGACTGTGACCCCAACCCATGCCTGAACGGTGGCTCGTGCCAAGACGGCGTGGGCTCC
TTTTCCTGCTCCTGCCTCCCTGGTTTCGCCGGCCCACGATGCGCCCGCGATGTGGATGAGTGCCTGAGCAACCCCTGCGGCCCGGGCACC
TGTACCGACCACGTGGCCTCCTTCACCTGCACCTGCCCGCCAGGCTACGGAGGCTTCCACTGCGAACAGGACCTGCCCGACTGCAGCCCC
AGCTCCTGCTTCAATGGCGGGACCTGTGTGGACGGCGTGAACTCGTTCAGCTGCCTGTGCCGTCCCGGCTACACAGGAGCCCACTGCCAA
CATGAGGCAGACCCCTGCCTCTCGCGGCCCTGCCTACACGGGGGCGTCTGCAGCGCCGCCCACCCTGGCTTCCGCTGCACCTGCCTCGAG
AGCTTCACGGGCCCGCAGTGCCAGACGCTGGTGGATTGGTGCAGCCGCCAGCCTTGTCAAAACGGGGGTCGCTGCGTCCAGACTGGGGCC
TATTGCCTTTGTCCCCCTGGATGGAGCGGACGCCTCTGTGACATCCGAAGCTTGCCCTGCAGGGAGGCCGCAGCCCAGATCGGGGTGCGG
CTGGAGCAGCTGTGTCAGGCGGGTGGGCAGTGTGTGGATGAAGACAGCTCCCACTACTGCGTGTGCCCAGAGGGCCGTACTGGTAGCCAC
TGTGAGCAGGAGGTGGACCCCTGCTTGGCCCAGCCCTGCCAGCATGGGGGGACCTGCCGTGGCTATATGGGGGGCTACATGTGTGAGTGT
CTTCCTGGCTACAATGGTGATAACTGTGAGGACGACGTGGACGAGTGTGCCTCCCAGCCCTGCCAGCACGGGGGTTCATGCATTGACCTC
GTGGCCCGCTATCTCTGCTCCTGTCCCCCAGGAACGCTGGGGGTGCTCTGCGAGATTAATGAGGATGACTGCGGCCCAGGCCCACCGCTG
GACTCAGGGCCCCGGTGCCTACACAATGGCACCTGCGTGGACCTGGTGGGTGGTTTCCGCTGCACCTGTCCCCCAGGATACACTGGTTTG
CGCTGCGAGGCAGACATCAATGAGTGTCGCTCAGGTGCCTGCCACGCGGCACACACCCGGGACTGCCTGCAGGACCCAGGCGGAGGTTTC
CGTTGCCTTTGTCATGCTGGCTTCTCAGGTCCTCGCTGTCAGACTGTCCTGTCTCCCTGCGAGTCCCAGCCATGCCAGCATGGAGGCCAG
TGCCGTCCTAGCCCGGGTCCTGGGGGTGGGCTGACCTTCACCTGTCACTGTGCCCAGCCGTTCTGGGGTCCGCGTTGCGAGCGGGTGGCG
CGCTCCTGCCGGGAGCTGCAGTGCCCGGTGGGCGTCCCATGCCAGCAGACGCCCCGCGGGCCGCGCTGCGCCTGCCCCCCAGGGTTGTCG
GGACCCTCCTGCCGCAGCTTCCCGGGGTCGCCGCCGGGGGCCAGCAACGCCAGCTGCGCGGCCGCCCCCTGTCTCCACGGGGGCTCCTGC
CGCCCCGCGCCGCTCGCGCCCTTCTTCCGCTGCGCTTGCGCGCAGGGCTGGACCGGGCCGCGCTGCGAGGCGCCCGCCGCGGCACCCGAG
GTCTCGGAGGAGCCGCGGTGCCCGCGCGCCGCCTGCCAGGCCAAGCGCGGGGACCAGCGCTGCGACCGCGAGTGCAACAGCCCAGGCTGC
GGCTGGGACGGCGGCGACTGCTCGCTGAGCGTGGGCGACCCCTGGCGGCAATGCGAGGCGCTGCAGTGCTGGCGCCTCTTCAACAACAGC
CGCTGCGACCCCGCCTGCAGCTCGCCCGCCTGCCTCTACGACAACTTCGACTGCCACGCCGGTGGCCGCGAGCGCACTTGCAACCCGGTG
TACGAGAAGTACTGCGCCGACCACTTTGCCGACGGCCGCTGCGACCAGGGCTGCAACACGGAGGAGTGCGGCTGGGATGGGCTGGATTGT
