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in Kim Lab

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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:JAG1-SLMO2 (FusionGDB2 ID:HG182TG51012)

Fusion Gene Summary for JAG1-SLMO2

check button Fusion gene summary
Fusion gene informationFusion gene name: JAG1-SLMO2
Fusion gene ID: hg182tg51012
HgeneTgene
Gene symbol

JAG1

SLMO2

Gene ID

182

51012

Gene namejagged canonical Notch ligand 1PRELI domain containing 3B
SynonymsAGS|AGS1|AHD|AWS|CD339|DCHE|HJ1|JAGL1C20orf45|SLMO2|dJ543J19.5
Cytomap('JAG1')('SLMO2')

20p12.2

20q13.32

Type of geneprotein-codingprotein-coding
Descriptionprotein jagged-1PRELI domain containing protein 3Bprotein slowmo homolog 2slowmo homolog 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000423891, ENST00000254958, 
ENST00000488480, 
Fusion gene scores* DoF score7 X 7 X 5=2451 X 1 X 1=1
# samples 71
** MAII scorelog2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: JAG1 [Title/Abstract] AND SLMO2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointJAG1(10629708)-SLMO2(57611815), # samples:1
Anticipated loss of major functional domain due to fusion event.JAG1-SLMO2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
JAG1-SLMO2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
JAG1-SLMO2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
JAG1-SLMO2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneJAG1

GO:0001953

negative regulation of cell-matrix adhesion

11549580

HgeneJAG1

GO:0022408

negative regulation of cell-cell adhesion

11549580

HgeneJAG1

GO:0030336

negative regulation of cell migration

11549580


check buttonFusion gene breakpoints across JAG1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across SLMO2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-IN-A6RIJAG1chr20

10629708

-SLMO2chr20

57611815

-


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Fusion Gene ORF analysis for JAG1-SLMO2

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-shiftENST00000423891ENST00000355937JAG1chr20

10629708

-SLMO2chr20

57611815

-
Frame-shiftENST00000423891ENST00000371033JAG1chr20

10629708

-SLMO2chr20

57611815

-
In-frameENST00000254958ENST00000355937JAG1chr20

10629708

-SLMO2chr20

57611815

-
In-frameENST00000254958ENST00000371033JAG1chr20

10629708

-SLMO2chr20

57611815

-
intron-3CDSENST00000488480ENST00000355937JAG1chr20

10629708

-SLMO2chr20

57611815

-
intron-3CDSENST00000488480ENST00000371033JAG1chr20

10629708

-SLMO2chr20

57611815

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000254958JAG1chr2010629708-ENST00000355937SLMO2chr2057611815-406719115162204562
ENST00000254958JAG1chr2010629708-ENST00000371033SLMO2chr2057611815-257819115162204562

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000254958ENST00000355937JAG1chr2010629708-SLMO2chr2057611815-0.0001038350.99989617
ENST00000254958ENST00000371033JAG1chr2010629708-SLMO2chr2057611815-0.0012767680.9987232

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Fusion Genomic Features for JAG1-SLMO2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for JAG1-SLMO2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:10629708/chr20:57611815)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126185_2294651219.0DomainDSL
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126230_2634651219.0DomainEGF-like 1
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126264_2944651219.0DomainEGF-like 2%3B atypical
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126296_3344651219.0DomainEGF-like 3
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126336_3724651219.0DomainEGF-like 4
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126374_4104651219.0DomainEGF-like 5%3B calcium-binding
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126412_4484651219.0DomainEGF-like 6%3B calcium-binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126450_4854651219.0DomainEGF-like 7%3B calcium-binding
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126487_5234651219.0DomainEGF-like 8%3B calcium-binding
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126525_5614651219.0DomainEGF-like 9
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126586_6274651219.0DomainEGF-like 10
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126629_6654651219.0DomainEGF-like 11%3B calcium-binding
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126667_7034651219.0DomainEGF-like 12%3B calcium-binding
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126705_7414651219.0DomainEGF-like 13
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126744_7804651219.0DomainEGF-like 14
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126782_8184651219.0DomainEGF-like 15%3B calcium-binding
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-1126820_8564651219.0DomainEGF-like 16%3B calcium-binding
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-11261094_12184651219.0Topological domainCytoplasmic
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-112634_10674651219.0Topological domainExtracellular
HgeneJAG1chr20:10629708chr20:57611815ENST00000254958-11261068_10934651219.0TransmembraneHelical
TgeneSLMO2chr20:10629708chr20:57611815ENST00000355937261_17297195.0DomainPRELI/MSF1
TgeneSLMO2chr20:10629708chr20:57611815ENST00000371033151_17267165.0DomainPRELI/MSF1


