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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: 24618

FusionGeneSummary for NOSIP_RCN3

check button Fusion gene summary
Fusion gene informationFusion gene name: NOSIP_RCN3
Fusion gene ID: 24618
HgeneTgene
Gene symbol

NOSIP

RCN3

Gene ID

51070

57333

Gene namenitric oxide synthase interacting proteinreticulocalbin 3
SynonymsCGI-25RLP49
Cytomap

19q13.33

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionnitric oxide synthase-interacting proteinE3 ubiquitin-protein ligase NOSIPRING-type E3 ubiquitin transferase NOSIPeNOS-interacting proteinreticulocalbin-3EF-hand calcium-binding protein RLP49reticulocabinreticulocalbin 3, EF-hand calcium binding domain
Modification date2018052420180523
UniProtAcc

Q9Y314

Q96D15

Ensembl transtripts involved in fusion geneENST00000339093, ENST00000596358, 
ENST00000391853, 
ENST00000270645, 
ENST00000593644, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NOSIP [Title/Abstract] AND RCN3 [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
HgeneNOSIP

GO:0043086

negative regulation of catalytic activity

11149895

HgeneNOSIP

GO:0051001

negative regulation of nitric-oxide synthase activity

11149895


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
TCGARVUCSTCGA-N9-A4PZ-01ANOSIPchr19

50063191

-RCN3chr19

50040290

+
* 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
In-frameENST00000339093ENST00000270645NOSIPchr19

50063191

-RCN3chr19

50040290

+
5CDS-3UTRENST00000339093ENST00000593644NOSIPchr19

50063191

-RCN3chr19

50040290

+
In-frameENST00000596358ENST00000270645NOSIPchr19

50063191

-RCN3chr19

50040290

+
5CDS-3UTRENST00000596358ENST00000593644NOSIPchr19

50063191

-RCN3chr19

50040290

+
Frame-shiftENST00000391853ENST00000270645NOSIPchr19

50063191

-RCN3chr19

50040290

+
5CDS-3UTRENST00000391853ENST00000593644NOSIPchr19

50063191

-RCN3chr19

50040290

+

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FusionProtFeatures for NOSIP_RCN3


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

Q9Y314

RCN3

Q96D15

E3 ubiquitin-protein ligase that is essential for properdevelopment of the forebrain, the eye, and the face. Catalyzesmonoubiquitination of serine/threonine-protein phosphatase 2A(PP2A) catalytic subunit PPP2CA/PPP2CB (By similarity). Negativelyregulates nitric oxide production by inducing NOS1 and NOS3translocation to actin cytoskeleton and inhibiting their enzymaticactivity (PubMed:11149895, PubMed:15548660, PubMed:16135813).{ECO:0000250|UniProtKB:Q9D6T0, ECO:0000269|PubMed:11149895,ECO:0000269|PubMed:15548660, ECO:0000269|PubMed:16135813}.

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
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27176_187148329Calcium binding3%3B possibly ancestral
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27213_224148329Calcium binding4
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27254_265148329Calcium binding5
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27290_301148329Calcium binding6
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27163_198148329DomainEF-hand 3
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27200_235148329DomainEF-hand 4
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27241_276148329DomainEF-hand 5
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27277_312148329DomainEF-hand 6
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27325_328148329MotifPrevents secretion from ER

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNOSIPchr19:50063191chr19:50040290ENST00000391853-41078_10158302MotifNote=Nuclear localization signal
HgeneNOSIPchr19:50063191chr19:50040290ENST00000596358-3978_10158302MotifNote=Nuclear localization signal
HgeneNOSIPchr19:50063191chr19:50040290ENST00000391853-41055_7558302RegionNote=U-box-like
HgeneNOSIPchr19:50063191chr19:50040290ENST00000596358-3955_7558302RegionNote=U-box-like
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27126_137148329Calcium binding2
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+2790_101148329Calcium binding1%3B possibly ancestral
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+27113_148148329DomainEF-hand 2
TgeneRCN3chr19:50063191chr19:50040290ENST00000270645+2775_112148329DomainEF-hand 1


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FusionGeneSequence for NOSIP_RCN3


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 NOSIP_RCN3


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
NOSIPEPOR, CUL3, KPNA1, NOS3, DDX42, HECW2, WWOX, POLL, SLC25A21, FAM212B, TNNC2, NEU2, HMCES, ATR, DDX17, NF1, MCM2, OTUB1, PPP2CA, PPP2CB, PPP2R1A, PPP2R2A, UBE2D3, EGFR, CUL5, PTPN11, FOXA1, G3BP1RCN3PRUNE2, SUFU, HID1, KLHL42, MKNK1, STAT6, MBD3, PACRGL, XRCC3


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 NOSIP_RCN3


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 NOSIP_RCN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRCN3C0029408Degenerative polyarthritis1CTD_human