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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:CASQ2-LRIF1 (FusionGDB2 ID:13253)

Fusion Gene Summary for CASQ2-LRIF1

check button Fusion gene summary
Fusion gene informationFusion gene name: CASQ2-LRIF1
Fusion gene ID: 13253
HgeneTgene
Gene symbol

CASQ2

LRIF1

Gene ID

845

55791

Gene namecalsequestrin 2ligand dependent nuclear receptor interacting factor 1
SynonymsPDIB2C1orf103|HBiX1|RIF1
Cytomap

1p13.1

1p13.3

Type of geneprotein-codingprotein-coding
Descriptioncalsequestrin-2calsequestrin 2 (cardiac muscle)calsequestrin 2, fast-twitch, cardiac musclecalsequestrin, cardiac muscle isoformligand-dependent nuclear receptor-interacting factor 1HP1-binding protein enriched in inactive X chromosome protein 1receptor-interacting factor 1
Modification date2020031320200313
UniProtAcc.

Q5T3J3

Ensembl transtripts involved in fusion geneENST00000261448, ENST00000456138, 
ENST00000488931, 
ENST00000485275, 
ENST00000494675, ENST00000369763, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CASQ2 [Title/Abstract] AND LRIF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCASQ2(116310929)-LRIF1(111492745), # 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
HgeneCASQ2

GO:0051208

sequestering of calcium ion

16601229

HgeneCASQ2

GO:0051258

protein polymerization

17881003|22123818

HgeneCASQ2

GO:0060315

negative regulation of ryanodine-sensitive calcium-release channel activity

16601229


check buttonFusion gene breakpoints across CASQ2 (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 LRIF1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-CancerERR315384CASQ2chr1

116310929

-LRIF1chr1

111492745

-


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Fusion Gene ORF analysis for CASQ2-LRIF1

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-5UTRENST00000261448ENST00000485275CASQ2chr1

116310929

-LRIF1chr1

111492745

-
5CDS-5UTRENST00000261448ENST00000494675CASQ2chr1

116310929

-LRIF1chr1

111492745

-
5CDS-5UTRENST00000456138ENST00000485275CASQ2chr1

116310929

-LRIF1chr1

111492745

-
5CDS-5UTRENST00000456138ENST00000494675CASQ2chr1

116310929

-LRIF1chr1

111492745

-
In-frameENST00000261448ENST00000369763CASQ2chr1

116310929

-LRIF1chr1

111492745

-
In-frameENST00000456138ENST00000369763CASQ2chr1

116310929

-LRIF1chr1

111492745

-
intron-3CDSENST00000488931ENST00000369763CASQ2chr1

116310929

-LRIF1chr1

111492745

-
intron-5UTRENST00000488931ENST00000485275CASQ2chr1

116310929

-LRIF1chr1

111492745

-
intron-5UTRENST00000488931ENST00000494675CASQ2chr1

116310929

-LRIF1chr1

111492745

-

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)
ENST00000261448CASQ2chr1116310929-ENST00000369763LRIF1chr1111492745-19624742401187315
ENST00000456138CASQ2chr1116310929-ENST00000369763LRIF1chr1111492745-18954071731120315

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
ENST00000261448ENST00000369763CASQ2chr1116310929-LRIF1chr1111492745-0.0002338140.9997662
ENST00000456138ENST00000369763CASQ2chr1116310929-LRIF1chr1111492745-0.0002253310.99977463

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Fusion Genomic Features for CASQ2-LRIF1


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.
genomic feature

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 CASQ2-LRIF1


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/chr1:116310929/chr1:111492745)
- 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
.LRIF1

Q5T3J3

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}.FUNCTION: Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin (PubMed:23542155). Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), possibly through direct recruitment of histone deacetylases (PubMed:17455211). {ECO:0000269|PubMed:17455211, ECO:0000269|PubMed:23542155}.

