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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:COL6A1-CIRBP (FusionGDB2 ID:18415)

Fusion Gene Summary for COL6A1-CIRBP

check button Fusion gene summary
Fusion gene informationFusion gene name: COL6A1-CIRBP
Fusion gene ID: 18415
HgeneTgene
Gene symbol

COL6A1

CIRBP

Gene ID

1291

1153

Gene namecollagen type VI alpha 1 chaincold inducible RNA binding protein
SynonymsBTHLM1|OPLL|UCHMD1CIRP
Cytomap

21q22.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(VI) chainalpha 1 (VI) chain (61 AA)collagen VI, alpha-1 polypeptidecollagen, type VI, alpha 1epididymis secretory sperm binding proteincold-inducible RNA-binding proteinA18 hnRNPglycine-rich RNA binding proteintesticular tissue protein Li 39
Modification date2020032820200327
UniProtAcc.

Q14011

Ensembl transtripts involved in fusion geneENST00000361866, ENST00000498614, 
ENST00000320936, ENST00000413636, 
ENST00000444172, ENST00000585630, 
ENST00000586472, ENST00000586773, 
ENST00000587323, ENST00000587896, 
ENST00000588030, ENST00000588090, 
ENST00000588230, ENST00000589235, 
ENST00000589660, ENST00000589686, 
ENST00000589710, ENST00000591935, 
ENST00000590188, 
Fusion gene scores* DoF score13 X 12 X 8=12487 X 7 X 5=245
# samples 158
** MAII scorelog2(15/1248*10)=-3.05658352836637
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL6A1 [Title/Abstract] AND CIRBP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL6A1(47401861)-CIRBP(1270927), # 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
TgeneCIRBP

GO:0009411

response to UV

11574538

TgeneCIRBP

GO:0045727

positive regulation of translation

11574538

TgeneCIRBP

GO:0048255

mRNA stabilization

11574538


check buttonFusion gene breakpoints across COL6A1 (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 CIRBP (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
ChimerDB4GBMTCGA-19-A6J5-01ACOL6A1chr21

47401861

+CIRBPchr19

1270927

+


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Fusion Gene ORF analysis for COL6A1-CIRBP

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-5UTRENST00000361866ENST00000320936COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000413636COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000444172COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000585630COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000586472COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000586773COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000587323COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000587896COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000588030COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000588090COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000588230COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000589235COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000589660COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000589686COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000589710COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-5UTRENST00000361866ENST00000591935COL6A1chr21

47401861

+CIRBPchr19

1270927

+
5CDS-intronENST00000361866ENST00000590188COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000320936COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000413636COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000444172COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000585630COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000586472COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000586773COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000587323COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000587896COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000588030COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000588090COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000588230COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000589235COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000589660COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000589686COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000589710COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-5UTRENST00000498614ENST00000591935COL6A1chr21

47401861

+CIRBPchr19

1270927

+
intron-intronENST00000498614ENST00000590188COL6A1chr21

47401861

+CIRBPchr19

1270927

+

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 COL6A1-CIRBP


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)
COL6A1chr2147401861+CIRBPchr191270926+0.0001011610.9998988
COL6A1chr2147401861+CIRBPchr191270926+0.0001011610.9998988

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 COL6A1-CIRBP


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/:47401861/:1270927)
- 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
.CIRBP

Q14011

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: Cold-inducible mRNA binding protein that plays a protective role in the genotoxic stress response by stabilizing transcripts of genes involved in cell survival. Acts as a translational activator. Seems to play an essential role in cold-induced suppression of cell proliferation. Binds specifically to the 3'-untranslated regions (3'-UTRs) of stress-responsive transcripts RPA2 and TXN. Acts as a translational repressor (By similarity). Promotes assembly of stress granules (SGs), when overexpressed. {ECO:0000250, ECO:0000269|PubMed:11574538, ECO:0000269|PubMed:16513844}.

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 COL6A1-CIRBP


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 COL6A1-CIRBP


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 COL6A1-CIRBP


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 COL6A1-CIRBP


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