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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:RGS12-SH3KBP1 (FusionGDB2 ID:73337)

Fusion Gene Summary for RGS12-SH3KBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: RGS12-SH3KBP1
Fusion gene ID: 73337
HgeneTgene
Gene symbol

RGS12

SH3KBP1

Gene ID

6002

30011

Gene nameregulator of G protein signaling 12SH3 domain containing kinase binding protein 1
Synonyms-AGMX2|CD2BP3|CIN85|GIG10|HSB-1|HSB1|IMD61|MIG18
Cytomap

4p16.3

Xp22.12

Type of geneprotein-codingprotein-coding
Descriptionregulator of G-protein signaling 12regulator of G-protein signalling 12SH3 domain-containing kinase-binding protein 1CD2-binding protein 3SH3-domain kinase binding protein 1Src family kinase-binding protein 1c-Cbl-interacting proteincbl-interacting protein of 85 kDahuman Src family kinase-binding protein 1migration-in
Modification date2020031320200327
UniProtAcc.

SHKBP1

Ensembl transtripts involved in fusion geneENST00000543385, ENST00000336727, 
ENST00000344733, ENST00000382788, 
ENST00000306648, ENST00000338806, 
ENST00000508158, ENST00000538395, 
ENST00000397821, ENST00000379716, 
ENST00000379698, ENST00000541422, 
ENST00000379697, ENST00000477102, 
Fusion gene scores* DoF score10 X 8 X 7=56015 X 16 X 7=1680
# samples 1016
** MAII scorelog2(10/560*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1680*10)=-3.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RGS12 [Title/Abstract] AND SH3KBP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRGS12(3372048)-SH3KBP1(19725102), # samples:2
Anticipated loss of major functional domain due to fusion event.RGS12-SH3KBP1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
RGS12-SH3KBP1 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 RGS12 (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 SH3KBP1 (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
ChimerDB4ESCATCGA-L5-A8NWRGS12chr4

3372048

+SH3KBP1chrX

19725102

-
ChimerDB4ESCATCGA-L5-A8NWRGS12chr4

3372048

+SH3KBP1chrX

19725102

-


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Fusion Gene ORF analysis for RGS12-SH3KBP1

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-3CDSENST00000543385ENST00000397821RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000543385ENST00000379716RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000543385ENST00000379698RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000543385ENST00000541422RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000543385ENST00000379697RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000543385ENST00000477102RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-3CDSENST00000336727ENST00000397821RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000336727ENST00000379716RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000336727ENST00000379698RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000336727ENST00000541422RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000336727ENST00000379697RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000336727ENST00000477102RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-3CDSENST00000344733ENST00000397821RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000344733ENST00000379716RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000344733ENST00000379698RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000344733ENST00000541422RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000344733ENST00000379697RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000344733ENST00000477102RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-3CDSENST00000382788ENST00000397821RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000382788ENST00000379716RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000382788ENST00000379698RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000382788ENST00000541422RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000382788ENST00000379697RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000382788ENST00000477102RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-3CDSENST00000306648ENST00000397821RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000306648ENST00000379716RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000306648ENST00000379698RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000306648ENST00000541422RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000306648ENST00000379697RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000306648ENST00000477102RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
Frame-shiftENST00000338806ENST00000397821RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
5CDS-intronENST00000338806ENST00000379716RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
5CDS-intronENST00000338806ENST00000379698RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
5CDS-intronENST00000338806ENST00000541422RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
5CDS-intronENST00000338806ENST00000379697RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
5CDS-intronENST00000338806ENST00000477102RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-3CDSENST00000508158ENST00000397821RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000508158ENST00000379716RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000508158ENST00000379698RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000508158ENST00000541422RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000508158ENST00000379697RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000508158ENST00000477102RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-3CDSENST00000538395ENST00000397821RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000538395ENST00000379716RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000538395ENST00000379698RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000538395ENST00000541422RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000538395ENST00000379697RGS12chr4

3372048

+SH3KBP1chrX

19725102

-
intron-intronENST00000538395ENST00000477102RGS12chr4

3372048

+SH3KBP1chrX

19725102

-

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 RGS12-SH3KBP1


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 RGS12-SH3KBP1


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
.SH3KBP1

SHKBP1

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.707

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 RGS12-SH3KBP1


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 RGS12-SH3KBP1


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 RGS12-SH3KBP1


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 RGS12-SH3KBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRGS12C0036341Schizophrenia1CTD_human
TgeneSH3KBP1C0007102Malignant tumor of colon1CTD_human
TgeneSH3KBP1C0009375Colonic Neoplasms1CTD_human