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
TgeneLRIF1chr1:116310929chr1:111492745ENST0000036976314740_769532770.0Coiled coilOntology_term=ECO:0000255
TgeneLRIF1chr1:116310929chr1:111492745ENST0000048527503740_7690234.0Coiled coilOntology_term=ECO:0000255
TgeneLRIF1chr1:116310929chr1:111492745ENST0000049467503740_7690234.0Coiled coilOntology_term=ECO:0000255
TgeneLRIF1chr1:116310929chr1:111492745ENST0000036976314580_584532770.0MotifPxVxL motif
TgeneLRIF1chr1:116310929chr1:111492745ENST0000036976314628_631532770.0MotifNuclear localization signal
TgeneLRIF1chr1:116310929chr1:111492745ENST0000036976314642_645532770.0MotifNuclear localization signal
TgeneLRIF1chr1:116310929chr1:111492745ENST0000048527503580_5840234.0MotifPxVxL motif
TgeneLRIF1chr1:116310929chr1:111492745ENST0000048527503628_6310234.0MotifNuclear localization signal
TgeneLRIF1chr1:116310929chr1:111492745ENST0000048527503642_6450234.0MotifNuclear localization signal
TgeneLRIF1chr1:116310929chr1:111492745ENST0000049467503580_5840234.0MotifPxVxL motif
TgeneLRIF1chr1:116310929chr1:111492745ENST0000049467503628_6310234.0MotifNuclear localization signal
TgeneLRIF1chr1:116310929chr1:111492745ENST0000049467503642_6450234.0MotifNuclear localization signal

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCASQ2chr1:116310929chr1:111492745ENST00000261448-111356_39978400.0Compositional biasNote=Asp/Glu-rich (acidic)


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Fusion Gene Sequence for CASQ2-LRIF1


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.
>13253_13253_1_CASQ2-LRIF1_CASQ2_chr1_116310929_ENST00000261448_LRIF1_chr1_111492745_ENST00000369763_length(transcript)=1962nt_BP=474nt
TGCGTGCGTGCGTGCGTGCGTGTGTGTGTGTGTGTGCCTCTGCTCTTTGTCCTGAGCCCACGATTCCAGAGCTGGCTGGACCCAAGGAGG