GCCAGCGAGGTGCCGGCCCTGCTGGCCCGCGGCGTGCTGGTGCTCACAGTGCTGCTGCCGCCAGAGGAGCTACTGCGTTCCAGCGCCGAC
TTTCTGCAGCGGCTCAGCGCCATCCTGCGCACCTCGCTGCGCTTCCGCCTGGACGCGCACGGCCAGGCCATGGTCTTCCCTTACCACCGG
CCTAGTCCTGGCTCCGAACCCCGGGCCCGTCGGGAGCTGGCCCCCGAGGTGATCGGCTCGGTAGTAATGCTGGAGATTGACAACCGGCTC
TGCCTGCAGTCGCCTGAGAATGATCACTGCTTCCCCGATGCCCAGAGCGCCGCTGACTACCTGGGAGCGTTGTCAGCGGTGGAGCGCCTG
GACTTCCCGTACCCACTGCGGGACGTGCGGGGGGAGCCGCTGGAGCCTCCAGAACCCAGCGTCCCGCTGCTGCCACTGCTAGTGGCGGGC
GCTGTCTTGCTGCTGGTCATTCTCGTCCTGGGTGTCATGGTGGCCCGGCGCAAGCGCGAGCACAGCACCCTCTGGTTCCCTGAGGGCTTC
TCACTGCACAAGGACGTGGCCTCTGGTCACAAGGGCCGGCGGGAACCCGTGGGCCAGGACGCGCTGGGCATGAAGAACATGGCCAAGGGT
GAGAGCCTGATGGGGGAGGTGGCCACAGACTGGATGGACACAGAGTGCCCAGAGGCCAAGCGGCTAAAGGTAGAGGAGCCAGGCATGGGG
GCTGAGGAGGCTGTGGATTGCCGTCAGTGGACTCAACACCATCTGGTTGCTGCTGACATCCGCGTGGCACCAGCCATGGCACTGACACCA
CCACAGGGCGACGCAGATGCTGATGGCATGGATGTCAATGTGCGTGGCCCAGCCAGTGCAGGTGGGTCAAAATGTGTGAGTAACACCCCA
GGATACTGCAGGACATGTTGCCACTGGGGGGAGACAGCATTGTTCATGTGCAACGCTTCCAGAAAATGCTGCATCAGCTACTCCTTCCTG
CCGAAGCCTGACCTACCACAGCTCATCGGTAACCACTGGCAATCAAGGAGAAGAAACACACAAAGGAAAGACAAGAAGCAACAAACGACC


* Fusion transcript sequences (Full-length transcript).
>In-frame_NOTCH3_ENST00000263388_chr19_15278060_-_DEFB132_ENST00000382376_chr20_239718_+_7458nt
GCGGCGCGGAGGCTGGCCCGGGACGCGCCCGGAGCCCAGGGAAGGAGGGAGGAGGGGAGGGTCGCGGCCGGCCGCCATGGGGCCGGGGGC
CCGTGGCCGCCGCCGCCGCCGTCGCCCGATGTCGCCGCCACCGCCACCGCCACCCGTGCGGGCGCTGCCCCTGCTGCTGCTGCTAGCGGG
GCCGGGGGCTGCAGCCCCCCCTTGCCTGGACGGAAGCCCGTGTGCAAATGGAGGTCGTTGCACCCAGCTGCCCTCCCGGGAGGCTGCCTG
CCTGTGCCCGCCTGGCTGGGTGGGTGAGCGGTGTCAGCTGGAGGACCCCTGTCACTCAGGCCCCTGTGCTGGCCGTGGTGTCTGCCAGAG
TTCAGTGGTGGCTGGCACCGCCCGATTCTCATGCCGGTGCCCCCGTGGCTTCCGAGGCCCTGACTGCTCCCTGCCAGATCCCTGCCTCAG
CAGCCCTTGTGCCCACGGTGCCCGCTGCTCAGTGGGGCCCGATGGACGCTTCCTCTGCTCCTGCCCACCTGGCTACCAGGGCCGCAGCTG
CCGAAGCGACGTGGATGAGTGCCGGGTGGGTGAGCCCTGCCGCCATGGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTG
TCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCACCCTCACCATGCCGTAACGGGGGCACCTGCAGGCAGAG
