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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:RBM6-RNF123

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RBM6-RNF123
FusionPDB ID: 72991
FusionGDB2.0 ID: 72991
HgeneTgene
Gene symbol

RBM6

RNF123

Gene ID

10180

63891

Gene nameRNA binding motif protein 6ring finger protein 123
Synonyms3G2|DEF-3|DEF3|HLC-11|NY-LU-12|g16FP1477|KPC1
Cytomap

3p21.31

3p21.31

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein 6RNA-binding protein DEF-3lung cancer antigen NY-LU-12lung cancer protooncogene 11E3 ubiquitin-protein ligase RNF123Kip1 ubiquitination-promoting complex subunit 1RING-type E3 ubiquitin transferase RNF123kip1 ubiquitination-promoting complex protein 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000441115, ENST00000266022, 
ENST00000443081, ENST00000422955, 
ENST00000442092, ENST00000539992, 
ENST00000421682, 
ENST00000327697, 
ENST00000432042, ENST00000433785, 
ENST00000497099, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score31 X 22 X 13=88663 X 11 X 3=99
# samples 316
** MAII scorelog2(31/8866*10)=-4.83794324189103
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/99*10)=-0.722466024471091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RBM6 [Title/Abstract] AND RNF123 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RBM6(49977658)-RNF123(49749912), # samples:2
Anticipated loss of major functional domain due to fusion event.RBM6-RNF123 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RBM6-RNF123 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RBM6-RNF123 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
RBM6-RNF123 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
RBM6-RNF123 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RBM6-RNF123 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
RBM6-RNF123 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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

check buttonFusion gene breakpoints across RBM6 (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 RNF123 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4STADTCGA-BR-7716-01ARBM6chr3

50006181

+RNF123chr3

49749912

+
ChimerDB4STADTCGA-VQ-A91N-01ARBM6chr3

49977658

+RNF123chr3

49742417

+
ChimerDB4STADTCGA-VQ-A91N-01ARBM6chr3

49977658

+RNF123chr3

49743415

+
ChimerDB4STADTCGA-VQ-A91N-01ARBM6chr3

49977658

+RNF123chr3

49744224

+
ChimerDB4STADTCGA-VQ-A91N-01ARBM6chr3

49977658

-RNF123chr3

49749912

+
ChimerDB4STADTCGA-VQ-A91N-01ARBM6chr3

49977658

+RNF123chr3

49749912

+
ChimerDB4STADTCGA-VQ-A91NRBM6chr3

49977658

+RNF123chr3

49742416

+
ChimerDB4STADTCGA-VQ-A91NRBM6chr3

49977658

+RNF123chr3

49743414

+
ChimerDB4STADTCGA-VQ-A91NRBM6chr3

49977658

+RNF123chr3

49744223

+
ChimerDB4STADTCGA-VQ-A91NRBM6chr3

49977658

+RNF123chr3

49749911

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000266022RBM6chr350006181+ENST00000327697RNF123chr349749912+325315822593030923
ENST00000443081RBM6chr350006181+ENST00000327697RNF123chr349749912+351718468593294811

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
ENST00000266022ENST00000327697RBM6chr350006181+RNF123chr349749912+0.0042142970.99578565
ENST00000443081ENST00000327697RBM6chr350006181+RNF123chr349749912+0.0043226560.9956774

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>72991_72991_1_RBM6-RNF123_RBM6_chr3_50006181_ENST00000266022_RNF123_chr3_49749912_ENST00000327697_length(amino acids)=923AA_BP=439
MWGDSRPANRTGPFRGSQEERFAPGWNRDYPPPPLKSHAQERHSGNFPGRDSLPFDFQGHSGPPFANVEEHSFSYGARDGPHGDYRGGEG
PGHDFRGGDFSSSDFQSRDSSQLDFRGRDIHSGDFRDREGPPMDYRGGDGTSMDYRGREAPHMNYRDRDAHAVDFRGRDAPPSDFRGRGT
YDLDFRGRDGSHADFRGRDLSDLDFRAREQSRSDFRNRDVSDLDFRDKDGTQVDFRGRGSGTTDLDFRDRDTPHSDFRGRHRSRTDQDFR
GREMGSCMEFKDREMPPVDPNILDYIQPSTQDREHSGMNVNRREESTHDHTIERPAFGIQKGEFEHSETREGETQGVAFEHESPADFQNS
QSPVQDQDKSQLSGREEQSSDAGLFKEEGGLDFLGRQDTDYRSMEYRDVDHRLPGSQMFGYGQSKSFPEGKTARDAQRDLQEKMLDIYWL
LRVCLRTIEHGDRTGSLFAFMPEFYLSVAINSYSALKNYFGPVHSMEELPGYEETLTRLAAILAKHFADARIVGTDIRDSLMQALASYVC
YPHSLRAVERIPEEQRIAMVRNLLAPYEQRPWAQTNWILVRLWRGCGFGYRYTRLPHLLKTKLEDANLPSLQKPCPSTLLQQHMADLLQQ
GPDVAPSFLNSVLNQLNWAFSEFIGMIQEIQQAAERLERNFVDSRQLKVCATCFDLSVSLLRVLEMTITLVPEIFLDWTRPTSEMLLRRL
AQLLNQVLNRVTAERNLFDRVVTLRLPGLESVDHYPILVAVTGILVQLLVRGPASEREQATSVLLADPCFQLRSICYLLGQPEPPAPGTA
LPAPDRKRFSLQSYADYISADELAQVEQMLAHLTSASAQAAAASLPTSEEDLCPICYAHPISAVFQPCGHKSCKACINQHLMNNKDCFFC

