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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:RRM1-STIM1 (FusionGDB2 ID:77847)

Fusion Gene Summary for RRM1-STIM1

check button Fusion gene summary
Fusion gene informationFusion gene name: RRM1-STIM1
Fusion gene ID: 77847
HgeneTgene
Gene symbol

RRM1

STIM1

Gene ID

6240

6786

Gene nameribonucleotide reductase catalytic subunit M1stromal interaction molecule 1
SynonymsR1|RIR1|RR1D11S4896E|GOK|IMD10|STRMK|TAM|TAM1
Cytomap

11p15.4

11p15.4

Type of geneprotein-codingprotein-coding
Descriptionribonucleoside-diphosphate reductase large subunitribonucleoside-diphosphate reductase subunit M1ribonucleotide reductase M1 polypeptideribonucleotide reductase, R1 subunitstromal interaction molecule 1
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000300738, ENST00000423050, 
ENST00000534285, ENST00000537197, 
ENST00000528470, 		ENST00000300737, 
ENST00000527651, ENST00000527484, 
ENST00000533977, 
Fusion gene scores* DoF score6 X 5 X 2=6011 X 11 X 4=484
# samples 712
** MAII scorelog2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(12/484*10)=-2.01197264166608
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RRM1 [Title/Abstract] AND STIM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRRM1(4116261)-STIM1(4107707), # samples:3
STIM1(3877639)-RRM1(4159425), # samples:1
Anticipated loss of major functional domain due to fusion event.STIM1-RRM1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
STIM1-RRM1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
STIM1-RRM1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneSTIM1

GO:0002115

store-operated calcium entry

28219928

TgeneSTIM1

GO:0005513

detection of calcium ion

16005298

TgeneSTIM1

GO:0032237

activation of store-operated calcium channel activity

16005298|26322679|28219928

TgeneSTIM1

GO:0045762

positive regulation of adenylate cyclase activity

19171672

TgeneSTIM1

GO:0051924

regulation of calcium ion transport

16005298


check buttonFusion gene breakpoints across RRM1 (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 STIM1 (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
ChimerDB4BRCATCGA-EW-A3U0-01ARRM1chr11

4116261

+STIM1chr11

4107707

+
ChimerDB4BRCATCGA-EW-A3U0RRM1chr11

4116261

+STIM1chr11

4107706

+
ChimerDB4BRCATCGA-EW-A3U0-01ARRM1chr11

4116261

+STIM1chr11

4107707

+
ChimerDB4BRCATCGA-EW-A3U0-01ARRM1chr11

4116261

-STIM1chr11

4107707

+


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Fusion Gene ORF analysis for RRM1-STIM1

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
In-frameENST00000300738ENST00000300737RRM1chr11

4116261

+STIM1chr11

4107707

+
In-frameENST00000300738ENST00000527651RRM1chr11

4116261

+STIM1chr11

4107707

+
5CDS-intronENST00000300738ENST00000527484RRM1chr11

4116261

+STIM1chr11

4107707

+
5CDS-intronENST00000300738ENST00000533977RRM1chr11

4116261

+STIM1chr11

4107707

+
5UTR-3CDSENST00000423050ENST00000300737RRM1chr11

4116261

+STIM1chr11

4107707

+
5UTR-3CDSENST00000423050ENST00000527651RRM1chr11

4116261

+STIM1chr11

4107707

+
5UTR-intronENST00000423050ENST00000527484RRM1chr11

4116261

+STIM1chr11

4107707

+
5UTR-intronENST00000423050ENST00000533977RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-3CDSENST00000534285ENST00000300737RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-3CDSENST00000534285ENST00000527651RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-intronENST00000534285ENST00000527484RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-intronENST00000534285ENST00000533977RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-3CDSENST00000537197ENST00000300737RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-3CDSENST00000537197ENST00000527651RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-intronENST00000537197ENST00000527484RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-intronENST00000537197ENST00000533977RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-3CDSENST00000528470ENST00000300737RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-3CDSENST00000528470ENST00000527651RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-intronENST00000528470ENST00000527484RRM1chr11

