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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30498

FusionGeneSummary for RARRES3_TGFBI

check button Fusion gene summary
Fusion gene informationFusion gene name: RARRES3_TGFBI
Fusion gene ID: 30498
HgeneTgene
Gene symbol

RARRES3

TGFBI

Gene ID

5920

7045

Gene nameretinoic acid receptor responder 3transforming growth factor beta induced
SynonymsHRASLS4|HRSL4|PLA1/2-3|RIG1|TIG3BIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1
Cytomap

11q12.3

5q31.1

Type of geneprotein-codingprotein-coding
Descriptionretinoic acid receptor responder protein 3HRAS-like suppressor 4RAR-responsive protein TIG3retinoic acid receptor responder (tazarotene induced) 3retinoic acid-inducible gene 1retinoid-inducible gene 1 proteintazarotene-induced gene 3 proteintransforming growth factor-beta-induced protein ig-h3RGD-CAPRGD-containing collagen-associated proteinbeta ig-h3betaig-h3kerato-epithelintransforming growth factor beta-induced 68kDatransforming growth factor, beta-induced, 68kD
Modification date2018051920180527
UniProtAcc

Q9UL19

Q15582

Ensembl transtripts involved in fusion geneENST00000537871, ENST00000439013, 
ENST00000255688, ENST00000354445, 
ENST00000442011, ENST00000305126, 
ENST00000508076, ENST00000504185, 
Fusion gene scores* DoF score3 X 3 X 2=186 X 7 X 2=84
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/84*10)=-0.070389327891398
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RARRES3 [Title/Abstract] AND TGFBI [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneRARRES3

GO:0006644

phospholipid metabolic process

20100577


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBLCATCGA-E7-A7DV-01ARARRES3chr11

63313929

+TGFBIchr5

135396523

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shitENST00000537871ENST00000442011RARRES3chr11

63313929

+TGFBIchr5

135396523

+
Frame-shitENST00000537871ENST00000305126RARRES3chr11

63313929

+TGFBIchr5

135396523

+
5CDS-5UTRENST00000537871ENST00000508076RARRES3chr11

63313929

+TGFBIchr5

135396523

+
5CDS-intronENST00000537871ENST00000504185RARRES3chr11

63313929

+TGFBIchr5

135396523

+
intron-3CDSENST00000439013ENST00000442011RARRES3chr11

63313929

+TGFBIchr5

135396523

+
intron-3CDSENST00000439013ENST00000305126RARRES3chr11

63313929

+TGFBIchr5

135396523

+
intron-5UTRENST00000439013ENST00000508076RARRES3chr11

63313929

+TGFBIchr5

135396523

+
intron-intronENST00000439013ENST00000504185RARRES3chr11

63313929

+TGFBIchr5

135396523

+
Frame-shitENST00000255688ENST00000442011RARRES3chr11

63313929

+TGFBIchr5

135396523

+
Frame-shitENST00000255688ENST00000305126RARRES3chr11

63313929

+TGFBIchr5

135396523

+
5CDS-5UTRENST00000255688ENST00000508076RARRES3chr11

63313929

+TGFBIchr5

135396523

+
5CDS-intronENST00000255688ENST00000504185RARRES3chr11

63313929

+TGFBIchr5

135396523

+
In-frameENST00000354445ENST00000442011RARRES3chr11

63313929

+TGFBIchr5

135396523

+
In-frameENST00000354445ENST00000305126RARRES3chr11

63313929

+TGFBIchr5

135396523

+
5CDS-5UTRENST00000354445ENST00000508076RARRES3chr11

63313929

+TGFBIchr5

135396523

+
5CDS-intronENST00000354445ENST00000504185RARRES3chr11

63313929

+TGFBIchr5

135396523

+

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FusionProtFeatures for RARRES3_TGFBI


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RARRES3

Q9UL19

TGFBI

Q15582

Exhibits PLA1/2 activity, catalyzing the calcium-independent hydrolysis of acyl groups in variousphosphotidylcholines (PC) and phosphatidylethanolamine (PE). Formost substrates, PLA1 activity is much higher than PLA2 activity.N- and O-acylation activity is hardly detectable.{ECO:0000269|PubMed:19615464}.

