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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: 31220

FusionGeneSummary for RHPN2_MACROD1

check button Fusion gene summary
Fusion gene informationFusion gene name: RHPN2_MACROD1
Fusion gene ID: 31220
HgeneTgene
Gene symbol

RHPN2

MACROD1

Gene ID

85415

28992

Gene namerhophilin Rho GTPase binding protein 2MACRO domain containing 1
SynonymsP76RBE|RHOBPLRP16
Cytomap

19q13.11

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionrhophilin-276 kDa RhoB effector proteinGTP-Rho-binding protein 2rhophilin-like Rho-GTPase binding proteinO-acetyl-ADP-ribose deacetylase MACROD1MACRO domain-containing protein 1[Protein ADP-ribosylglutamate] hydrolase
Modification date2018051920180519
UniProtAcc

Q8IUC4

Q9BQ69

Ensembl transtripts involved in fusion geneENST00000254260, ENST00000400226, 
ENST00000588683, 
ENST00000255681, 
ENST00000538595, 
Fusion gene scores* DoF score13 X 7 X 9=8196 X 4 X 6=144
# samples 146
** MAII scorelog2(14/819*10)=-2.54843662469604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RHPN2 [Title/Abstract] AND MACROD1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneMACROD1

GO:0042278

purine nucleoside metabolic process

21257746

TgeneMACROD1

GO:0051725

protein de-ADP-ribosylation

23474712


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
TCGALDUCSTCGA-N9-A4PZ-01ARHPN2chr19

33517410

-MACROD1chr11

63919865

-
* 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-shitENST00000254260ENST00000255681RHPN2chr19

33517410

-MACROD1chr11

63919865

-
5CDS-5UTRENST00000254260ENST00000538595RHPN2chr19

33517410

-MACROD1chr11

63919865

-
5UTR-3CDSENST00000400226ENST00000255681RHPN2chr19

33517410

-MACROD1chr11

63919865

-
5UTR-5UTRENST00000400226ENST00000538595RHPN2chr19

33517410

-MACROD1chr11

63919865

-
intron-3CDSENST00000588683ENST00000255681RHPN2chr19

33517410

-MACROD1chr11

63919865

-
intron-5UTRENST00000588683ENST00000538595RHPN2chr19

33517410

-MACROD1chr11

63919865

-

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FusionProtFeatures for RHPN2_MACROD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RHPN2

Q8IUC4

MACROD1

Q9BQ69

Binds specifically to GTP-Rho. May function in a Rhopathway to limit stress fiber formation and/or increase theturnover of F-actin structures in the absence of high levels ofRhoA activity. {ECO:0000269|PubMed:12221077}. Removes ADP-ribose from glutamate residues in proteinsbearing a single ADP-ribose moiety. Inactive towards proteinsbearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, asignaling molecule generated by the deacetylation of acetylatedlysine residues in histones and other proteins. Plays a role inestrogen signaling. Binds to androgen receptor (AR) and amplifiesthe transactivation function of AR in response to androgen. Mayplay an important role in carcinogenesis and/or progression ofhormone-dependent cancers by feed-forward mechanism that activatesESR1 transactivation. Could be an ESR1 coactivator, providing apositive feedback regulatory loop for ESR1 signal transduction.Could be involved in invasive growth by down-regulating CDH1 inendometrial cancer cells. Enhances ESR1-mediated transcriptionactivity. {ECO:0000269|PubMed:17893710,ECO:0000269|PubMed:17914104, ECO:0000269|PubMed:19022849,ECO:0000269|PubMed:19403568, ECO:0000269|PubMed:21257746,ECO:0000269|PubMed:23474712}.

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 RHPN2_MACROD1


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for RHPN2_MACROD1


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
RHPN2HNF1A, SFN, RHOA, RHOB, RARG, C9orf156, BCL2L11, TRIM25MACROD1BAG3, PARP1, IKBKG, XRCC6, XRCC5, IKBKB, ERC1, EIF2AK2, HNRNPU, CSTF3, YBX1, DHX9, DDX21, PPP2R1A, PTP4A1, H2AFX, PARP2, SUPT16H, HIST2H3PS2, XPC, SSRP1, HBA2, EXOC3, CETN2, LIG3, HBE1, RPA1, PTPN6, PTPN7, DLD


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 RHPN2_MACROD1


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 RHPN2_MACROD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRHPN2C0009404Colorectal Neoplasms1CTD_human