TGGCGACCTCACTTACGACTGTGCCTGTCTTCCTGGGTTTGAGGGTCAGAATTGTGAAGTGAACGTGGACGACTGTCCAGGACACCGATG
TCTCAATGGGGGGACATGCGTGGATGGCGTCAACACCTATAACTGCCAGTGCCCTCCTGAGTGGACAGGCCAGTTCTGCACGGAGGACGT
GGATGAGTGTCAGCTGCAGCCCAACGCCTGCCACAATGGGGGTACCTGCTTCAACACGCTGGGTGGCCACAGCTGCGTGTGTGTCAATGG
CTGGACAGGCGAGAGCTGCAGTCAGAATATCGATGACTGTGCCACAGCCGTGTGCTTCCATGGGGCCACCTGCCATGACCGCGTGGCTTC
TTTCTACTGTGCCTGCCCCATGGGCAAGACTGGCCTCCTGTGTCACCTGGATGACGCCTGTGTCAGCAACCCCTGCCACGAGGATGCTAT
CTGTGACACAAATCCGGTGAACGGCCGGGCCATTTGCACCTGTCCTCCCGGCTTCACGGGTGGGGCATGTGACCAGGATGTGGACGAGTG
CTCTATCGGCGCCAACCCCTGCGAGCACTTGGGCAGGTGCGTGAACACGCAGGGCTCCTTCCTGTGCCAGTGCGGTCGTGGCTACACTGG
ACCTCGCTGTGAGACCGATGTCAACGAGTGTCTGTCGGGGCCCTGCCGAAACCAGGCCACGTGCCTCGACCGCATAGGCCAGTTCACCTG
TATCTGTATGGCAGGCTTCACAGGAACCTATTGCGAGGTGGACATTGACGAGTGTCAGAGTAGCCCCTGTGTCAACGGTGGGGTCTGCAA
GGACCGAGTCAATGGCTTCAGCTGCACCTGCCCCTCGGGCTTCAGCGGCTCCACGTGTCAGCTGGACGTGGACGAATGCGCCAGCACGCC
CTGCAGGAATGGCGCCAAATGCGTGGACCAGCCCGATGGCTACGAGTGCCGCTGTGCCGAGGGCTTTGAGGGCACGCTGTGTGATCGCAA
CGTGGACGACTGCTCCCCTGACCCATGCCACCATGGTCGCTGCGTGGATGGCATCGCCAGCTTCTCATGTGCCTGTGCTCCTGGCTACAC
GGGCACACGCTGCGAGAGCCAGGTGGACGAATGCCGCAGCCAGCCCTGCCGCCATGGCGGCAAATGCCTAGACCTGGTGGACAAGTACCT
CTGCCGCTGCCCTTCTGGGACCACAGGTGTGAACTGCGAAGTGAACATTGACGACTGTGCCAGCAACCCCTGCACCTTTGGAGTCTGCCG
TGATGGCATCAACCGCTACGACTGTGTCTGCCAACCTGGCTTCACAGGGCCCCTTTGTAACGTGGAGATCAATGAGTGTGCTTCCAGCCC
ATGCGGCGAGGGAGGTTCCTGTGTGGATGGGGAAAATGGCTTCCGCTGCCTCTGCCCGCCTGGCTCCTTGCCCCCACTCTGCCTCCCCCC
GAGCCATCCCTGTGCCCATGAGCCCTGCAGTCACGGCATCTGCTATGATGCACCTGGCGGGTTCCGCTGTGTGTGTGAGCCTGGCTGGAG
TGGCCCCCGCTGCAGCCAGAGCCTGGCCCGAGACGCCTGTGAGTCCCAGCCGTGCAGGGCCGGTGGGACATGCAGCAGCGATGGAATGGG
TTTCCACTGCACCTGCCCGCCTGGTGTCCAGGGACGTCAGTGTGAACTCCTCTCCCCCTGCACCCCGAACCCCTGTGAGCATGGGGGCCG
CTGCGAGTCTGCCCCTGGCCAGCTGCCTGTCTGCTCCTGCCCCCAGGGCTGGCAAGGCCCACGATGCCAGCAGGATGTGGACGAGTGTGC
TGGCCCCGCACCCTGTGGCCCTCATGGTATCTGCACCAACCTGGCAGGGAGTTTCAGCTGCACCTGCCATGGAGGGTACACTGGCCCTTC
CTGCGATCAGGACATCAATGACTGTGACCCCAACCCATGCCTGAACGGTGGCTCGTGCCAAGACGGCGTGGGCTCCTTTTCCTGCTCCTG