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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FusionGeneSequence for RARRES3_TGFBI


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_RARRES3_ENST00000354445_chr11_63313929_+_TGFBI_ENST00000442011_chr5_135396523_+_315aa
MGLPEPKPKPGDLIEIFRLGTEHWALTIGDGYVIHLAPPSEYPGAGSSSVFSVLSNSAEVKRERLEDVVGGCCTRVNNSLDHEYQPRPVE
VIISSAKEMVGQKMKYSIVSRNCEHFVTQLRTGKSRCKQVEKAKVEVGVATALGILVVAGCSFAIRRYQKKATA_SSHKILC_KQLWGSQ
WR_ASPMPPAA_PSCPVSGVL_ILSSVSLSRWQKTDLIETRLKDQ_TAICPFKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRP

>In-frame_RARRES3_ENST00000354445_chr11_63313929_+_TGFBI_ENST00000305126_chr5_135396523_+_315aa
MGLPEPKPKPGDLIEIFRLGTEHWALTIGDGYVIHLAPPSEYPGAGSSSVFSVLSNSAEVKRERLEDVVGGCCTRVNNSLDHEYQPRPVE
VIISSAKEMVGQKMKYSIVSRNCEHFVTQLRTGKSRCKQVEKAKVEVGVATALGILVVAGCSFAIRRYQKKATA_SSHKILC_KQLWGSQ
WR_ASPMPPAA_PSCPVSGVL_ILSSVSLSRWQKTDLIETRLKDQ_TAICPFKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_RARRES3_ENST00000354445_chr11_63313929_+_TGFBI_ENST00000442011_chr5_135396523_+_945nt
ATGGGGCTGCCTGAACCAAAGCCCAAACCTGGAGACCTGATTGAGATTTTCCGCCTTGGCTATGAGCACTGGGCCCTGTATATAGGAGAT
GGCTACGTGATCCATCTGGCTCCTCCAAGTGAGTACCCCGGGGCTGGCTCCTCCAGTGTCTTCTCAGTCCTGAGCAACAGTGCAGAGGTG
AAACGGGAGCGCCTGGAAGATGTGGTGGGAGGCTGTTGCTATCGGGTCAACAACAGCTTGGACCATGAGTACCAACCACGGCCCGTGGAG
GTGATCATCAGTTCTGCGAAGGAGATGGTTGGTCAGAAGATGAAGTACAGTATTGTGAGCAGGAACTGTGAGCACTTTGTCACCCAGCTG
AGATATGGCAAGTCCCGCTGTAAACAGGTGGAAAAGGCCAAGGTTGAAGTTGGTGTGGCCACGGCGCTTGGAATCCTGGTTGTTGCTGGA
TGCTCTTTTGCGATTAGGAGATACCAAAAAAAAGCGACAGCCTGAAGCAGCCACAAAATCCTGTGTTAGAAGCAGCTGTGGGGGTCCCAG
TGGAGATGAGCCTCCCCCATGCCTCCAGCAGCCTGACCCTCGTGCCCTGTCTCAGGCGTTCTCTAGATCCTTTCCTCTGTTTCCCTCTCT
CGCTGGCAAAAGTATGATCTAATTGAAACAAGACTGAAGGATCAATAAACAGCCATCTGCCCCTTCAAAAACAATGTGGTGAGTGTCAAC
AAGGAGCCTGTTGCCGAGCCTGACATCATGGCCACAAATGGCGTGGTCCATGTCATCACCAATGTTCTGCAGCCTCCAGCCAACAGACCT
CAGGAAAGAGGGGATGAACTTGCAGACTCTGCGCTTGAGATCTTCAAACAAGCATCAGCGTTTTCCAGGGCTTCCCAGAGGTCTGTGCGA

>In-frame_RARRES3_ENST00000354445_chr11_63313929_+_TGFBI_ENST00000305126_chr5_135396523_+_945nt
ATGGGGCTGCCTGAACCAAAGCCCAAACCTGGAGACCTGATTGAGATTTTCCGCCTTGGCTATGAGCACTGGGCCCTGTATATAGGAGAT
GGCTACGTGATCCATCTGGCTCCTCCAAGTGAGTACCCCGGGGCTGGCTCCTCCAGTGTCTTCTCAGTCCTGAGCAACAGTGCAGAGGTG
AAACGGGAGCGCCTGGAAGATGTGGTGGGAGGCTGTTGCTATCGGGTCAACAACAGCTTGGACCATGAGTACCAACCACGGCCCGTGGAG
GTGATCATCAGTTCTGCGAAGGAGATGGTTGGTCAGAAGATGAAGTACAGTATTGTGAGCAGGAACTGTGAGCACTTTGTCACCCAGCTG
AGATATGGCAAGTCCCGCTGTAAACAGGTGGAAAAGGCCAAGGTTGAAGTTGGTGTGGCCACGGCGCTTGGAATCCTGGTTGTTGCTGGA
TGCTCTTTTGCGATTAGGAGATACCAAAAAAAAGCGACAGCCTGAAGCAGCCACAAAATCCTGTGTTAGAAGCAGCTGTGGGGGTCCCAG
TGGAGATGAGCCTCCCCCATGCCTCCAGCAGCCTGACCCTCGTGCCCTGTCTCAGGCGTTCTCTAGATCCTTTCCTCTGTTTCCCTCTCT
CGCTGGCAAAAGTATGATCTAATTGAAACAAGACTGAAGGATCAATAAACAGCCATCTGCCCCTTCAAAAACAATGTGGTGAGTGTCAAC
AAGGAGCCTGTTGCCGAGCCTGACATCATGGCCACAAATGGCGTGGTCCATGTCATCACCAATGTTCTGCAGCCTCCAGCCAACAGACCT
CAGGAAAGAGGGGATGAACTTGCAGACTCTGCGCTTGAGATCTTCAAACAAGCATCAGCGTTTTCCAGGCCTGAGCAGCCTCAGGTCCTC