TGAAGAGTCACTTTTCAGCCCCAGGAAGGGCAAAGAAGAGAGAAAATCAGCCTGTCTGCTCTCTCCTTGGCTCAACAAGGCCTCTAACAG
TCTTCTGTCCTCTATTCTGCACACAGCATATTTGGGAACGAGAAACAAAAGTTTTCCCAAATGAAGAGAACTCACTTGTTTATTGTGGGG
ATTTATTTTCTGTCCTCTTGCAGGGCAGAAGAGGGGCTTAATTTCCCCACATATGATGGGAAGGACCGAGTGGTAAGTCTTTCCGAGAAG
AACTTCAAGCAGGTTTTAAAGAAATATGACTTGCTTTGCCTCTACTACCATGAGCCGGTGTCTTCAGATAAGGTCACGCAAAAACAGTTC
CAACTGAAAGAAATCGTGCTTGAGATCCATAATGAGATGGCATCAACATCAGATAAAGGTGCCCAAGGAAGAAATGACAAGAAAGATTCT
CAAGGAAGAAGTAATAAGGCATTACATCTGAAGAGTGATGCTGAATTTAAAAAGATATTTGGCCTTACTAAGGATTTGAGAGTGTGCCTT
ACTCGAATTCCTGACCATTTGACCTCTGGAGAAGGTTTCGATTCCTTTAGCAGTTTGGTAAAGAGTGGTACTTACAAAGAGACAGAGTTT
ATGGTGAAGGAAGGAGAGAGAAAACAGCAGAATTTTGATAAGAAAAGAAAAGCAAAAACTAATAAGAAGATGGATCACATAAAGAAGAGA
AAAACAGAGAATGCTTATAACGCAATCATAAATGGGGAAGCTAATGTCACCGGTTCCCAACTCCTAAGCAGTATTTTACCAACTTCAGAT
GTGTCACAACATAACATTCTCACGAGTCACAGCAAAACCAGACAAGAAAAGAGAACTGAGATGGAATACTATACCCATGAGAAGCAAGAG
AAAGGCACTTTGAATTCAAATGCAGCTTATGAACAAAGTCATTTCTTCAATAAAAATTATACCGAAGATATTTTCCCAGTGACACCACCG
GAGTTAGAAGAAACCATTCGAGATGAAAAAATAAGAAGACTTAAGCAGGTGCTGAGAGAGAAAGAAGCAGCTCTTGAAGAAATGCGTAAG
AAGATGCACCAAAAATAAAATCTCCTGTAAAGACTTCAGTGAAATAGCTGTTTTTTAAAATATACTTCAGCATTAATAAGTTAATTGTAG
GTGTGTTCTGAAAGTGTCTTTGAATATGAAGCTTGTTTTTTCATCAGTCGATTGTACAACTTTAAGGAATACAGAAAAGGTTGATTCACA
TATGACTTGTGAATAATTTACATGGGGTATCTATACCTTTGTCTTAGATACCTTTTTTTGGAAGGATAAATTTTATATTTTTCTATTATT
TTAACTAGAATTCTCCAAGTTTGAATATTTGGGCAGGGTTTTTGTTATTGTTTGTATCTTTACCTAAATTGCTCAGGCATTATTCCAGCA
GTAGATAGTGACTGTGTATTACTGAAATTTTACAATTCAAGAGAGGAAATCAGCTCCAAACTTAGCTTTTCCAGTGGATTTGTATATGTA
CTTGCTTTATCTCTTTACCCTTAAAATGATGATACCTTGTATTCACCATTGTTTTTTTTAATGTCGTGAAATAATATGTATTATGGCAAC
ATTATTTAAACATTCAAACATTTCTCAAGAATGAGCAACATTTGTAACTTTACAATGTAATTTTATATAATCCAAAGGTATTTTAGAATT
CAGGCCATTTGATGTTTTGTTTGCTTATAGTGATGTGTTCCCAGGCAAATGCTGCTTTTTTTTTTTTTGGGACTATGTACATACGTTACT