CCTCCCTGGTTTCGCCGGCCCACGATGCGCCCGCGATGTGGATGAGTGCCTGAGCAACCCCTGCGGCCCGGGCACCTGTACCGACCACGT
GGCCTCCTTCACCTGCACCTGCCCGCCAGGCTACGGAGGCTTCCACTGCGAACAGGACCTGCCCGACTGCAGCCCCAGCTCCTGCTTCAA
TGGCGGGACCTGTGTGGACGGCGTGAACTCGTTCAGCTGCCTGTGCCGTCCCGGCTACACAGGAGCCCACTGCCAACATGAGGCAGACCC
CTGCCTCTCGCGGCCCTGCCTACACGGGGGCGTCTGCAGCGCCGCCCACCCTGGCTTCCGCTGCACCTGCCTCGAGAGCTTCACGGGCCC
GCAGTGCCAGACGCTGGTGGATTGGTGCAGCCGCCAGCCTTGTCAAAACGGGGGTCGCTGCGTCCAGACTGGGGCCTATTGCCTTTGTCC
CCCTGGATGGAGCGGACGCCTCTGTGACATCCGAAGCTTGCCCTGCAGGGAGGCCGCAGCCCAGATCGGGGTGCGGCTGGAGCAGCTGTG
TCAGGCGGGTGGGCAGTGTGTGGATGAAGACAGCTCCCACTACTGCGTGTGCCCAGAGGGCCGTACTGGTAGCCACTGTGAGCAGGAGGT
GGACCCCTGCTTGGCCCAGCCCTGCCAGCATGGGGGGACCTGCCGTGGCTATATGGGGGGCTACATGTGTGAGTGTCTTCCTGGCTACAA
TGGTGATAACTGTGAGGACGACGTGGACGAGTGTGCCTCCCAGCCCTGCCAGCACGGGGGTTCATGCATTGACCTCGTGGCCCGCTATCT
CTGCTCCTGTCCCCCAGGAACGCTGGGGGTGCTCTGCGAGATTAATGAGGATGACTGCGGCCCAGGCCCACCGCTGGACTCAGGGCCCCG
GTGCCTACACAATGGCACCTGCGTGGACCTGGTGGGTGGTTTCCGCTGCACCTGTCCCCCAGGATACACTGGTTTGCGCTGCGAGGCAGA
CATCAATGAGTGTCGCTCAGGTGCCTGCCACGCGGCACACACCCGGGACTGCCTGCAGGACCCAGGCGGAGGTTTCCGTTGCCTTTGTCA
TGCTGGCTTCTCAGGTCCTCGCTGTCAGACTGTCCTGTCTCCCTGCGAGTCCCAGCCATGCCAGCATGGAGGCCAGTGCCGTCCTAGCCC
GGGTCCTGGGGGTGGGCTGACCTTCACCTGTCACTGTGCCCAGCCGTTCTGGGGTCCGCGTTGCGAGCGGGTGGCGCGCTCCTGCCGGGA
GCTGCAGTGCCCGGTGGGCGTCCCATGCCAGCAGACGCCCCGCGGGCCGCGCTGCGCCTGCCCCCCAGGGTTGTCGGGACCCTCCTGCCG
CAGCTTCCCGGGGTCGCCGCCGGGGGCCAGCAACGCCAGCTGCGCGGCCGCCCCCTGTCTCCACGGGGGCTCCTGCCGCCCCGCGCCGCT
CGCGCCCTTCTTCCGCTGCGCTTGCGCGCAGGGCTGGACCGGGCCGCGCTGCGAGGCGCCCGCCGCGGCACCCGAGGTCTCGGAGGAGCC
GCGGTGCCCGCGCGCCGCCTGCCAGGCCAAGCGCGGGGACCAGCGCTGCGACCGCGAGTGCAACAGCCCAGGCTGCGGCTGGGACGGCGG
CGACTGCTCGCTGAGCGTGGGCGACCCCTGGCGGCAATGCGAGGCGCTGCAGTGCTGGCGCCTCTTCAACAACAGCCGCTGCGACCCCGC
CTGCAGCTCGCCCGCCTGCCTCTACGACAACTTCGACTGCCACGCCGGTGGCCGCGAGCGCACTTGCAACCCGGTGTACGAGAAGTACTG
CGCCGACCACTTTGCCGACGGCCGCTGCGACCAGGGCTGCAACACGGAGGAGTGCGGCTGGGATGGGCTGGATTGTGCCAGCGAGGTGCC
GGCCCTGCTGGCCCGCGGCGTGCTGGTGCTCACAGTGCTGCTGCCGCCAGAGGAGCTACTGCGTTCCAGCGCCGACTTTCTGCAGCGGCT
