FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CD9-SIM2 (FusionGDB2 ID:14755)

Fusion Gene Summary for CD9-SIM2

check button Fusion gene summary
Fusion gene informationFusion gene name: CD9-SIM2
Fusion gene ID: 14755
HgeneTgene
Gene symbol

CD9

SIM2

Gene ID

928

6493

Gene nameCD9 moleculeSIM bHLH transcription factor 2
SynonymsBTCC-1|DRAP-27|MIC3|MRP-1|TSPAN-29|TSPAN29HMC13F06|HMC29C01|SIM|bHLHe15
Cytomap

12p13.31

21q22.13

Type of geneprotein-codingprotein-coding
DescriptionCD9 antigen5H9 antigenBA-2/p24 antigenCD9 antigen (p24)antigen CD9cell growth-inhibiting gene 2 proteinleukocyte antigen MIC3motility related protein-1tetraspanin-29single-minded homolog 2class E basic helix-loop-helix protein 15single-minded family bHLH transcription factor 2transcription factor SIM2
Modification date2020032720200320
UniProtAcc

P21926

.
Ensembl transtripts involved in fusion geneENST00000481267, ENST00000009180, 
ENST00000382515, ENST00000382518, 
ENST00000290399, ENST00000430056, 
ENST00000460783, 
Fusion gene scores* DoF score13 X 11 X 7=10014 X 6 X 3=72
# samples 146
** MAII scorelog2(14/1001*10)=-2.83794324189103
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CD9 [Title/Abstract] AND SIM2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCD9(6334700)-SIM2(38084832), # samples:1
CD9(6347423)-SIM2(38116605), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneCD9

GO:0007155

cell adhesion

7511626

HgeneCD9

GO:0007342

fusion of sperm to egg plasma membrane involved in single fertilization

14575715

HgeneCD9

GO:0051271

negative regulation of cellular component movement

8478605

HgeneCD9

GO:0090331

negative regulation of platelet aggregation

18541721


check buttonFusion gene breakpoints across CD9 (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 SIM2 (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
ChimerDB4COADTCGA-A6-5656CD9chr12

6334700

+SIM2chr21

38084832

+
ChiTaRS5.0N/ABI493452CD9chr12

6347423

+SIM2chr21

38116605

+


Top

Fusion Gene ORF analysis for CD9-SIM2

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
3UTR-intronENST00000481267ENST00000290399CD9chr12

6334700

+SIM2chr21

38084832

+
3UTR-intronENST00000481267ENST00000430056CD9chr12

6334700

+SIM2chr21

38084832

+
3UTR-intronENST00000481267ENST00000460783CD9chr12

6334700

+SIM2chr21

38084832

+
5CDS-intronENST00000009180ENST00000290399CD9chr12

6334700

+SIM2chr21

38084832

+
5CDS-intronENST00000009180ENST00000290399CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000009180ENST00000430056CD9chr12

6334700

+SIM2chr21

38084832

+
5CDS-intronENST00000009180ENST00000430056CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000009180ENST00000460783CD9chr12

6334700

+SIM2chr21

38084832

+
5CDS-intronENST00000009180ENST00000460783CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000382515ENST00000290399CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000382515ENST00000430056CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000382515ENST00000460783CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000382518ENST00000290399CD9chr12

6334700

+SIM2chr21

38084832

+
5CDS-intronENST00000382518ENST00000290399CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000382518ENST00000430056CD9chr12

6334700

+SIM2chr21

38084832

+
5CDS-intronENST00000382518ENST00000430056CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000382518ENST00000460783CD9chr12

6334700

+SIM2chr21

38084832

+
5CDS-intronENST00000382518ENST00000460783CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000481267ENST00000290399CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000481267ENST00000430056CD9chr12

6347423

+SIM2chr21

38116605

+
5CDS-intronENST00000481267ENST00000460783CD9chr12

6347423

+SIM2chr21

38116605

+
5UTR-intronENST00000382515ENST00000290399CD9chr12

6334700

+SIM2chr21

38084832

+
5UTR-intronENST00000382515ENST00000430056CD9chr12

6334700

+SIM2chr21

38084832

+
5UTR-intronENST00000382515ENST00000460783CD9chr12

6334700

+SIM2chr21

38084832

+

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

Top

Fusion Genomic Features for CD9-SIM2


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)
CD9chr126334700+SIM2chr2138084832+0.0002842660.99971575
CD9chr126334700+SIM2chr2138084832+0.0002842660.99971575

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.
genomic feature of top 1%

Top

Fusion Protein Features for CD9-SIM2


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/:6334700/:38084832)
- 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
CD9

P21926

.
FUNCTION: Integral membrane protein associated with integrins, which regulates different processes, such as sperm-egg fusion, platelet activation and aggregation, and cell adhesion (PubMed:8478605, PubMed:14575715, PubMed:18541721). Present at the cell surface of oocytes and plays a key role in sperm-egg fusion, possibly by organizing multiprotein complexes and the morphology of the membrane required for the fusion (By similarity). In myoblasts, associates with CD81 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD81 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles (PubMed:12796480). Also prevents the fusion between mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). Acts as a receptor for PSG17 (By similarity). Involved in platelet activation and aggregation (PubMed:18541721). Regulates paranodal junction formation (By similarity). Involved in cell adhesion, cell motility and tumor metastasis (PubMed:8478605, PubMed:7511626). {ECO:0000250|UniProtKB:P40240, ECO:0000269|PubMed:12796480, ECO:0000269|PubMed:14575715, ECO:0000269|PubMed:18541721, ECO:0000269|PubMed:7511626, ECO:0000269|PubMed:8478605}.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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for CD9-SIM2


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.

Top

Fusion Gene PPI Analysis for CD9-SIM2


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


Top

Related Drugs for CD9-SIM2


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

Top

Related Diseases for CD9-SIM2


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