FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 30769

FusionGeneSummary for RBM47_NRL

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM47_NRL
Fusion gene ID: 30769
HgeneTgene
Gene symbol

RBM47

NRL

Gene ID

54502

4901

Gene nameRNA binding motif protein 47neural retina leucine zipper
SynonymsNET18D14S46E|NRL-MAF|RP27
Cytomap

4p14

14q11.2-q12

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein 47neural retina-specific leucine zipper proteinneural retinal-specific leucine zipper
Modification date2018051920180523
UniProtAcc

A0AV96

P54845

Ensembl transtripts involved in fusion geneENST00000319592, ENST00000381793, 
ENST00000381795, ENST00000295971, 
ENST00000514014, ENST00000515809, 
ENST00000397002, ENST00000561028, 
ENST00000396997, ENST00000560550, 
ENST00000396995, 
Fusion gene scores* DoF score9 X 9 X 7=5675 X 6 X 4=120
# samples 136
** MAII scorelog2(13/567*10)=-2.12483711191377
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBM47 [Title/Abstract] AND NRL [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
TgeneNRL

GO:0045944

positive regulation of transcription by RNA polymerase II

8552602


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
TCGARVKICHTCGA-KL-8339-01ARBM47chr4

40516533

-NRLchr14

24552084

-
TCGALDKICHTCGA-KL-8339-01ARBM47chr4

40517884

-NRLchr14

24553954

-
* 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-5UTRENST00000319592ENST00000397002RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000319592ENST00000561028RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000319592ENST00000396997RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000319592ENST00000560550RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000319592ENST00000396995RBM47chr4

40516533

-NRLchr14

24552084

-
5UTR-5UTRENST00000381793ENST00000397002RBM47chr4

40516533

-NRLchr14

24552084

-
5UTR-5UTRENST00000381793ENST00000561028RBM47chr4

40516533

-NRLchr14

24552084

-
5UTR-5UTRENST00000381793ENST00000396997RBM47chr4

40516533

-NRLchr14

24552084

-
5UTR-intronENST00000381793ENST00000560550RBM47chr4

40516533

-NRLchr14

24552084

-
5UTR-intronENST00000381793ENST00000396995RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000381795ENST00000397002RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000381795ENST00000561028RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000381795ENST00000396997RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000381795ENST00000560550RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000381795ENST00000396995RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000295971ENST00000397002RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000295971ENST00000561028RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000295971ENST00000396997RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000295971ENST00000560550RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000295971ENST00000396995RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000514014ENST00000397002RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000514014ENST00000561028RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000514014ENST00000396997RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000514014ENST00000560550RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000514014ENST00000396995RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000515809ENST00000397002RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000515809ENST00000561028RBM47chr4

40516533

-NRLchr14

24552084

-
intron-5UTRENST00000515809ENST00000396997RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000515809ENST00000560550RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000515809ENST00000396995RBM47chr4

40516533

-NRLchr14

24552084

-
intron-intronENST00000319592ENST00000397002RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000319592ENST00000561028RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000319592ENST00000396997RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000319592ENST00000560550RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000319592ENST00000396995RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000381793ENST00000397002RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000381793ENST00000561028RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000381793ENST00000396997RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000381793ENST00000560550RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000381793ENST00000396995RBM47chr4

40517884

-NRLchr14

24553954

-
5UTR-intronENST00000381795ENST00000397002RBM47chr4

40517884

-NRLchr14

24553954

-
5UTR-intronENST00000381795ENST00000561028RBM47chr4

40517884

-NRLchr14

24553954

-
5UTR-intronENST00000381795ENST00000396997RBM47chr4

40517884

-NRLchr14

24553954

-
5UTR-intronENST00000381795ENST00000560550RBM47chr4

40517884

-NRLchr14

24553954

-
5UTR-intronENST00000381795ENST00000396995RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000295971ENST00000397002RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000295971ENST00000561028RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000295971ENST00000396997RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000295971ENST00000560550RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000295971ENST00000396995RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000514014ENST00000397002RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000514014ENST00000561028RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000514014ENST00000396997RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000514014ENST00000560550RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000514014ENST00000396995RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000515809ENST00000397002RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000515809ENST00000561028RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000515809ENST00000396997RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000515809ENST00000560550RBM47chr4

40517884

-NRLchr14

24553954

-
intron-intronENST00000515809ENST00000396995RBM47chr4

40517884

-NRLchr14

24553954

-

Top

FusionProtFeatures for RBM47_NRL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RBM47

A0AV96

NRL

P54845

Acts as a transcriptional activator which regulates theexpression of several rod-specific genes, including RHO and PDE6B(PubMed:21981118). Functions also as a transcriptionalcoactivator, stimulating transcription mediated by thetranscription factor CRX and NR2E3 (PubMed:17335001). Binds in asequence-specific manner to the rhodopsin promoter(PubMed:17335001). {ECO:0000269|PubMed:17335001,ECO:0000269|PubMed:21981118}.

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


Top

FusionGeneSequence for RBM47_NRL


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).

Top

FusionGenePPI for RBM47_NRL


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
RBM47ELAVL1, C1orf94, HSFY1, RNF2, ATM, TRIM25NRLFIZ1, EDF1, OPTN, NR2E3, CRX


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


Top

RelatedDrugs for RBM47_NRL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for RBM47_NRL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRBM47C3495559Juvenile arthritis1CTD_human
TgeneNRLC0028077Night Blindness2CTD_human;HPO
TgeneNRLC0035334Retinitis Pigmentosa2CTD_human;HPO;ORPHANET
TgeneNRLC1834329RETINITIS PIGMENTOSA 272UNIPROT
TgeneNRLC0035304Retinal Degeneration1CTD_human