CAGCGCCATCCTGCGCACCTCGCTGCGCTTCCGCCTGGACGCGCACGGCCAGGCCATGGTCTTCCCTTACCACCGGCCTAGTCCTGGCTC
CGAACCCCGGGCCCGTCGGGAGCTGGCCCCCGAGGTGATCGGCTCGGTAGTAATGCTGGAGATTGACAACCGGCTCTGCCTGCAGTCGCC
TGAGAATGATCACTGCTTCCCCGATGCCCAGAGCGCCGCTGACTACCTGGGAGCGTTGTCAGCGGTGGAGCGCCTGGACTTCCCGTACCC
ACTGCGGGACGTGCGGGGGGAGCCGCTGGAGCCTCCAGAACCCAGCGTCCCGCTGCTGCCACTGCTAGTGGCGGGCGCTGTCTTGCTGCT
GGTCATTCTCGTCCTGGGTGTCATGGTGGCCCGGCGCAAGCGCGAGCACAGCACCCTCTGGTTCCCTGAGGGCTTCTCACTGCACAAGGA
CGTGGCCTCTGGTCACAAGGGCCGGCGGGAACCCGTGGGCCAGGACGCGCTGGGCATGAAGAACATGGCCAAGGGTGAGAGCCTGATGGG
GGAGGTGGCCACAGACTGGATGGACACAGAGTGCCCAGAGGCCAAGCGGCTAAAGGTAGAGGAGCCAGGCATGGGGGCTGAGGAGGCTGT
GGATTGCCGTCAGTGGACTCAACACCATCTGGTTGCTGCTGACATCCGCGTGGCACCAGCCATGGCACTGACACCACCACAGGGCGACGC
AGATGCTGATGGCATGGATGTCAATGTGCGTGGCCCAGCCAGTGCAGGTGGGTCAAAATGTGTGAGTAACACCCCAGGATACTGCAGGAC
ATGTTGCCACTGGGGGGAGACAGCATTGTTCATGTGCAACGCTTCCAGAAAATGCTGCATCAGCTACTCCTTCCTGCCGAAGCCTGACCT
ACCACAGCTCATCGGTAACCACTGGCAATCAAGGAGAAGAAACACACAAAGGAAAGACAAGAAGCAACAAACGACCGTAACATCATAATA
ACCACTGCTATCGCCTCCACCAACTCAGAGAAATATCATTTCCACAGTTCCAATTCCTCCTACATTGCTGAGTACTAGCCAAGGCTCCTC
TTTATGGGGCAGATATCTATAGCCAACCCCAAAACTTCTGTCTTCTATCATTCTGTCATTCATCTAGTAACTAATTTGGAGTTTGTATCT
ATCTTACGAGAACAATCATCATGCAGATTCGTCCACAGGGGATCTGTCAGTTTGGGTCCTCCAAATGAAAAATGTCAAGACAGAATTGGA
CATGCAAAAGATTGACTGGGAGAACACACCTCTGATGGACAAAGGTGAGACAGAGCAGCCACAGGCAGGGAGAGCCTTCAGACTGCAACG
CTGGCCTGATACGTGTCAAAGGAGAGAGGGATAGAGGAGGATTGAATAGAAGGAGACTAAGACTGCAGCTCTAAGAAAGTCTCAGCCAAA
CAGATGGGGAGGCCCAAAGCAAGGCTTGCCCCTCAGAGGAGCTCACGCAGGGCAGGAATAGCCAGGTTCTCATATCCCAGGGGTTCAGAC
TTTGGCTGAGAACAGCCCCTGGAGAACATGGGGTGACTGCTACCATAGGTCTGGAAGTATGAGGCTGTCCACCAACTATCCCCTTGAAGC
AAGTTCTCTTGAAAGGAAATCTAAACAGTGCACCCCCATGGCTGCCACGGAGTATAAGGAGGGAGAGAAAGGAGCTGAAAGTCTAGGTTT
GGCCAGCTAGGTAGACTGACTTGTGAGGTATTTATTTATTCATTTGAGTAACAAAGCAGACAGAATACATAGCCACCATTGGTAGTACAC
CCCAAAAGCAAGGATGGCATGATGCTGGTGACTCAAACGTGCCTACTCATGGTGTCAAATTGGCATAATCCTCTTGGGAAGCTGTGTGGA
AATAAGCACAGAGAAGCAGAACTCTAATTGCTTAATCCACTAAACATTACTTCTGGGAATTGGCTCATCATAAATTATCCAAGAGAAGCA