* Fusion transcript sequences (Full-length transcript).
>In-frame_RARRES3_ENST00000354445_chr11_63313929_+_TGFBI_ENST00000442011_chr5_135396523_+_1536nt
ATGGGGCTGCCTGAACCAAAGCCCAAACCTGGAGACCTGATTGAGATTTTCCGCCTTGGCTATGAGCACTGGGCCCTGTATATAGGAGAT
GGCTACGTGATCCATCTGGCTCCTCCAAGTGAGTACCCCGGGGCTGGCTCCTCCAGTGTCTTCTCAGTCCTGAGCAACAGTGCAGAGGTG
AAACGGGAGCGCCTGGAAGATGTGGTGGGAGGCTGTTGCTATCGGGTCAACAACAGCTTGGACCATGAGTACCAACCACGGCCCGTGGAG
GTGATCATCAGTTCTGCGAAGGAGATGGTTGGTCAGAAGATGAAGTACAGTATTGTGAGCAGGAACTGTGAGCACTTTGTCACCCAGCTG
AGATATGGCAAGTCCCGCTGTAAACAGGTGGAAAAGGCCAAGGTTGAAGTTGGTGTGGCCACGGCGCTTGGAATCCTGGTTGTTGCTGGA
TGCTCTTTTGCGATTAGGAGATACCAAAAAAAAGCGACAGCCTGAAGCAGCCACAAAATCCTGTGTTAGAAGCAGCTGTGGGGGTCCCAG
TGGAGATGAGCCTCCCCCATGCCTCCAGCAGCCTGACCCTCGTGCCCTGTCTCAGGCGTTCTCTAGATCCTTTCCTCTGTTTCCCTCTCT
CGCTGGCAAAAGTATGATCTAATTGAAACAAGACTGAAGGATCAATAAACAGCCATCTGCCCCTTCAAAAACAATGTGGTGAGTGTCAAC
AAGGAGCCTGTTGCCGAGCCTGACATCATGGCCACAAATGGCGTGGTCCATGTCATCACCAATGTTCTGCAGCCTCCAGCCAACAGACCT
CAGGAAAGAGGGGATGAACTTGCAGACTCTGCGCTTGAGATCTTCAAACAAGCATCAGCGTTTTCCAGGGCTTCCCAGAGGTCTGTGCGA
CTAGCCCCTGTCTATCAAAAGTTATTAGAGAGGATGAAGCATTAGCTTGAAGCACTACAGGAGGAATGCACCACGGCAGCTCTCCGCCAA
TTTCTCTCAGATTTCCACAGAGACTGTTTGAATGTTTTCAAAACCAAGTATCACACTTTAATGTACATGGGCCGCACCATAATGAGATGT
GAGCCTTGTGCATGTGGGGGAGGAGGGAGAGAGATGTACTTTTTAAATCATGTTCCCCCTAAACATGGCTGTTAACCCACTGCATGCAGA
AACTTGGATGTCACTGCCTGACATTCACTTCCAGAGAGGACCTATCCCAAATGTGGAATTGACTGCCTATGCCAAGTCCCTGGAAAAGGA
GCTTCAGTATTGTGGGGCTCATAAAACATGAATCAAGCAATCCAGCCTCATGGGAAGTCCTGGCACAGTTTTTGTAAAGCCCTTGCACAG
CTGGAGAAATGGCATCATTATAAGCTATGAGTTGAAATGTTCTGTCAAATGTGTCTCACATCTACACGTGGCTTGGAGGCTTTTATGGGG
CCCTGTCCAGGTAGAAAAGAAATGGTATGTAGAGCTTAGATTTCCCTATTGTGACAGAGCCATGGTGTGTTTGTAATAATAAAACCAAAG

