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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: 27010

FusionGeneSummary for PHLDB2_RBM47

check button Fusion gene summary
Fusion gene informationFusion gene name: PHLDB2_RBM47
Fusion gene ID: 27010
HgeneTgene
Gene symbol

PHLDB2

RBM47

Gene ID

90102

54502

Gene namepleckstrin homology like domain family B member 2RNA binding motif protein 47
SynonymsLL5b|LL5betaNET18
Cytomap

3q13.2

4p14

Type of geneprotein-codingprotein-coding
Descriptionpleckstrin homology-like domain family B member 2LL5 betaprotein LL5-betaRNA-binding protein 47
Modification date2018052220180519
UniProtAcc

Q86SQ0

A0AV96

Ensembl transtripts involved in fusion geneENST00000393923, ENST00000412622, 
ENST00000431670, ENST00000393925, 
ENST00000481953, ENST00000495180, 
ENST00000478922, ENST00000477695, 
ENST00000470699, 
ENST00000319592, 
ENST00000381793, ENST00000381795, 
ENST00000295971, ENST00000514014, 
ENST00000515809, 
Fusion gene scores* DoF score8 X 7 X 6=3366 X 7 X 3=126
# samples 97
** MAII scorelog2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PHLDB2 [Title/Abstract] AND RBM47 [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
ChiTaRS3.1BE004180PHLDB2chr3

111680418

-RBM47chr4

40540279

-
* 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-intronENST00000393923ENST00000319592PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393923ENST00000381793PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393923ENST00000381795PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393923ENST00000295971PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393923ENST00000514014PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393923ENST00000515809PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000412622ENST00000319592PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000412622ENST00000381793PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000412622ENST00000381795PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000412622ENST00000295971PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000412622ENST00000514014PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000412622ENST00000515809PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000431670ENST00000319592PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000431670ENST00000381793PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000431670ENST00000381795PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000431670ENST00000295971PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000431670ENST00000514014PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000431670ENST00000515809PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393925ENST00000319592PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393925ENST00000381793PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393925ENST00000381795PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393925ENST00000295971PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393925ENST00000514014PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000393925ENST00000515809PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000481953ENST00000319592PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000481953ENST00000381793PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000481953ENST00000381795PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000481953ENST00000295971PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000481953ENST00000514014PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000481953ENST00000515809PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000495180ENST00000319592PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000495180ENST00000381793PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000495180ENST00000381795PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000495180ENST00000295971PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000495180ENST00000514014PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000495180ENST00000515809PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000478922ENST00000319592PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000478922ENST00000381793PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000478922ENST00000381795PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000478922ENST00000295971PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000478922ENST00000514014PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000478922ENST00000515809PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000477695ENST00000319592PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000477695ENST00000381793PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000477695ENST00000381795PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000477695ENST00000295971PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000477695ENST00000514014PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000477695ENST00000515809PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000470699ENST00000319592PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000470699ENST00000381793PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000470699ENST00000381795PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000470699ENST00000295971PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000470699ENST00000514014PHLDB2chr3

111680418

-RBM47chr4

40540279

-
intron-intronENST00000470699ENST00000515809PHLDB2chr3

111680418

-RBM47chr4

40540279

-

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FusionProtFeatures for PHLDB2_RBM47


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHLDB2

Q86SQ0

RBM47

A0AV96

Seems to be involved in the assembly of the postsynapticapparatus. May play a role in acetyl-choline receptor (AChR)aggregation in the postsynaptic membrane (By similarity).{ECO:0000250, ECO:0000269|PubMed:12376540}.

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 PHLDB2_RBM47


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 PHLDB2_RBM47


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 PHLDB2_RBM47


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 PHLDB2_RBM47


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRBM47C3495559Juvenile arthritis1CTD_human