4116261

+STIM1chr11

4107707

+
intron-intronENST00000528470ENST00000533977RRM1chr11

4116261

+STIM1chr11

4107707

+
In-frameENST00000300738ENST00000300737RRM1chr11

4116261

+STIM1chr11

4107706

+
In-frameENST00000300738ENST00000527651RRM1chr11

4116261

+STIM1chr11

4107706

+
5CDS-intronENST00000300738ENST00000527484RRM1chr11

4116261

+STIM1chr11

4107706

+
5CDS-intronENST00000300738ENST00000533977RRM1chr11

4116261

+STIM1chr11

4107706

+
5UTR-3CDSENST00000423050ENST00000300737RRM1chr11

4116261

+STIM1chr11

4107706

+
5UTR-3CDSENST00000423050ENST00000527651RRM1chr11

4116261

+STIM1chr11

4107706

+
5UTR-intronENST00000423050ENST00000527484RRM1chr11

4116261

+STIM1chr11

4107706

+
5UTR-intronENST00000423050ENST00000533977RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-3CDSENST00000534285ENST00000300737RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-3CDSENST00000534285ENST00000527651RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-intronENST00000534285ENST00000527484RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-intronENST00000534285ENST00000533977RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-3CDSENST00000537197ENST00000300737RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-3CDSENST00000537197ENST00000527651RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-intronENST00000537197ENST00000527484RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-intronENST00000537197ENST00000533977RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-3CDSENST00000528470ENST00000300737RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-3CDSENST00000528470ENST00000527651RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-intronENST00000528470ENST00000527484RRM1chr11

4116261

+STIM1chr11

4107706

+
intron-intronENST00000528470ENST00000533977RRM1chr11

4116261

+STIM1chr11

4107706

+

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 RRM1-STIM1


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)
RRM1chr114116261+STIM1chr114107706+0.080396450.9196035
RRM1chr114116261+STIM1chr114107706+0.080396450.9196035
RRM1chr114116261+STIM1chr114107706+0.080396450.9196035
RRM1chr114116261+STIM1chr114107706+0.080396450.9196035

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 RRM1-STIM1


check button Go to

FGviewer for the breakpoints of chr11:4116261-chr11:4107707

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
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.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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRRM1chr11:4116261chr11:4107706ENST00000300738+1195_66.333333333333333793.0Nucleotide bindingATP%3B allosteric activator
HgeneRRM1chr11:4116261chr11:4107707ENST00000300738+1195_66.333333333333333793.0Nucleotide bindingATP%3B allosteric activator
TgeneSTIM1chr11:4116261chr11:4107706ENST00000300737912600_629491.3333333333333686.0Compositional biasNote=Pro/Ser-rich
TgeneSTIM1chr11:4116261chr11:4107706ENST00000300737912672_685491.3333333333333686.0Compositional biasNote=Lys-rich
TgeneSTIM1chr11:4116261chr11:4107707ENST00000300737912600_629491.3333333333333686.0Compositional biasNote=Pro/Ser-rich
TgeneSTIM1chr11:4116261chr11:4107707ENST00000300737912672_685491.3333333333333686.0Compositional biasNote=Lys-rich
TgeneSTIM1chr11:4116261chr11:4107706ENST00000300737912642_645491.3333333333333686.0MotifNote=Microtubule tip localization signal
TgeneSTIM1chr11:4116261chr11:4107707ENST00000300737912642_645491.3333333333333686.0MotifNote=Microtubule tip localization signal