>In-frame_RARRES3_ENST00000354445_chr11_63313929_+_TGFBI_ENST00000305126_chr5_135396523_+_1534nt
ATGGGGCTGCCTGAACCAAAGCCCAAACCTGGAGACCTGATTGAGATTTTCCGCCTTGGCTATGAGCACTGGGCCCTGTATATAGGAGAT
GGCTACGTGATCCATCTGGCTCCTCCAAGTGAGTACCCCGGGGCTGGCTCCTCCAGTGTCTTCTCAGTCCTGAGCAACAGTGCAGAGGTG
AAACGGGAGCGCCTGGAAGATGTGGTGGGAGGCTGTTGCTATCGGGTCAACAACAGCTTGGACCATGAGTACCAACCACGGCCCGTGGAG
GTGATCATCAGTTCTGCGAAGGAGATGGTTGGTCAGAAGATGAAGTACAGTATTGTGAGCAGGAACTGTGAGCACTTTGTCACCCAGCTG
AGATATGGCAAGTCCCGCTGTAAACAGGTGGAAAAGGCCAAGGTTGAAGTTGGTGTGGCCACGGCGCTTGGAATCCTGGTTGTTGCTGGA
TGCTCTTTTGCGATTAGGAGATACCAAAAAAAAGCGACAGCCTGAAGCAGCCACAAAATCCTGTGTTAGAAGCAGCTGTGGGGGTCCCAG
TGGAGATGAGCCTCCCCCATGCCTCCAGCAGCCTGACCCTCGTGCCCTGTCTCAGGCGTTCTCTAGATCCTTTCCTCTGTTTCCCTCTCT
CGCTGGCAAAAGTATGATCTAATTGAAACAAGACTGAAGGATCAATAAACAGCCATCTGCCCCTTCAAAAACAATGTGGTGAGTGTCAAC
AAGGAGCCTGTTGCCGAGCCTGACATCATGGCCACAAATGGCGTGGTCCATGTCATCACCAATGTTCTGCAGCCTCCAGCCAACAGACCT
CAGGAAAGAGGGGATGAACTTGCAGACTCTGCGCTTGAGATCTTCAAACAAGCATCAGCGTTTTCCAGGCCTGAGCAGCCTCAGGTCCTC
TGTTCCCCTGTCTATCAAAAGTTATTAGAGAGGATGAAGCATTAGCTTGAAGCACTACAGGAGGAATGCACCACGGCAGCTCTCCGCCAA
TTTCTCTCAGATTTCCACAGAGACTGTTTGAATGTTTTCAAAACCAAGTATCACACTTTAATGTACATGGGCCGCACCATAATGAGATGT
GAGCCTTGTGCATGTGGGGGAGGAGGGAGAGAGATGTACTTTTTAAATCATGTTCCCCCTAAACATGGCTGTTAACCCACTGCATGCAGA
AACTTGGATGTCACTGCCTGACATTCACTTCCAGAGAGGACCTATCCCAAATGTGGAATTGACTGCCTATGCCAAGTCCCTGGAAAAGGA
GCTTCAGTATTGTGGGGCTCATAAAACATGAATCAAGCAATCCAGCCTCATGGGAAGTCCTGGCACAGTTTTTGTAAAGCCCTTGCACAG
CTGGAGAAATGGCATCATTATAAGCTATGAGTTGAAATGTTCTGTCAAATGTGTCTCACATCTACACGTGGCTTGGAGGCTTTTATGGGG
CCCTGTCCAGGTAGAAAAGAAATGGTATGTAGAGCTTAGATTTCCCTATTGTGACAGAGCCATGGTGTGTTTGTAATAATAAAACCAAAG


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FusionGenePPI for RARRES3_TGFBI


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
RARRES3TRIM25, TNFAIP3, HSP90AA1, UBE2I, MAVS, TRAT1, YWHAE, PTGDS, SGTA, SDC4, CYLD, RNF123, RNF135TGFBIFN1, FAM9B


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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RelatedDrugs for RARRES3_TGFBI


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RARRES3_TGFBI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTGFBIC1690006Lattice corneal dystrophy Type I12CTD_human;ORPHANET;UNIPROT
TgeneTGFBIC1641846Groenouw corneal dystrophy type I (disorder)7CTD_human;ORPHANET;UNIPROT
TgeneTGFBIC1275685Avellino corneal dystrophy6CTD_human;ORPHANET;UNIPROT
TgeneTGFBIC0339278Reis-Bucklers' corneal dystrophy5CTD_human;ORPHANET;UNIPROT
TgeneTGFBIC1837974Corneal Dystrophy, Lattice Type IIIA5CTD_human;UNIPROT
TgeneTGFBIC1562894Thiel-Behnke corneal dystrophy4CTD_human;ORPHANET;UNIPROT
TgeneTGFBIC0000786Spontaneous abortion1CTD_human
TgeneTGFBIC0011881Diabetic Nephropathy1CTD_human
TgeneTGFBIC0521723Corneal dystrophy, epithelial basement membrane1CTD_human;ORPHANET;UNIPROT