CAAAGTTATGGGCACAAAGGTTTTCCATATAATATTATTTAAAATGCTGAGAAAATGAAAAAATCTAAATGGTGAAATATATACTAATGC
CATCTATAAATACAAACAAATAGAATGTTTATAGAATAATGGAACATAATAACATTATTCAAAATTGCATTTATGCTATAGTTGTCAAAA
TTGTCTCCTTATATGATACAAAACTCATGAAAATTATGACTTTTTTGTTTGGTTGGAAAGCAGAATTATGCATAAATTTCCTCTTACAGT
TCGATGCCCATTAGTTTTATATAACATTTATTTGACACGTACTGACTTCTATCTGAGAAGAACAAACCAAAACACTCAGGCCTAAATAAT
TAAAAACGGTCCTAAAAACTAGCAAACCAGATAAGAAAAGATGTTAATGCCCATTCCCTAACTTATGTCTTAGACCAAAATTAATTCTAG
ATGGTTTTAAAATGACAGTGTAAAAGTAAAGTATTAAAAGATTGTGTGGTCAAATATTCAATTTAAGAGCAAGGAAATTCTTATAAATAT
AACAATAGAGGCAGAACTCATGTAAGAATAAATTGATTAGGTGGTATTAAATATTAAGTTCTTATGTATGTCAAAAGATATCATTTTGAA
ATTCATCCATCTTATTGGGTATTGCAGGAGTTCATTCCTTTTTGTTTATAAATACTCTTCCGTCATATGAATAGTATTCATTTGTATACT


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FusionGenePPI for NOTCH3_DEFB132


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
NOTCH3SNW1, NOTCH1, DLL1, JAG1, JAG2, MAML1, GSK3B, STRAP, CSNK2B, PSMA1, CBL, PTCRA, FBLN1, EGFL7, MPPED2, GGT6, CBFA2T2, SPTLC2, RET, MYC, SORBS3, WWP2, RBPJ, TNNT2, XKR8, SNX19, CNTD1, WDR25, SCGB3A1, CPNE6, BAG2, SLC39A1, PPIA, C8orf76, C1QL1, TMEM108, NEDD9, RMI2, CRIP2, BTF3L4, TPT1, ANKRD44, TSPAN3, RABGGTB, NEU2, ZFP41, NTRK1, CDH1, HIF1AN, DLK2, ADAM33, ADAM32, DNAJC10, ZNF408, LRRIQ1, MANSC1, DEFA1, IFNGR1, ZNF224, ABCG8, SLC20A1DEFB132


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 NOTCH3_DEFB132


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 NOTCH3_DEFB132


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNOTCH3C0751587CADASIL Syndrome20CTD_human;ORPHANET;UNIPROT
HgeneNOTCH3C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneNOTCH3C0017636Glioblastoma1CTD_human
HgeneNOTCH3C0024121Lung Neoplasms1CTD_human;HPO
HgeneNOTCH3C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneNOTCH3C0887833Carcinoma, Pancreatic Ductal1CTD_human
HgeneNOTCH3C1458155Mammary Neoplasms1CTD_human
HgeneNOTCH3C3809084MYOFIBROMATOSIS, INFANTILE, 21UNIPROT