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRRM1chr11:4116261chr11:4107706ENST00000300738+1191_926.333333333333333793.0DomainATP-cone
HgeneRRM1chr11:4116261chr11:4107707ENST00000300738+1191_926.333333333333333793.0DomainATP-cone
HgeneRRM1chr11:4116261chr11:4107706ENST00000300738+11911_176.333333333333333793.0Nucleotide bindingATP%3B allosteric activator
HgeneRRM1chr11:4116261chr11:4107706ENST00000300738+119226_2286.333333333333333793.0Nucleotide bindingdTTP%3B allosteric effector that controls substrate specificity
HgeneRRM1chr11:4116261chr11:4107706ENST00000300738+119263_2646.333333333333333793.0Nucleotide bindingdTTP%3B allosteric effector that controls substrate specificity
HgeneRRM1chr11:4116261chr11:4107707ENST00000300738+11911_176.333333333333333793.0Nucleotide bindingATP%3B allosteric activator
HgeneRRM1chr11:4116261chr11:4107707ENST00000300738+119226_2286.333333333333333793.0Nucleotide bindingdTTP%3B allosteric effector that controls substrate specificity
HgeneRRM1chr11:4116261chr11:4107707ENST00000300738+119263_2646.333333333333333793.0Nucleotide bindingdTTP%3B allosteric effector that controls substrate specificity
HgeneRRM1chr11:4116261chr11:4107706ENST00000300738+119604_6076.333333333333333793.0RegionGDP binding
HgeneRRM1chr11:4116261chr11:4107707ENST00000300738+119604_6076.333333333333333793.0RegionGDP binding
TgeneSTIM1chr11:4116261chr11:4107706ENST0000030073791276_87491.3333333333333686.0Calcium binding.
TgeneSTIM1chr11:4116261chr11:4107707ENST0000030073791276_87491.3333333333333686.0Calcium binding.
TgeneSTIM1chr11:4116261chr11:4107706ENST00000300737912248_442491.3333333333333686.0Coiled coilOntology_term=ECO:0000269,ECO:0000269,ECO:0000269
TgeneSTIM1chr11:4116261chr11:4107707ENST00000300737912248_442491.3333333333333686.0Coiled coilOntology_term=ECO:0000269,ECO:0000269,ECO:0000269
TgeneSTIM1chr11:4116261chr11:4107706ENST00000300737912270_336491.3333333333333686.0Compositional biasNote=Glu-rich
TgeneSTIM1chr11:4116261chr11:4107707ENST00000300737912270_336491.3333333333333686.0Compositional biasNote=Glu-rich
TgeneSTIM1chr11:4116261chr11:4107706ENST00000300737912132_200491.3333333333333686.0DomainSAM
TgeneSTIM1chr11:4116261chr11:4107706ENST0000030073791263_98491.3333333333333686.0DomainNote=EF-hand
TgeneSTIM1chr11:4116261chr11:4107707ENST00000300737912132_200491.3333333333333686.0DomainSAM
TgeneSTIM1chr11:4116261chr11:4107707ENST0000030073791263_98491.3333333333333686.0DomainNote=EF-hand
TgeneSTIM1chr11:4116261chr11:4107706ENST00000300737912334_444491.3333333333333686.0RegionNote=SOAR/CAD
TgeneSTIM1chr11:4116261chr11:4107707ENST00000300737912334_444491.3333333333333686.0RegionNote=SOAR/CAD
TgeneSTIM1chr11:4116261chr11:4107706ENST00000300737912235_685491.3333333333333686.0Topological domainCytoplasmic
TgeneSTIM1chr11:4116261chr11:4107706ENST0000030073791223_213491.3333333333333686.0Topological domainExtracellular
TgeneSTIM1chr11:4116261chr11:4107707ENST00000300737912235_685491.3333333333333686.0Topological domainCytoplasmic
TgeneSTIM1chr11:4116261chr11:4107707ENST0000030073791223_213491.3333333333333686.0Topological domainExtracellular
TgeneSTIM1chr11:4116261chr11:4107706ENST00000300737912214_234491.3333333333333686.0TransmembraneHelical
TgeneSTIM1chr11:4116261chr11:4107707ENST00000300737912214_234491.3333333333333686.0TransmembraneHelical


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Fusion Gene Sequence for RRM1-STIM1


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 RRM1-STIM1


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 RRM1-STIM1


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 RRM1-STIM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRRM1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneRRM1C0011999Diastematomyelia1CTD_human
HgeneRRM1C0027794Neural Tube Defects1CTD_human
HgeneRRM1C0027806Neurenteric Cyst1CTD_human
HgeneRRM1C0080218Tethered Cord Syndrome1CTD_human
HgeneRRM1C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneRRM1C0152234Iniencephaly1CTD_human
HgeneRRM1C0152426Craniorachischisis1CTD_human
HgeneRRM1C0206686Adrenocortical carcinoma1CTD_human
HgeneRRM1C0235874Disease Exacerbation1CTD_human
HgeneRRM1C0266453Exencephaly1CTD_human
HgeneRRM1C0344479Spinal Cord Myelodysplasia1CTD_human
HgeneRRM1C0702169Acrania1CTD_human
HgeneRRM1C2239176Liver carcinoma1CTD_human
TgeneSTIM1C1861451Stormorken Syndrome5GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSTIM1C4011726MYOPATHY, TUBULAR AGGREGATE, 14GENOMICS_ENGLAND;UNIPROT
TgeneSTIM1C2748557Immune dysfunction with T-cell inactivation due to calcium entry defect 23CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSTIM1C0020538Hypertensive disease1CTD_human
TgeneSTIM1C0024121Lung Neoplasms1CTD_human
TgeneSTIM1C0027659Neoplasms, Experimental1CTD_human
TgeneSTIM1C0087031Juvenile-Onset Still Disease1CTD_human
TgeneSTIM1C0242379Malignant neoplasm of lung1CTD_human
TgeneSTIM1C0410207Tubular Aggregate Myopathy1CTD_human;ORPHANET
TgeneSTIM1C0494261Combined immunodeficiency1GENOMICS_ENGLAND
TgeneSTIM1C3495559Juvenile arthritis1CTD_human
TgeneSTIM1C3495676Anorectal Malformations1GENOMICS_ENGLAND
TgeneSTIM1C3714758Juvenile psoriatic arthritis1CTD_human
TgeneSTIM1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneSTIM1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human