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Fusion Gene Sequence for JAG1-SLMO2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>40827_40827_1_JAG1-SLMO2_JAG1_chr20_10629708_ENST00000254958_SLMO2_chr20_57611815_ENST00000355937_length(transcript)=4067nt_BP=1911nt
CTGCCCGGCGTGCTGGGTAGAGGTGGCCAGCCCCGGCCGCTGCTGCCAGACGGGCTCTCCGGGTCCTTCTCCGAGAGCCGGGCGGGCACG
CGTCATTGTGTTACCTGCGGCCGGCCCGCGAGCTAGGCTGGTTTTTTTTTTTCTCCCCTCCCTCCCCCCTTTTTCCATGCAGCTGATCTA
AAAGGGAATAAAAGGCTGCGCATAATCATAATAATAAAAGAAGGGGAGCGCGAGAGAAGGAAAGAAAGCCGGGAGGTGGAAGAGGAGGGG
GAGCGTCTCAAAGAAGCGATCAGAATAATAAAAGGAGGCCGGGCTCTTTGCCTTCTGGAACGGGCCGCTCTTGAAAGGGCTTTTGAAAAG
TGGTGTTGTTTTCCAGTCGTGCATGCTCCAATCGGCGGAGTATATTAGAGCCGGGACGCGGCGGCCGCAGGGGCAGCGGCGACGGCAGCA
CCGGCGGCAGCACCAGCGCGAACAGCAGCGGCGGCGTCCCGAGTGCCCGCGGCGCGCGGCGCAGCGATGCGTTCCCCACGGACGCGCGGC
CGGTCCGGGCGCCCCCTAAGCCTCCTGCTCGCCCTGCTCTGTGCCCTGCGAGCCAAGGTGTGTGGGGCCTCGGGTCAGTTCGAGTTGGAG
ATCCTGTCCATGCAGAACGTGAACGGGGAGCTGCAGAACGGGAACTGCTGCGGCGGCGCCCGGAACCCGGGAGACCGCAAGTGCACCCGC
GACGAGTGTGACACATACTTCAAAGTGTGCCTCAAGGAGTATCAGTCCCGCGTCACGGCCGGGGGGCCCTGCAGCTTCGGCTCAGGGTCC
ACGCCTGTCATCGGGGGCAACACCTTCAACCTCAAGGCCAGCCGCGGCAACGACCGCAACCGCATCGTGCTGCCTTTCAGTTTCGCCTGG
CCGAGGTCCTATACGTTGCTTGTGGAGGCGTGGGATTCCAGTAATGACACCGTTCAACCTGACAGTATTATTGAAAAGGCTTCTCACTCG
GGCATGATCAACCCCAGCCGGCAGTGGCAGACGCTGAAGCAGAACACGGGCGTTGCCCACTTTGAGTATCAGATCCGCGTGACCTGTGAT
GACTACTACTATGGCTTTGGCTGCAATAAGTTCTGCCGCCCCAGAGATGACTTCTTTGGACACTATGCCTGTGACCAGAATGGCAACAAA
ACTTGCATGGAAGGCTGGATGGGCCCCGAATGTAACAGAGCTATTTGCCGACAAGGCTGCAGTCCTAAGCATGGGTCTTGCAAACTCCCA
GGTGACTGCAGGTGCCAGTACGGCTGGCAAGGCCTGTACTGTGATAAGTGCATCCCACACCCGGGATGCGTCCACGGCATCTGTAATGAG
CCCTGGCAGTGCCTCTGTGAGACCAACTGGGGCGGCCAGCTCTGTGACAAAGATCTCAATTACTGTGGGACTCATCAGCCGTGTCTCAAC
GGGGGAACTTGTAGCAACACAGGCCCTGACAAATATCAGTGTTCCTGCCCTGAGGGGTATTCAGGACCCAACTGTGAAATTGCTGAGCAC
GCCTGCCTCTCTGATCCCTGTCACAACAGAGGCAGCTGTAAGGAGACCTCCCTGGGCTTTGAGTGTGAGTGTTCCCCAGGCTGGACCGGC
CCCACATGCTCTACAAACATTGATGACTGTTCTCCTAATAACTGTTCCCACGGGGGCACCTGCCAGGACCTGGTTAACGGATTTAAGTGT
GTGTGCCCCCCACAGTGGACTGGGAAAACGTGCCAGTTAGATGCAAATGAATGTGAGGCCAAACCTTGTGTAAACGCCAAATCCTGTAAG
AATCTCATTGCCAGCTACTACTGCGACTGTCTTCCCGGCTGGATGGGTCAGAATTGTGACATAAATATTAATGACTGCCTTGGCCAGTGT
