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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:IGFBPL1-SHB

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: IGFBPL1-SHB
FusionPDB ID: 38630
FusionGDB2.0 ID: 38630
HgeneTgene
Gene symbol

IGFBPL1

SHB

Gene ID

347252

6461

Gene nameinsulin like growth factor binding protein like 1SH2 domain containing adaptor protein B
SynonymsIGFBP-RP4|IGFBPRP4|bA113O24.1bA3J10.2
Cytomap

9p13.1

9p13.1

Type of geneprotein-codingprotein-coding
Descriptioninsulin-like growth factor-binding protein-like 1IGFBP-related protein 10insulin-like growth factor binding protein related protein 4insulin-like growth factor-binding-related protein 4SH2 domain-containing adapter protein BSHB (Src homology 2 domain containing) adaptor protein BSHB adaptor protein (a Src homology 2 protein)Src homology 2 domain containing adaptor protein B
Modification date2020031320200313
UniProtAcc

Q8WX77

.
Ensembl transtripts involved in fusion geneENST idsENST00000377694, ENST00000377700, 
ENST00000377707, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 3=4810 X 7 X 6=420
# samples 410
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/420*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: IGFBPL1 [Title/Abstract] AND SHB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)IGFBPL1(38423961)-SHB(37920001), # samples:1
Anticipated loss of major functional domain due to fusion event.IGFBPL1-SHB 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.
IGFBPL1-SHB 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.
IGFBPL1-SHB 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.
IGFBPL1-SHB 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

check buttonFusion gene breakpoints across IGFBPL1 (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 SHB (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4LUADTCGA-05-5425IGFBPL1chr9

38423961

-SHBchr9

37920001

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000377694IGFBPL1chr938423961-ENST00000377707SHBchr937920001-13544836623205

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
ENST00000377694ENST00000377707IGFBPL1chr938423961-SHBchr937920001-0.79870020.20129971

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>38630_38630_1_IGFBPL1-SHB_IGFBPL1_chr9_38423961_ENST00000377694_SHB_chr9_37920001_ENST00000377707_length(amino acids)=205AA_BP=1
MSRSKPCRACLCSCRCCFCCCCRCCRRCPRALGSATWAAGAPSVVRAGQRAARRLRPARRPGSRRSTSAAAAPAAWEPRARAAGAAPAGA
VAPAWYARARPLGQRPRAPGSACARSAAPSAAPTVARTPASARCACALGTRPARTPVTCTRRATALASSEQPGFYAHETGQNQREIRSGS

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr9:38423961/chr9:37920001)
- 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
IGFBPL1

Q8WX77

.
FUNCTION: IGF-binding proteins prolong the half-life of IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs in cell culture. They alter the interaction of IGFs with their cell surface receptors (By similarity). May be a putative tumor suppressor protein. {ECO:0000250, ECO:0000269|PubMed:15845387}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneIGFBPL1chr9:38423961chr9:37920001ENST00000377694-1534_109153.33333333333334209.0DomainIGFBP N-terminal
HgeneIGFBPL1chr9:38423961chr9:37920001ENST00000377694-1595_153153.33333333333334209.0DomainKazal-like
TgeneSHBchr9:38423961chr9:37920001ENST0000037770003410_5040298.0DomainSH2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneIGFBPL1chr9:38423961chr9:37920001ENST00000377694-15155_259153.33333333333334209.0DomainNote=Ig-like C2-type
TgeneSHBchr9:38423961chr9:37920001ENST0000037770746410_504448.6666666666667510.0DomainSH2


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
IGFBPL1
SHB


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to IGFBPL1-SHB


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to IGFBPL1-SHB


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource