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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:TOLLIP-RPGR (FusionGDB2 ID:92343)

Fusion Gene Summary for TOLLIP-RPGR

check button Fusion gene summary
Fusion gene informationFusion gene name: TOLLIP-RPGR
Fusion gene ID: 92343
HgeneTgene
Gene symbol

TOLLIP

RPGR

Gene ID

54472

6103

Gene nametoll interacting proteinretinitis pigmentosa GTPase regulator
SynonymsIL-1RAcPIPCOD1|CORDX1|CRD|PCDX|RP15|RP3|XLRP3|orf15
Cytomap

11p15.5

Xp11.4

Type of geneprotein-codingprotein-coding
Descriptiontoll-interacting proteinadapter proteinX-linked retinitis pigmentosa GTPase regulatorretinitis pigmentosa 15retinitis pigmentosa 3 GTPase regulator
Modification date2020032720200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000317204, ENST00000527886, 
ENST00000525159, ENST00000263646, 
ENST00000542915, ENST00000527938, 
ENST00000528719, 		ENST00000318842, 
ENST00000338898, ENST00000339363, 
ENST00000309513, ENST00000342811, 
ENST00000378505, 
Fusion gene scores* DoF score6 X 5 X 5=1504 X 3 X 3=36
# samples 74
** MAII scorelog2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TOLLIP [Title/Abstract] AND RPGR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTOLLIP(1297010)-RPGR(38146413), # 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
HgeneTOLLIP

GO:0016310

phosphorylation

1085432

HgeneTOLLIP

GO:0036010

protein localization to endosome

16412388


check buttonFusion gene breakpoints across TOLLIP (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 RPGR (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
ChiTaRS5.0N/AAX340189TOLLIPchr11

1297010

-RPGRchrX

38146413

-


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Fusion Gene ORF analysis for TOLLIP-RPGR

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
intron-3CDSENST00000317204ENST00000318842TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000317204ENST00000338898TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000317204ENST00000339363TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000317204ENST00000309513TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000317204ENST00000342811TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000317204ENST00000378505TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3CDSENST00000527886ENST00000318842TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000527886ENST00000338898TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000527886ENST00000339363TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000527886ENST00000309513TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000527886ENST00000342811TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000527886ENST00000378505TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3CDSENST00000525159ENST00000318842TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000525159ENST00000338898TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000525159ENST00000339363TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000525159ENST00000309513TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000525159ENST00000342811TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000525159ENST00000378505TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3CDSENST00000263646ENST00000318842TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000263646ENST00000338898TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000263646ENST00000339363TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000263646ENST00000309513TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000263646ENST00000342811TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000263646ENST00000378505TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3CDSENST00000542915ENST00000318842TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000542915ENST00000338898TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000542915ENST00000339363TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000542915ENST00000309513TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000542915ENST00000342811TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000542915ENST00000378505TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3CDSENST00000527938ENST00000318842TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000527938ENST00000338898TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000527938ENST00000339363TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000527938ENST00000309513TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000527938ENST00000342811TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000527938ENST00000378505TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3CDSENST00000528719ENST00000318842TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000528719ENST00000338898TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000528719ENST00000339363TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000528719ENST00000309513TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000528719ENST00000342811TOLLIPchr11

1297010

-RPGRchrX

38146413

-
intron-3UTRENST00000528719ENST00000378505TOLLIPchr11

1297010

-RPGRchrX

38146413

-

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 TOLLIP-RPGR


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.

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 TOLLIP-RPGR


check button Go to

FGviewer for the breakpoints of :-:

.
- 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

- 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 TOLLIP-RPGR


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 TOLLIP-RPGR


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 TOLLIP-RPGR


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 TOLLIP-RPGR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRPGRC1845667RETINITIS PIGMENTOSA 314CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneRPGRC2749137Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneRPGRC0035334Retinitis Pigmentosa3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneRPGRC3489532Cone-Rod Dystrophy 22ORPHANET
TgeneRPGRC0035243Respiratory Tract Infections1CTD_human
TgeneRPGRC0035304Retinal Degeneration1CTD_human
TgeneRPGRC0041912Upper Respiratory Infections1CTD_human
TgeneRPGRC0242383Age related macular degeneration1CTD_human
TgeneRPGRC0854723Retinal Dystrophies1CTD_human
TgeneRPGRC1384666hearing impairment1CTD_human
TgeneRPGRC1844776CONE-ROD DYSTROPHY, X-LINKED, 11CTD_human;GENOMICS_ENGLAND
TgeneRPGRC3151784MACULAR DEGENERATION, X-LINKED ATROPHIC1CTD_human;GENOMICS_ENGLAND