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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:RAB11B-SLC5A6 (FusionGDB2 ID:70686)

Fusion Gene Summary for RAB11B-SLC5A6

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB11B-SLC5A6
Fusion gene ID: 70686
HgeneTgene
Gene symbol

RAB11B

SLC5A6

Gene ID

339122

8884

Gene nameRAB43, member RAS oncogene familysolute carrier family 5 member 6
SynonymsRAB11B|RAB41SMVT
Cytomap

3q21.3

2p23.3

Type of geneprotein-codingprotein-coding
Descriptionras-related protein Rab-43ras-related protein Rab-41sodium-dependent multivitamin transporterNa(+)-dependent multivitamin transporterNa+-dependent multivitamin transportersolute carrier family 5 (sodium-dependent vitamin transporter), member 6solute carrier family 5 (sodium/multivitamin and iodide cotr
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000328024, ENST00000601897, 
ENST00000594216, 
ENST00000310574, 
ENST00000408041, ENST00000461319, 
Fusion gene scores* DoF score10 X 6 X 6=3602 X 2 X 2=8
# samples 102
** MAII scorelog2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: RAB11B [Title/Abstract] AND SLC5A6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRAB11B(8469049)-SLC5A6(27423959), # 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

check buttonFusion gene breakpoints across RAB11B (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 SLC5A6 (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/ABQ022479RAB11Bchr19

8469049

-SLC5A6chr2

27423959

+


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Fusion Gene ORF analysis for RAB11B-SLC5A6

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
3UTR-3CDSENST00000328024ENST00000310574RAB11Bchr19

8469049

-SLC5A6chr2

27423959

+
3UTR-3CDSENST00000328024ENST00000408041RAB11Bchr19

8469049

-SLC5A6chr2

27423959

+
3UTR-intronENST00000328024ENST00000461319RAB11Bchr19

8469049

-SLC5A6chr2

27423959

+
intron-3CDSENST00000601897ENST00000310574RAB11Bchr19

8469049

-SLC5A6chr2

27423959

+
intron-3CDSENST00000601897ENST00000408041RAB11Bchr19

8469049

-SLC5A6chr2

27423959

+
intron-intronENST00000601897ENST00000461319RAB11Bchr19

8469049

-SLC5A6chr2

27423959

+
intron-3CDSENST00000594216ENST00000310574RAB11Bchr19

8469049

-SLC5A6chr2

27423959

+
intron-3CDSENST00000594216ENST00000408041RAB11Bchr19

8469049

-SLC5A6chr2

27423959

+
intron-intronENST00000594216ENST00000461319RAB11Bchr19

8469049

-SLC5A6chr2

27423959

+

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 RAB11B-SLC5A6


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 RAB11B-SLC5A6


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 RAB11B-SLC5A6


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 RAB11B-SLC5A6


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 RAB11B-SLC5A6


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 RAB11B-SLC5A6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAB11BC0019693HIV Infections1CTD_human
HgeneRAB11BC3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneRAB11BC4505456HIV Coinfection1CTD_human
HgeneRAB11BC4540498NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER1GENOMICS_ENGLAND;UNIPROT
TgeneSLC5A6C0557874Global developmental delay2GENOMICS_ENGLAND
TgeneSLC5A6C0014544Epilepsy1GENOMICS_ENGLAND
TgeneSLC5A6C0015544Failure to Thrive1GENOMICS_ENGLAND
TgeneSLC5A6C0017181Gastrointestinal Hemorrhage1GENOMICS_ENGLAND
TgeneSLC5A6C0025958Microcephaly1GENOMICS_ENGLAND
TgeneSLC5A6C0027746Nerve Degeneration1GENOMICS_ENGLAND
TgeneSLC5A6C0029453Osteopenia1GENOMICS_ENGLAND
TgeneSLC5A6C0036572Seizures1GENOMICS_ENGLAND
TgeneSLC5A6C0042963Vomiting1GENOMICS_ENGLAND
TgeneSLC5A6C0232466Feeding difficulties1GENOMICS_ENGLAND
TgeneSLC5A6C0235946Cerebral atrophy1GENOMICS_ENGLAND
TgeneSLC5A6C0401151Chronic diarrhea1GENOMICS_ENGLAND
TgeneSLC5A6C0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneSLC5A6C1836830Developmental regression1GENOMICS_ENGLAND
TgeneSLC5A6C1842581Abnormal corpus callosum morphology1GENOMICS_ENGLAND
TgeneSLC5A6C1855755Abnormal immunoglobulin level1GENOMICS_ENGLAND
TgeneSLC5A6C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneSLC5A6C4021768Abnormality of metabolism/homeostasis1GENOMICS_ENGLAND