CAGAATGACGCCTCCTGTCGGATTTCATTTACAAACATGGTTTCAGTAGATGAGAGACTTATATACAAACCACATCCTCAGGATCCAGAA
AAAACTGTTTTGACACAAGAAGCCATAATTACCGTGAAAGGAGTTAGCCTCAGCAGTTACCTTGAAGGACTGATGGCAAGTACGATATCC
TCAAATGCTAGTAAAGGCCGAGAAGCAATGGAATGGGTAATACATAAATTAAATGCTGAGATTGAAGAACTGACAGCCTCAGCAAGAGGA
ACCATAAGGACTCCAATGGCAGCAGCAGCGTTTGCAGAGAAGTGATCGTGACAGTTGGTAGACAACATCGGGTACTCCAGGTCTCTCCAA
ACTGACTATATATTTATTTGTTATTTTAAAAATACAACTATATTTTGGGTAGTTTTTTTTTTTTTTTTTTTGATAAGTTGGTGTAAGGCT
ATGTGACTTGATCAAAACAGATGCAGGGCCTCTAAATAAAAGGGATCATCTGAAATTAATGTTGTTTGAAATTACTATCTGATTTTGAGG
GTTCCAGTATTTCTGTGAAAATTCAACAAGAACTCCTTGGAAACTGGTATTGATATTCAGTCTCCTTAAGGTAGATTTTTCAAGCTTTTC
ATACATTGGAACTCCACCTGACTTTGGACCAACCCCAGAACAGAGCAGAGCCACCTCCTATAGACGCCCATTGCCCTGCTGCTGTACACT
TCAGCAGCTTGCACAAGGGAGCTCACTTAAAAGGAGAAATTGTGTAGTTTTAAAATATATTTTGTGTAAAATACCTTACTATGCTATAAA
CCACCATTAAAAACCAGTGTTTTGATTTGGTACTTAAATATTTTTGGAGTGAAAATTATCACTAAAGTAACATGACTCCAACAAAAGTAT
GGTTTCATTATAAAAGAGTACTGTATTGATTTGCCCAAGTTTTGTAACTTAGTAAAGGTATTAACTTCCTTGGATTTGTACTTTGTGATT
TAGTATGCTGTATCGTGGGCTGGTTATGTTAACTGAAAAAAATAAAGTCATTACCTGAGTTTTGCAGTGCTCTAACTTAAACAGAAGAAC
AGCTGTTCACATCTTTTAGCATTTTACATTTGCCTAACTTAAAAATTGCCATGTGTCAAAATCATGGTTTTGTAATTGCTAAGGCATGAT
ATGTCAGGTTATTTGAATATAATTACTTTTTGAAGTAATTGTGACCACAAAACATCTTTTTTACATGAAGGAGCTGTGTATCATTTGAAA
TTACTCAAATGATGTCTTGCTCTGAGGCATAAATCCCAGGTACTTAGTGTTTTTAATAATATGGTGCCACTGCAGGATTTGGGGGCGGTG
GGGAAGAACAAGCATAATGGTAGGGGGAGGCTTGGCCTGAAACTAACCACTGAGTGAATTGCACTGCAGGTTTTACTTAACGGGAATTCC
TTATTTGGGATGTCAAGAGGGCAGCTGCAAACTGAAAAACAATCCAGTAAATGTACTTTGTTTTATGTATTGTAGCAGGCAATTAACTAC
TAAATAATAGCTTTGACATTTGCAATTGTTGCATAGAGACTATTTTTGCTAGAAGATGATTAGCTCTTGCCTTTATTTTACAGTGCTTAG
TGTGATAAACTTCTAGTCATGTTTCCTATCCAAGAGACCAGTTAATATATGTACATAAACCACAGAAATAGTATAACACACTATTTTTAA
ATTATCGTTTTCCTACTTAAATTTTGTTTAGCTTAAGACTTCTTAGGACATTTGTAAAAGCAGGTTAAATTTAATAAGGTTTCTGATTTT
TTTTTGTAACCGGAGATAGTTTTTACAAGTGAAATAACATTTCAGCTAAATAAAACATCGCTAAATAATTGATATTTGATGAAAATCTGC
TTTGTATAATTTCTGTAAATTATCCTTGTTCTGAAAAAGGTGTAATGCCCTAATATTTTTAAATCCTTATCCTTTGATTTTTTAAAAACT
GACCTATTGATAAAACTATAAATTTTCATTTTCCAGTGCAGTTAGTTACCTTTTTAAACATAAATGCACAACAAGCAAATGAATTTAAGA
GAACTAAACTGGAATAAGTGTTCATAAATGAAACCCTTGGACTATTTAATAAAGTTGAAATGTGAATTAAGGAAAACTTTTGTTAATAAA

