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: 29665

FusionGeneSummary for PUM1_RAP1A

check button Fusion gene summary
Fusion gene informationFusion gene name: PUM1_RAP1A
Fusion gene ID: 29665
HgeneTgene
Gene symbol

PUM1

RAP1A

Gene ID

9698

5906

Gene namepumilio RNA binding family member 1RAP1A, member of RAS oncogene family
SynonymsHSPUM|PUMH|PUMH1|PUML1|SCA47C21KG|G-22K|KREV-1|KREV1|RAP1|SMGP21
Cytomap

1p35.2

1p13.2

Type of geneprotein-codingprotein-coding
Descriptionpumilio homolog 1pumilio-1ras-related protein Rap-1AGTP-binding protein smg p21ARas-related protein Krev-1
Modification date2018051920180522
UniProtAcc

Q14671

P62834

Ensembl transtripts involved in fusion geneENST00000424085, ENST00000257075, 
ENST00000373747, ENST00000426105, 
ENST00000440538, ENST00000373741, 
ENST00000423018, ENST00000373742, 
ENST00000490546, 		ENST00000356415, 
ENST00000436150, ENST00000369709, 
ENST00000545460, ENST00000494982, 
Fusion gene scores* DoF score26 X 16 X 15=62405 X 6 X 3=90
# samples 347
** MAII scorelog2(34/6240*10)=-4.19793937761191
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/90*10)=-0.362570079384708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PUM1 [Title/Abstract] AND RAP1A [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
HgenePUM1

GO:0010608

posttranscriptional regulation of gene expression

25100735

HgenePUM1

GO:0043488

regulation of mRNA stability

26724866

HgenePUM1

GO:0051726

regulation of cell cycle

20818387

HgenePUM1

GO:0051983

regulation of chromosome segregation

26724866

HgenePUM1

GO:1900246

positive regulation of RIG-I signaling pathway

25340845

HgenePUM1

GO:2000637

positive regulation of gene silencing by miRNA

20818387|22345517

TgeneRAP1A

GO:0015031

protein transport

17916086

TgeneRAP1A

GO:0071320

cellular response to cAMP

21840392


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
TCGARVCESCTCGA-BI-A0VR-01APUM1chr1

31501643

-RAP1Achr1

112170092

+
* 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
5CDS-intronENST00000424085ENST00000356415PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-5UTRENST00000424085ENST00000436150PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000424085ENST00000369709PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000424085ENST00000545460PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000424085ENST00000494982PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000257075ENST00000356415PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-5UTRENST00000257075ENST00000436150PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000257075ENST00000369709PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000257075ENST00000545460PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000257075ENST00000494982PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373747ENST00000356415PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-5UTRENST00000373747ENST00000436150PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373747ENST00000369709PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373747ENST00000545460PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373747ENST00000494982PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000426105ENST00000356415PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-5UTRENST00000426105ENST00000436150PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000426105ENST00000369709PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000426105ENST00000545460PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000426105ENST00000494982PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000440538ENST00000356415PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-5UTRENST00000440538ENST00000436150PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000440538ENST00000369709PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000440538ENST00000545460PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000440538ENST00000494982PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373741ENST00000356415PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-5UTRENST00000373741ENST00000436150PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373741ENST00000369709PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373741ENST00000545460PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373741ENST00000494982PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000423018ENST00000356415PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-5UTRENST00000423018ENST00000436150PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000423018ENST00000369709PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000423018ENST00000545460PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000423018ENST00000494982PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373742ENST00000356415PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-5UTRENST00000373742ENST00000436150PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373742ENST00000369709PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373742ENST00000545460PUM1chr1

31501643

-RAP1Achr1

112170092

+
5CDS-intronENST00000373742ENST00000494982PUM1chr1

31501643

-RAP1Achr1

112170092

+
intron-intronENST00000490546ENST00000356415PUM1chr1

31501643

-RAP1Achr1

112170092

+
intron-5UTRENST00000490546ENST00000436150PUM1chr1

31501643

-RAP1Achr1

112170092

+
intron-intronENST00000490546ENST00000369709PUM1chr1

31501643

-RAP1Achr1

112170092

+
intron-intronENST00000490546ENST00000545460PUM1chr1

31501643

-RAP1Achr1

112170092

+
intron-intronENST00000490546ENST00000494982PUM1chr1

31501643

-RAP1Achr1

112170092

+

Top

FusionProtFeatures for PUM1_RAP1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PUM1

