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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: 29666

FusionGeneSummary for PUM1_RNF207

check button Fusion gene summary
Fusion gene informationFusion gene name: PUM1_RNF207
Fusion gene ID: 29666
HgeneTgene
Gene symbol

PUM1

RNF207

Gene ID

9698

388591

Gene namepumilio RNA binding family member 1ring finger protein 207
SynonymsHSPUM|PUMH|PUMH1|PUML1|SCA47C1orf188
Cytomap

1p35.2

1p36.31

Type of geneprotein-codingprotein-coding
Descriptionpumilio homolog 1pumilio-1RING finger protein 207
Modification date2018051920180519
UniProtAcc

Q14671

Q6ZRF8

Ensembl transtripts involved in fusion geneENST00000424085, ENST00000257075, 
ENST00000373747, ENST00000426105, 
ENST00000440538, ENST00000373741, 
ENST00000423018, ENST00000373742, 
ENST00000490546, 		ENST00000377948, 
ENST00000377939, ENST00000483336, 
Fusion gene scores* DoF score26 X 16 X 15=62402 X 2 X 2=8
# samples 342
** MAII scorelog2(34/6240*10)=-4.19793937761191
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: PUM1 [Title/Abstract] AND RNF207 [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


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
TCGARVCOADTCGA-D5-5537-01APUM1chr1

31452909

-RNF207chr1

6266236

+
* 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-5UTRENST00000424085ENST00000377948PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000424085ENST00000377939PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-intronENST00000424085ENST00000483336PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000257075ENST00000377948PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000257075ENST00000377939PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-intronENST00000257075ENST00000483336PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000373747ENST00000377948PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000373747ENST00000377939PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-intronENST00000373747ENST00000483336PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000426105ENST00000377948PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000426105ENST00000377939PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-intronENST00000426105ENST00000483336PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000440538ENST00000377948PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000440538ENST00000377939PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-intronENST00000440538ENST00000483336PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000373741ENST00000377948PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000373741ENST00000377939PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-intronENST00000373741ENST00000483336PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000423018ENST00000377948PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000423018ENST00000377939PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-intronENST00000423018ENST00000483336PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000373742ENST00000377948PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-5UTRENST00000373742ENST00000377939PUM1chr1

31452909

-RNF207chr1

6266236

+
5CDS-intronENST00000373742ENST00000483336PUM1chr1

31452909

-RNF207chr1

6266236

+
5UTR-5UTRENST00000490546ENST00000377948PUM1chr1

31452909

-RNF207chr1

6266236

+
5UTR-5UTRENST00000490546ENST00000377939PUM1chr1

31452909

-RNF207chr1

6266236

+
5UTR-intronENST00000490546ENST00000483336PUM1chr1

31452909

-RNF207chr1

6266236

+

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FusionProtFeatures for PUM1_RNF207


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

Q14671

RNF207

Q6ZRF8

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}. Plays a role in cardiac repolarization possibly bystabilizing membrane expression of the potassium channelKCNH2/HERG, or by assisting its synthesis, folding or export fromthe endoplasmic reticulum, in a heat shock protein-dependentmanner. {ECO:0000269|PubMed:25281747}.

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 PUM1_RNF207


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 PUM1_RNF207


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, G3BP1RNF207KCNH2, DNAJA1, HSPA8, HSPA1A


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 PUM1_RNF207


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 PUM1_RNF207


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRNF207C0027626Neoplasm Invasiveness1CTD_human