>40827_40827_1_JAG1-SLMO2_JAG1_chr20_10629708_ENST00000254958_SLMO2_chr20_57611815_ENST00000355937_length(amino acids)=562AA_BP=465
MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARNPGDRKCTRDECDTYFKVCLKEYQSRVTAGG
PCSFGSGSTPVIGGNTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGMINPSRQWQTLKQNTGVAHFE
YQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPECNRAICRQGCSPKHGSCKLPGDCRCQYGWQGLYCDKCIPHPG
CVHGICNEPWQCLCETNWGGQLCDKDLNYCGTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFEC
ECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKPCVNAKSCKNLIASYYCDCLPGWMGQNCDIN
INDCLGQCQNDASCRISFTNMVSVDERLIYKPHPQDPEKTVLTQEAIITVKGVSLSSYLEGLMASTISSNASKGREAMEWVIHKLNAEIE

--------------------------------------------------------------
>40827_40827_2_JAG1-SLMO2_JAG1_chr20_10629708_ENST00000254958_SLMO2_chr20_57611815_ENST00000371033_length(transcript)=2578nt_BP=1911nt
CTGCCCGGCGTGCTGGGTAGAGGTGGCCAGCCCCGGCCGCTGCTGCCAGACGGGCTCTCCGGGTCCTTCTCCGAGAGCCGGGCGGGCACG
CGTCATTGTGTTACCTGCGGCCGGCCCGCGAGCTAGGCTGGTTTTTTTTTTTCTCCCCTCCCTCCCCCCTTTTTCCATGCAGCTGATCTA
AAAGGGAATAAAAGGCTGCGCATAATCATAATAATAAAAGAAGGGGAGCGCGAGAGAAGGAAAGAAAGCCGGGAGGTGGAAGAGGAGGGG
GAGCGTCTCAAAGAAGCGATCAGAATAATAAAAGGAGGCCGGGCTCTTTGCCTTCTGGAACGGGCCGCTCTTGAAAGGGCTTTTGAAAAG
TGGTGTTGTTTTCCAGTCGTGCATGCTCCAATCGGCGGAGTATATTAGAGCCGGGACGCGGCGGCCGCAGGGGCAGCGGCGACGGCAGCA
CCGGCGGCAGCACCAGCGCGAACAGCAGCGGCGGCGTCCCGAGTGCCCGCGGCGCGCGGCGCAGCGATGCGTTCCCCACGGACGCGCGGC
CGGTCCGGGCGCCCCCTAAGCCTCCTGCTCGCCCTGCTCTGTGCCCTGCGAGCCAAGGTGTGTGGGGCCTCGGGTCAGTTCGAGTTGGAG
ATCCTGTCCATGCAGAACGTGAACGGGGAGCTGCAGAACGGGAACTGCTGCGGCGGCGCCCGGAACCCGGGAGACCGCAAGTGCACCCGC
GACGAGTGTGACACATACTTCAAAGTGTGCCTCAAGGAGTATCAGTCCCGCGTCACGGCCGGGGGGCCCTGCAGCTTCGGCTCAGGGTCC
ACGCCTGTCATCGGGGGCAACACCTTCAACCTCAAGGCCAGCCGCGGCAACGACCGCAACCGCATCGTGCTGCCTTTCAGTTTCGCCTGG
CCGAGGTCCTATACGTTGCTTGTGGAGGCGTGGGATTCCAGTAATGACACCGTTCAACCTGACAGTATTATTGAAAAGGCTTCTCACTCG
GGCATGATCAACCCCAGCCGGCAGTGGCAGACGCTGAAGCAGAACACGGGCGTTGCCCACTTTGAGTATCAGATCCGCGTGACCTGTGAT
GACTACTACTATGGCTTTGGCTGCAATAAGTTCTGCCGCCCCAGAGATGACTTCTTTGGACACTATGCCTGTGACCAGAATGGCAACAAA
ACTTGCATGGAAGGCTGGATGGGCCCCGAATGTAACAGAGCTATTTGCCGACAAGGCTGCAGTCCTAAGCATGGGTCTTGCAAACTCCCA
GGTGACTGCAGGTGCCAGTACGGCTGGCAAGGCCTGTACTGTGATAAGTGCATCCCACACCCGGGATGCGTCCACGGCATCTGTAATGAG
CCCTGGCAGTGCCTCTGTGAGACCAACTGGGGCGGCCAGCTCTGTGACAAAGATCTCAATTACTGTGGGACTCATCAGCCGTGTCTCAAC
GGGGGAACTTGTAGCAACACAGGCCCTGACAAATATCAGTGTTCCTGCCCTGAGGGGTATTCAGGACCCAACTGTGAAATTGCTGAGCAC
GCCTGCCTCTCTGATCCCTGTCACAACAGAGGCAGCTGTAAGGAGACCTCCCTGGGCTTTGAGTGTGAGTGTTCCCCAGGCTGGACCGGC
CCCACATGCTCTACAAACATTGATGACTGTTCTCCTAATAACTGTTCCCACGGGGGCACCTGCCAGGACCTGGTTAACGGATTTAAGTGT
GTGTGCCCCCCACAGTGGACTGGGAAAACGTGCCAGTTAGATGCAAATGAATGTGAGGCCAAACCTTGTGTAAACGCCAAATCCTGTAAG
AATCTCATTGCCAGCTACTACTGCGACTGTCTTCCCGGCTGGATGGGTCAGAATTGTGACATAAATATTAATGACTGCCTTGGCCAGTGT
CAGAATGACGCCTCCTGTCGGATTTCATTTACAAACATGGTTTCAGTAGATGAGAGACTTATATACAAACCACATCCTCAGGATCCAGAA
AAAACTGTTTTGACACAAGAAGCCATAATTACCGTGAAAGGAGTTAGCCTCAGCAGTTACCTTGAAGGACTGATGGCAAGTACGATATCC
TCAAATGCTAGTAAAGGCCGAGAAGCAATGGAATGGGTAATACATAAATTAAATGCTGAGATTGAAGAACTGACAGCCTCAGCAAGAGGA
ACCATAAGGACTCCAATGGCAGCAGCAGCGTTTGCAGAGAAGTGATCGTGACAGTTGGTAGACAACATCGGGTACTCCAGGTCTCTCCAA
ACTGACTATATATTTATTTGTTATTTTAAAAATACAACTATATTTTGGGTAGTTTTTTTTTTTTTTTTTTTGATAAGTTGGTGTAAGGCT
ATGTGACTTGATCAAAACAGATGCAGGGCCTCTAAATAAAAGGGATCATCTGAAATTAATGTTGTTTGAAATTACTATCTGATTTTGAGG
GTTCCAGTATTTCTGTGAAAATTCAACAAGAACTCCTTGGAAACTGGTATTGATATTCAGTCTCCTTAAGGTAGATTTTTCAAGCTTTTC

