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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:GRB10-MAD1L1 (FusionGDB2 ID:34623)

Fusion Gene Summary for GRB10-MAD1L1

check button Fusion gene summary
Fusion gene informationFusion gene name: GRB10-MAD1L1
Fusion gene ID: 34623
HgeneTgene
Gene symbol

GRB10

MAD1L1

Gene ID

2887

8379

Gene namegrowth factor receptor bound protein 10mitotic arrest deficient 1 like 1
SynonymsGRB-IR|Grb-10|IRBP|MEG1|RSSMAD1|PIG9|TP53I9|TXBP181
Cytomap

7p12.1

7p22.3

Type of geneprotein-codingprotein-coding
Descriptiongrowth factor receptor-bound protein 10GRB10 adapter proteinGRB10 adaptor proteininsulin receptor-binding protein Grb-IRmaternally expressed gene 1mitotic spindle assembly checkpoint protein MAD1MAD1 mitotic arrest deficient like 1MAD1-like protein 1mitotic arrest deficient 1-like protein 1mitotic checkpoint MAD1 protein homologmitotic-arrest deficient 1, yeast, homolog-like 1tax-binding prote
Modification date2020032720200313
UniProtAcc

Q13322

Q9Y6D9

Ensembl transtripts involved in fusion geneENST00000483819, ENST00000335866, 
ENST00000401949, ENST00000403097, 
ENST00000406641, ENST00000407526, 
ENST00000357271, ENST00000398810, 
ENST00000398812, ENST00000402497, 
ENST00000402578, ENST00000439599, 
ENST00000486340, ENST00000265854, 
ENST00000399654, ENST00000402746, 
ENST00000406869, 
Fusion gene scores* DoF score13 X 10 X 8=104023 X 16 X 12=4416
# samples 1637
** MAII scorelog2(16/1040*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(37/4416*10)=-3.57714299626186
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GRB10 [Title/Abstract] AND MAD1L1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGRB10(50823584)-MAD1L1(2188873), # samples:3
Anticipated loss of major functional domain due to fusion event.GRB10-MAD1L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
GRB10-MAD1L1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
GRB10-MAD1L1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted 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
HgeneGRB10

GO:0030178

negative regulation of Wnt signaling pathway

17376403

HgeneGRB10

GO:0030949

positive regulation of vascular endothelial growth factor receptor signaling pathway

15060076

TgeneMAD1L1

GO:0007094

mitotic spindle assembly checkpoint

18981471

TgeneMAD1L1

GO:0090235

regulation of metaphase plate congression

20133940


check buttonFusion gene breakpoints across GRB10 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MAD1L1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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-05-4415-01AGRB10chr7

50823584

-MAD1L1chr7

2188873

-


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Fusion Gene ORF analysis for GRB10-MAD1L1

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-intronENST00000483819ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000335866ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000335866ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000335866ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000335866ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000401949ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000401949ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000401949ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000401949ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000403097ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000403097ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000403097ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000403097ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000406641ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000406641ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000406641ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000406641ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000407526ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000407526ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000407526ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-3CDSENST00000407526ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-intronENST00000335866ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-intronENST00000401949ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-intronENST00000403097ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-intronENST00000406641ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
5UTR-intronENST00000407526ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
Frame-shiftENST00000483819ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
Frame-shiftENST00000483819ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
Frame-shiftENST00000483819ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
Frame-shiftENST00000483819ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000357271ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000357271ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000357271ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000357271ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000398810ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000398810ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000398810ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000398810ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000398812ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000398812ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000398812ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000398812ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000402497ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000402497ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000402497ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000402497ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000402578ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000402578ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000402578ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000402578ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000439599ENST00000265854GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000439599ENST00000399654GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000439599ENST00000402746GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-3CDSENST00000439599ENST00000406869GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-intronENST00000357271ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-intronENST00000398810ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-intronENST00000398812ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-intronENST00000402497ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-intronENST00000402578ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-
intron-intronENST00000439599ENST00000486340GRB10chr7

50823584

-MAD1L1chr7

2188873

-

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)

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

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Fusion Genomic Features for GRB10-MAD1L1


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.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for GRB10-MAD1L1


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/:50823584/:2188873)
- 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
GRB10

Q13322

MAD1L1

Q9Y6D9

FUNCTION: Adapter protein which modulates coupling of a number of cell surface receptor kinases with specific signaling pathways. Binds to, and suppress signals from, activated receptors tyrosine kinases, including the insulin (INSR) and insulin-like growth factor (IGF1R) receptors. The inhibitory effect can be achieved by 2 mechanisms: interference with the signaling pathway and increased receptor degradation. Delays and reduces AKT1 phosphorylation in response to insulin stimulation. Blocks association between INSR and IRS1 and IRS2 and prevents insulin-stimulated IRS1 and IRS2 tyrosine phosphorylation. Recruits NEDD4 to IGF1R, leading to IGF1R ubiquitination, increased internalization and degradation by both the proteasomal and lysosomal pathways. May play a role in mediating insulin-stimulated ubiquitination of INSR, leading to proteasomal degradation. Negatively regulates Wnt signaling by interacting with LRP6 intracellular portion and interfering with the binding of AXIN1 to LRP6. Positive regulator of the KDR/VEGFR-2 signaling pathway. May inhibit NEDD4-mediated degradation of KDR/VEGFR-2. {ECO:0000269|PubMed:12493740, ECO:0000269|PubMed:15060076, ECO:0000269|PubMed:16434550, ECO:0000269|PubMed:17376403}.FUNCTION: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate (PubMed:10049595, PubMed:20133940, PubMed:29162720). Forms a heterotetrameric complex with the closed conformation form of MAD2L1 (C-MAD2) at unattached kinetochores during prometaphase, recruits an open conformation of MAD2L1 (O-MAD2) and promotes the conversion of O-MAD2 to C-MAD2, which ensures mitotic checkpoint signaling (PubMed:29162720). {ECO:0000269|PubMed:10049595, ECO:0000269|PubMed:20133940, ECO:0000269|PubMed:29162720}.

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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Fusion Gene Sequence for GRB10-MAD1L1


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.

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Fusion Gene PPI Analysis for GRB10-MAD1L1


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 GRB10-MAD1L1


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 GRB10-MAD1L1


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