>13253_13253_1_CASQ2-LRIF1_CASQ2_chr1_116310929_ENST00000261448_LRIF1_chr1_111492745_ENST00000369763_length(amino acids)=315AA_BP=78
MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPVSSDKVTQKQFQLKEIVLEIHNEMASTSDKG
AQGRNDKKDSQGRSNKALHLKSDAEFKKIFGLTKDLRVCLTRIPDHLTSGEGFDSFSSLVKSGTYKETEFMVKEGERKQQNFDKKRKAKT
NKKMDHIKKRKTENAYNAIINGEANVTGSQLLSSILPTSDVSQHNILTSHSKTRQEKRTEMEYYTHEKQEKGTLNSNAAYEQSHFFNKNY

--------------------------------------------------------------
>13253_13253_2_CASQ2-LRIF1_CASQ2_chr1_116310929_ENST00000456138_LRIF1_chr1_111492745_ENST00000369763_length(transcript)=1895nt_BP=407nt
AGAGCTGGCTGGACCCAAGGAGGTGAAGAGTCACTTTTCAGCCCCAGGAAGGGCAAAGAAGAGAGAAAATCAGCCTGTCTGCTCTCTCCT
TGGCTCAACAAGGCCTCTAACAGTCTTCTGTCCTCTATTCTGCACACAGCATATTTGGGAACGAGAAACAAAAGTTTTCCCAAATGAAGA
GAACTCACTTGTTTATTGTGGGGATTTATTTTCTGTCCTCTTGCAGGGCAGAAGAGGGGCTTAATTTCCCCACATATGATGGGAAGGACC
GAGTGGTAAGTCTTTCCGAGAAGAACTTCAAGCAGGTTTTAAAGAAATATGACTTGCTTTGCCTCTACTACCATGAGCCGGTGTCTTCAG
ATAAGGTCACGCAAAAACAGTTCCAACTGAAAGAAATCGTGCTTGAGATCCATAATGAGATGGCATCAACATCAGATAAAGGTGCCCAAG
GAAGAAATGACAAGAAAGATTCTCAAGGAAGAAGTAATAAGGCATTACATCTGAAGAGTGATGCTGAATTTAAAAAGATATTTGGCCTTA
CTAAGGATTTGAGAGTGTGCCTTACTCGAATTCCTGACCATTTGACCTCTGGAGAAGGTTTCGATTCCTTTAGCAGTTTGGTAAAGAGTG
GTACTTACAAAGAGACAGAGTTTATGGTGAAGGAAGGAGAGAGAAAACAGCAGAATTTTGATAAGAAAAGAAAAGCAAAAACTAATAAGA
AGATGGATCACATAAAGAAGAGAAAAACAGAGAATGCTTATAACGCAATCATAAATGGGGAAGCTAATGTCACCGGTTCCCAACTCCTAA
GCAGTATTTTACCAACTTCAGATGTGTCACAACATAACATTCTCACGAGTCACAGCAAAACCAGACAAGAAAAGAGAACTGAGATGGAAT
ACTATACCCATGAGAAGCAAGAGAAAGGCACTTTGAATTCAAATGCAGCTTATGAACAAAGTCATTTCTTCAATAAAAATTATACCGAAG
ATATTTTCCCAGTGACACCACCGGAGTTAGAAGAAACCATTCGAGATGAAAAAATAAGAAGACTTAAGCAGGTGCTGAGAGAGAAAGAAG
CAGCTCTTGAAGAAATGCGTAAGAAGATGCACCAAAAATAAAATCTCCTGTAAAGACTTCAGTGAAATAGCTGTTTTTTAAAATATACTT
CAGCATTAATAAGTTAATTGTAGGTGTGTTCTGAAAGTGTCTTTGAATATGAAGCTTGTTTTTTCATCAGTCGATTGTACAACTTTAAGG
AATACAGAAAAGGTTGATTCACATATGACTTGTGAATAATTTACATGGGGTATCTATACCTTTGTCTTAGATACCTTTTTTTGGAAGGAT
AAATTTTATATTTTTCTATTATTTTAACTAGAATTCTCCAAGTTTGAATATTTGGGCAGGGTTTTTGTTATTGTTTGTATCTTTACCTAA
ATTGCTCAGGCATTATTCCAGCAGTAGATAGTGACTGTGTATTACTGAAATTTTACAATTCAAGAGAGGAAATCAGCTCCAAACTTAGCT
TTTCCAGTGGATTTGTATATGTACTTGCTTTATCTCTTTACCCTTAAAATGATGATACCTTGTATTCACCATTGTTTTTTTTAATGTCGT
GAAATAATATGTATTATGGCAACATTATTTAAACATTCAAACATTTCTCAAGAATGAGCAACATTTGTAACTTTACAATGTAATTTTATA
TAATCCAAAGGTATTTTAGAATTCAGGCCATTTGATGTTTTGTTTGCTTATAGTGATGTGTTCCCAGGCAAATGCTGCTTTTTTTTTTTT
TGGGACTATGTACATACGTTACTGAGATTGTGTAAAAAGTAGATCCTGAACAGTTATCACATTTAATATTTCTTAAACTGTAAAAGTGTA

>13253_13253_2_CASQ2-LRIF1_CASQ2_chr1_116310929_ENST00000456138_LRIF1_chr1_111492745_ENST00000369763_length(amino acids)=315AA_BP=78
MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPVSSDKVTQKQFQLKEIVLEIHNEMASTSDKG
AQGRNDKKDSQGRSNKALHLKSDAEFKKIFGLTKDLRVCLTRIPDHLTSGEGFDSFSSLVKSGTYKETEFMVKEGERKQQNFDKKRKAKT
NKKMDHIKKRKTENAYNAIINGEANVTGSQLLSSILPTSDVSQHNILTSHSKTRQEKRTEMEYYTHEKQEKGTLNSNAAYEQSHFFNKNY

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Fusion Gene PPI Analysis for CASQ2-LRIF1


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 CASQ2-LRIF1


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 CASQ2-LRIF1


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