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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: 31216

FusionGeneSummary for RHPN2_CD2AP

check button Fusion gene summary
Fusion gene informationFusion gene name: RHPN2_CD2AP
Fusion gene ID: 31216
HgeneTgene
Gene symbol

RHPN2

CD2AP

Gene ID

85415

23607

Gene namerhophilin Rho GTPase binding protein 2CD2 associated protein
SynonymsP76RBE|RHOBPCMS
Cytomap

19q13.11

6p12.3

Type of geneprotein-codingprotein-coding
Descriptionrhophilin-276 kDa RhoB effector proteinGTP-Rho-binding protein 2rhophilin-like Rho-GTPase binding proteinCD2-associated proteinCas ligand with multiple Src homology 3 (SH3) domainsadapter protein CMScas ligand with multiple SH3 domains
Modification date2018051920180522
UniProtAcc

Q8IUC4

Q9Y5K6

Ensembl transtripts involved in fusion geneENST00000254260, ENST00000400226, 
ENST00000588683, 
ENST00000359314, 
ENST00000486693, 
Fusion gene scores* DoF score13 X 7 X 9=8197 X 7 X 5=245
# samples 147
** MAII scorelog2(14/819*10)=-2.54843662469604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RHPN2 [Title/Abstract] AND CD2AP [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

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
ChiTaRS3.1AA470830RHPN2chr19

33469801

+CD2APchr6

47489474

-
* 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
intron-intronENST00000254260ENST00000359314RHPN2chr19

33469801

+CD2APchr6

47489474

-
intron-intronENST00000254260ENST00000486693RHPN2chr19

33469801

+CD2APchr6

47489474

-
intron-intronENST00000400226ENST00000359314RHPN2chr19

33469801

+CD2APchr6

47489474

-
intron-intronENST00000400226ENST00000486693RHPN2chr19

33469801

+CD2APchr6

47489474

-
intron-intronENST00000588683ENST00000359314RHPN2chr19

33469801

+CD2APchr6

47489474

-
intron-intronENST00000588683ENST00000486693RHPN2chr19

33469801

+CD2APchr6

47489474

-

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FusionProtFeatures for RHPN2_CD2AP


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

Q8IUC4

CD2AP

Q9Y5K6

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}. Seems to act as an adapter protein between membraneproteins and the actin cytoskeleton (PubMed:10339567). Incollaboration with CBLC, modulates the rate of RET turnover andmay act as regulatory checkpoint that limits the potency of GDNFon neuronal survival. Controls CBLC function, converting it froman inhibitor to a promoter of RET degradation (By similarity). Mayplay a role in receptor clustering and cytoskeletal polarity inthe junction between T-cell and antigen-presenting cell (Bysimilarity). May anchor the podocyte slit diaphragm to the actincytoskeleton in renal glomerolus. Also required for cytokinesis(PubMed:15800069). Plays a role in epithelial cell junctionsformation (PubMed:22891260). {ECO:0000250|UniProtKB:F1LRS8,ECO:0000250|UniProtKB:Q9JLQ0, ECO:0000269|PubMed:10339567,ECO:0000269|PubMed:15800069, ECO:0000269|PubMed:22891260}.

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_CD2AP


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_CD2AP


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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RelatedDrugs for RHPN2_CD2AP


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_CD2AP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRHPN2C0009404Colorectal Neoplasms1CTD_human
TgeneCD2APC0002395Alzheimer's Disease2CTD_human