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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:R3HCC1L-ST7 (FusionGDB2 ID:71056)

Fusion Gene Summary for R3HCC1L-ST7

check button Fusion gene summary
Fusion gene informationFusion gene name: R3HCC1L-ST7
Fusion gene ID: 71056
HgeneTgene
Gene symbol

R3HCC1L

ST7

Gene ID

27291

93655

Gene nameR3H domain and coiled-coil containing 1 likeST7 overlapping transcript 3
SynonymsC10orf28|GIDRP86|GIDRP88|PSORTNCRNA00026|ST7|ST7OT3
Cytomap

10q24.2

7q31.2

Type of geneprotein-codingncRNA
Descriptioncoiled-coil domain-containing protein R3HCC1LR3H and coiled-coil domain-containing protein 1-likegrowth inhibition and differentiation related protein 86growth inhibition and differentiation-related protein 88putative mitochondrial space protein 32.1ST7 overlapping transcript 3 (non-coding RNA)ST7 overlapping transcript 3 (non-protein coding)suppression of tumorigenicity 7
Modification date2020031320200313
UniProtAcc

Q7Z5L2

.
Ensembl transtripts involved in fusion geneENST00000298999, ENST00000314594, 
ENST00000370584, ENST00000370586, 
ENST00000265437, ENST00000323984, 
ENST00000393446, ENST00000393449, 
ENST00000393451, ENST00000422922, 
ENST00000432298, ENST00000393443, 
ENST00000393444, ENST00000393447, 
ENST00000465133, ENST00000487459, 
Fusion gene scores* DoF score3 X 4 X 3=3613 X 10 X 8=1040
# samples 314
** MAII scorelog2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/1040*10)=-2.89308479608349
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: R3HCC1L [Title/Abstract] AND ST7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointR3HCC1L(99915904)-ST7(116849841), # 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

check buttonFusion gene breakpoints across R3HCC1L (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 ST7 (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
ChimerDB4Non-CancerTCGA-CG-5730-11AR3HCC1Lchr10

99915904

+ST7chr7

116849841

+


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Fusion Gene ORF analysis for R3HCC1L-ST7

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
5UTR-3CDSENST00000298999ENST00000265437R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000298999ENST00000323984R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000298999ENST00000393446R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000298999ENST00000393449R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000298999ENST00000393451R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000298999ENST00000422922R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000298999ENST00000432298R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000314594ENST00000265437R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000314594ENST00000323984R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000314594ENST00000393446R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000314594ENST00000393449R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000314594ENST00000393451R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000314594ENST00000422922R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-3CDSENST00000314594ENST00000432298R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-intronENST00000298999ENST00000393443R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-intronENST00000298999ENST00000393444R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-intronENST00000298999ENST00000393447R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-intronENST00000298999ENST00000465133R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-intronENST00000298999ENST00000487459R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-intronENST00000314594ENST00000393443R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-intronENST00000314594ENST00000393444R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-intronENST00000314594ENST00000393447R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-intronENST00000314594ENST00000465133R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
5UTR-intronENST00000314594ENST00000487459R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370584ENST00000265437R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370584ENST00000323984R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370584ENST00000393446R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370584ENST00000393449R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370584ENST00000393451R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370584ENST00000422922R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370584ENST00000432298R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370586ENST00000265437R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370586ENST00000323984R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370586ENST00000393446R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370586ENST00000393449R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370586ENST00000393451R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370586ENST00000422922R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-3CDSENST00000370586ENST00000432298R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-intronENST00000370584ENST00000393443R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-intronENST00000370584ENST00000393444R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-intronENST00000370584ENST00000393447R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-intronENST00000370584ENST00000465133R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-intronENST00000370584ENST00000487459R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-intronENST00000370586ENST00000393443R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-intronENST00000370586ENST00000393444R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-intronENST00000370586ENST00000393447R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-intronENST00000370586ENST00000465133R3HCC1Lchr10

99915904

+ST7chr7

116849841

+
intron-intronENST00000370586ENST00000487459R3HCC1Lchr10

99915904

+ST7chr7

116849841

+

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 R3HCC1L-ST7


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)
R3HCC1Lchr1099915904+ST7chr7116849840+0.0064029930.99359703
R3HCC1Lchr1099915904+ST7chr7116849840+0.0064029930.99359703

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%

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Fusion Protein Features for R3HCC1L-ST7


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/:99915904/:116849841)
- 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
R3HCC1L

Q7Z5L2

.
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


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Fusion Gene Sequence for R3HCC1L-ST7


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 R3HCC1L-ST7


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 R3HCC1L-ST7


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 R3HCC1L-ST7


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