--------------------------------------------------------------

>72991_72991_2_RBM6-RNF123_RBM6_chr3_50006181_ENST00000443081_RNF123_chr3_49749912_ENST00000327697_length(amino acids)=811AA_BP=327
MDFRGRDIHSGDFRDREGPPMDYRGGDGTSMDYRGREAPHMNYRDRDAHAVDFRGRDAPPSDFRGRGTYDLDFRGRDGSHADFRGRDLSD
LDFRAREQSRSDFRNRDVSDLDFRDKDGTQVDFRGRGSGTTDLDFRDRDTPHSDFRGRHRSRTDQDFRGREMGSCMEFKDREMPPVDPNI
LDYIQPSTQDREHSGMNVNRREESTHDHTIERPAFGIQKGEFEHSETREGETQGVAFEHESPADFQNSQSPVQDQDKSQLSGREEQSSDA
GLFKEEGGLDFLGRQDTDYRSMEYRDVDHRLPGSQMFGYGQSKSFPEGKTARDAQRDLQEKMLDIYWLLRVCLRTIEHGDRTGSLFAFMP
EFYLSVAINSYSALKNYFGPVHSMEELPGYEETLTRLAAILAKHFADARIVGTDIRDSLMQALASYVCYPHSLRAVERIPEEQRIAMVRN
LLAPYEQRPWAQTNWILVRLWRGCGFGYRYTRLPHLLKTKLEDANLPSLQKPCPSTLLQQHMADLLQQGPDVAPSFLNSVLNQLNWAFSE
FIGMIQEIQQAAERLERNFVDSRQLKVCATCFDLSVSLLRVLEMTITLVPEIFLDWTRPTSEMLLRRLAQLLNQVLNRVTAERNLFDRVV
TLRLPGLESVDHYPILVAVTGILVQLLVRGPASEREQATSVLLADPCFQLRSICYLLGQPEPPAPGTALPAPDRKRFSLQSYADYISADE
LAQVEQMLAHLTSASAQAAAASLPTSEEDLCPICYAHPISAVFQPCGHKSCKACINQHLMNNKDCFFCKTTIVSVEDWEKGANTSTTSSA

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr3:49977658/chr3:49749912)
- 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
..
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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneRNF123chr3:50006181chr3:49749912ENST0000032769725391237_1244832.01315.0Compositional biasNote=Poly-Ala
TgeneRNF123chr3:50006181chr3:49749912ENST0000032769725391254_1292832.01315.0Zinc fingerRING-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRBM6chr3:50006181chr3:49749912ENST00000266022+321826_829441.01124.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50006181chr3:49749912ENST00000266022+321892_895441.01124.0Compositional biasNote=Poly-Pro
HgeneRBM6chr3:50006181chr3:49749912ENST00000266022+321915_921441.01124.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50006181chr3:49749912ENST00000422955+119826_8290602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50006181chr3:49749912ENST00000422955+119892_8950602.0Compositional biasNote=Poly-Pro
HgeneRBM6chr3:50006181chr3:49749912ENST00000422955+119915_9210602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50006181chr3:49749912ENST00000442092+117826_8290602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50006181chr3:49749912ENST00000442092+117892_8950602.0Compositional biasNote=Poly-Pro
HgeneRBM6chr3:50006181chr3:49749912ENST00000442092+117915_9210602.0Compositional biasNote=Poly-Glu
HgeneRBM6chr3:50006181chr3:49749912ENST00000266022+3211051_1097441.01124.0DomainG-patch
HgeneRBM6chr3:50006181chr3:49749912ENST00000266022+321456_536441.01124.0DomainRRM
HgeneRBM6chr3:50006181chr3:49749912ENST00000422955+1191051_10970602.0DomainG-patch
HgeneRBM6chr3:50006181chr3:49749912ENST00000422955+119456_5360602.0DomainRRM
HgeneRBM6chr3:50006181chr3:49749912ENST00000442092+1171051_10970602.0DomainG-patch
HgeneRBM6chr3:50006181chr3:49749912ENST00000442092+117456_5360602.0DomainRRM
TgeneRNF123chr3:50006181chr3:49749912ENST00000327697253974_254832.01315.0DomainB30.2/SPRY


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
RBM6
RNF123


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to RBM6-RNF123


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to RBM6-RNF123


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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