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: 31731

FusionGeneSummary for RP9_AFF3

check button Fusion gene summary
Fusion gene informationFusion gene name: RP9_AFF3
Fusion gene ID: 31731
HgeneTgene
Gene symbol

RP9

AFF3

Gene ID

6100

3899

Gene nameRP9, pre-mRNA splicing factorAF4/FMR2 family member 3
SynonymsPAP-1|PAP1LAF4|MLLT2-like
Cytomap

7p14.3

2q11.2

Type of geneprotein-codingprotein-coding
Descriptionretinitis pigmentosa 9 proteinPim-1 kinase associated proteinpim-1-associated proteinretinitis pigmentosa 9 (autosomal dominant)AF4/FMR2 family member 3MLLT2-related proteinlymphoid nuclear protein 4lymphoid nuclear protein related to AF4protein LAF-4
Modification date2018051920180523
UniProtAcc

Q8TA86

P51826

Ensembl transtripts involved in fusion geneENST00000297157, ENST00000409236, 
ENST00000356421, ENST00000317233, 
ENST00000409579, ENST00000483600, 
Fusion gene scores* DoF score1 X 1 X 1=17 X 7 X 4=196
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RP9 [Title/Abstract] AND AFF3 [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
ChiTaRS3.1BQ774911RP9chr7

33134964

+AFF3chr2

100581859

-
* 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-intronENST00000297157ENST00000409236RP9chr7

33134964

+AFF3chr2

100581859

-
intron-intronENST00000297157ENST00000356421RP9chr7

33134964

+AFF3chr2

100581859

-
intron-intronENST00000297157ENST00000317233RP9chr7

33134964

+AFF3chr2

100581859

-
intron-intronENST00000297157ENST00000409579RP9chr7

33134964

+AFF3chr2

100581859

-
intron-intronENST00000297157ENST00000483600RP9chr7

33134964

+AFF3chr2

100581859

-

Top

FusionProtFeatures for RP9_AFF3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RP9

Q8TA86

AFF3

P51826

Is thought to be a target protein for the PIM1 kinase.May play some roles in B-cell proliferation in association withPIM1 (By similarity). {ECO:0000250}.

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 RP9_AFF3


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 RP9_AFF3


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


Top

RelatedDrugs for RP9_AFF3


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 RP9_AFF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRP9C1867300RETINITIS PIGMENTOSA 91CTD_human;UNIPROT
TgeneAFF3C0003873Rheumatoid Arthritis2CTD_human
TgeneAFF3C0236969Substance-Related Disorders1CTD_human