Q14671

RAP1A

P62834

Sequence-specific RNA-binding protein that acts as apost-transcriptional repressor by binding the 3'-UTR of mRNAtargets. Binds to an RNA consensus sequence, the Pumilio ResponseElement (PRE), 5'-UGUANAUA-3', that is related to the NanosResponse Element (NRE) (PubMed:21572425, PubMed:18328718,PubMed:21653694, PubMed:21397187). Mediates post-transcriptionalrepression of transcripts via different mechanisms: acts viadirect recruitment of the CCR4-POP2-NOT deadenylase leading totranslational inhibition and mRNA degradation (PubMed:22955276).Also mediates deadenylation-independent repression by promotingaccessibility of miRNAs (PubMed:18776931, PubMed:20818387,PubMed:20860814, PubMed:22345517). Following growth factorstimulation, phosphorylated and binds to the 3'-UTR of CDKN1B/p27mRNA, inducing a local conformational change that exposes miRNA-binding sites, promoting association of miR-221 and miR-222,efficient suppression of CDKN1B/p27 expression, and rapid entry tothe cell cycle (PubMed:20818387). Acts as a post-transcriptionalrepressor of E2F3 mRNAs by binding to its 3'-UTR and facilitatingmiRNA regulation (PubMed:22345517). Represses a program of genesnecessary to maintain genomic stability such as key mitotic, DNArepair and DNA replication factors. Its ability to repress thosetarget mRNAs is regulated by the lncRNA NORAD (non-coding RNAactivated by DNA damage) which, due to its high abundance andmultitude of PUMILIO binding sites, is able to sequester asignificant fraction of PUM1 and PUM2 in the cytoplasm(PubMed:26724866). Involved in neuronal functions by regulatingATXN1 mRNA levels: acts by binding to the 3'-UTR of ATXN1transcripts, leading to their down-regulation independently of themiRNA machinery (PubMed:25768905). Plays a role in cytoplasmicsensing of viral infection (PubMed:25340845). In testis, acts as apost-transcriptional regulator of spermatogenesis by binding tothe 3'-UTR of mRNAs coding for regulators of p53/TP53. Involved inembryonic stem cell renewal by facilitating the exit from theground state: acts by targeting mRNAs coding for naivepluripotency transcription factors and accelerates their down-regulation at the onset of differentiation (By similarity). Bindsspecifically to miRNA MIR199A precursor, with PUM2, regulatesmiRNA MIR199A expression at a postranscriptional level(PubMed:28431233). {ECO:0000250|UniProtKB:Q80U78,ECO:0000269|PubMed:18328718, ECO:0000269|PubMed:18776931,ECO:0000269|PubMed:20818387, ECO:0000269|PubMed:20860814,ECO:0000269|PubMed:21397187, ECO:0000269|PubMed:21572425,ECO:0000269|PubMed:21653694, ECO:0000269|PubMed:22345517,ECO:0000269|PubMed:22955276, ECO:0000269|PubMed:25340845,ECO:0000269|PubMed:25768905, ECO:0000269|PubMed:26724866,ECO:0000269|PubMed:28431233}. Induces morphological reversion of a cell linetransformed by a Ras oncogene. Counteracts the mitogenic functionof Ras, at least partly because it can interact with Ras GAPs andRAF in a competitive manner. Together with ITGB1BP1, regulatesKRIT1 localization to microtubules and membranes. Plays a role innerve growth factor (NGF)-induced neurite outgrowth. Plays a rolein the regulation of embryonic blood vessel formation. Involved inthe establishment of basal endothelial barrier function. May beinvolved in the regulation of the vascular endothelial growthfactor receptor KDR expression at endothelial cell-cell junctions.{ECO:0000269|PubMed:17916086, ECO:0000269|PubMed:21840392}.

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 PUM1_RAP1A


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 PUM1_RAP1A


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
PUM1ELAVL1, SIRT7, CAND1, ATXN1, LAGE3, CLNS1A, PAICS, ANXA5, HSPB1, VPS26A, SEPHS1, DSTN, SMAD1, ITGA4, EIF5, PRR12, FBXO6, SAV1, YWHAB, AURKB, CDKN1A, CCDC8, BMI1, EGFR, RBFOX2, FBXW11, NTRK1, KIAA0753, XPO1, MATR3, SEC16A, FOXG1, FOXI2, FOXQ1, RC3H1, EYA2, ELAVL2, TRIM11, CELF5, LITAF, CLASRP, TRIM25, G3BP1RAP1APDE6D, RAP1GDS1, KRIT1, RGL4, TSC2, GABARAPL2, ARHGEF1, RUNDC3A, MLLT4, RALGDS, RAPGEF3, RAPGEF4, RAPGEF5, MTOR, RAP1GAP, RHEB, RAF1, RGS14, BRAF, NTRK1, RAPGEF2, RAPGEF6, PPP2R1A, ELAVL1, RADIL, GNB1, CDC42, ILF3, DNAJC8, PON2, FEN1, HNRNPM, GNG12, CDK11B, RAB1A, DGKI, SIRT1, MTNR1A, GANAB, UNK, ARHGDIA, ECHS1, RAB5A, RAB5B, RAB5C, RAB7A, RAB8A, RAB8B, UQCRC2, BIN1, BMX, SMARCA2, TNFRSF10C, TCEB3, FADD, FAF1, FAS, HDAC1, HSPA4, IQGAP1, LIMA1, RASGRP4, DUSP19, DUSP22, DUSP9, KIFAP3, MRPL34, EXOC6, CPLX2, MGST3, TBRG4, DLST, SOD1, TRIM25, RAPGEF1


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 PUM1_RAP1A


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 PUM1_RAP1A


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