>40827_40827_2_JAG1-SLMO2_JAG1_chr20_10629708_ENST00000254958_SLMO2_chr20_57611815_ENST00000371033_length(amino acids)=562AA_BP=465
MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARNPGDRKCTRDECDTYFKVCLKEYQSRVTAGG
PCSFGSGSTPVIGGNTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGMINPSRQWQTLKQNTGVAHFE
YQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPECNRAICRQGCSPKHGSCKLPGDCRCQYGWQGLYCDKCIPHPG
CVHGICNEPWQCLCETNWGGQLCDKDLNYCGTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFEC
ECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKPCVNAKSCKNLIASYYCDCLPGWMGQNCDIN
INDCLGQCQNDASCRISFTNMVSVDERLIYKPHPQDPEKTVLTQEAIITVKGVSLSSYLEGLMASTISSNASKGREAMEWVIHKLNAEIE

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Fusion Gene PPI Analysis for JAG1-SLMO2


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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Related Drugs for JAG1-SLMO2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for JAG1-SLMO2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneJAG1C1956125Alagille Syndrome 119CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneJAG1C0085280Alagille Syndrome5CTD_human;GENOMICS_ENGLAND
HgeneJAG1C0015393Eye Abnormalities3CTD_human
HgeneJAG1C0039685Tetralogy of Fallot3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneJAG1C1857761Alagille Syndrome 23CTD_human
HgeneJAG1C2930797Hepatic ductular hypoplasia3CTD_human
HgeneJAG1C0282631Facies2CTD_human
HgeneJAG1C1866053Deafness, Congenital Heart Defects, and Posterior Embryotoxon2GENOMICS_ENGLAND;UNIPROT
HgeneJAG1C0005940Bone Diseases1CTD_human
HgeneJAG1C0006142Malignant neoplasm of breast1CTD_human
HgeneJAG1C0010038Corneal Opacity1CTD_human
HgeneJAG1C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneJAG1C0011052Prelingual Deafness1CTD_human
HgeneJAG1C0011053Deafness1CTD_human
HgeneJAG1C0017636Glioblastoma1CTD_human
HgeneJAG1C0018798Congenital Heart Defects1CTD_human
HgeneJAG1C0024121Lung Neoplasms1CTD_human
HgeneJAG1C0026654Moyamoya Disease1GENOMICS_ENGLAND
HgeneJAG1C0036095Salivary Gland Neoplasms1CTD_human
HgeneJAG1C0036341Schizophrenia1PSYGENET
HgeneJAG1C0086395Hearing Loss, Extreme1CTD_human
HgeneJAG1C0220636Malignant neoplasm of salivary gland1CTD_human
HgeneJAG1C0242379Malignant neoplasm of lung1CTD_human
HgeneJAG1C0334588Giant Cell Glioblastoma1CTD_human
HgeneJAG1C0581883Complete Hearing Loss1CTD_human
HgeneJAG1C0678222Breast Carcinoma1CTD_human
HgeneJAG1C0751068Deafness, Acquired1CTD_human
HgeneJAG1C0887833Carcinoma, Pancreatic Ductal1CTD_human
HgeneJAG1C1257931Mammary Neoplasms, Human1CTD_human
HgeneJAG1C1458155Mammary Neoplasms1CTD_human
HgeneJAG1C1621958Glioblastoma Multiforme1CTD_human
HgeneJAG1C3665473Bilateral Deafness1CTD_human
HgeneJAG1C4082305Deaf Mutism1CTD_human
HgeneJAG1C4704874Mammary Carcinoma, Human1CTD_human