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: 11430

FusionGeneSummary for ELL3_PAWR

check button Fusion gene summary
Fusion gene informationFusion gene name: ELL3_PAWR
Fusion gene ID: 11430
HgeneTgene
Gene symbol

ELL3

PAWR

Gene ID

80237

5074

Gene nameelongation factor for RNA polymerase II 3pro-apoptotic WT1 regulator
Synonyms-PAR4|Par-4
Cytomap

15q15.3

12q21.2

Type of geneprotein-codingprotein-coding
DescriptionRNA polymerase II elongation factor ELL3elongation factor RNA polymerase II-like 3PRKC apoptosis WT1 regulator proteinPRKC, apoptosis, WT1, regulatorWT1-interacting proteinprostate apoptosis response protein 4prostate apoptosis response protein PAR-4prostate apoptosis response-4transcriptional repressor PAR4
Modification date2018051920180523
UniProtAcc

Q9HB65

Q96IZ0

Ensembl transtripts involved in fusion geneENST00000319359, ENST00000497465, 
ENST00000328827, ENST00000547571, 
Fusion gene scores* DoF score10 X 11 X 1=1108 X 6 X 5=240
# samples 118
** MAII scorelog2(11/110*10)=0log2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELL3 [Title/Abstract] AND PAWR [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
HgeneELL3

GO:0006354

DNA-templated transcription, elongation

10882741

HgeneELL3

GO:0006368

transcription elongation from RNA polymerase II promoter

10882741

HgeneELL3

GO:0032786

positive regulation of DNA-templated transcription, elongation

10882741

HgeneELL3

GO:0045944

positive regulation of transcription by RNA polymerase II

10882741


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
ChiTaRS3.1BU852279ELL3chr15

44085945

+PAWRchr12

80083616

-
* 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-3CDSENST00000319359ENST00000328827ELL3chr15

44085945

+PAWRchr12

80083616

-
intron-5UTRENST00000319359ENST00000547571ELL3chr15

44085945

+PAWRchr12

80083616

-
intron-3CDSENST00000497465ENST00000328827ELL3chr15

44085945

+PAWRchr12

80083616

-
intron-5UTRENST00000497465ENST00000547571ELL3chr15

44085945

+PAWRchr12

80083616

-

Top

FusionProtFeatures for ELL3_PAWR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ELL3

Q9HB65

PAWR

Q96IZ0

Enhancer-binding elongation factor that specificallybinds enhancers in embryonic stem cells (ES cells), marks them,and is required for their future activation during stem cellspecification. Does not only bind to enhancer regions of activegenes, but also marks the enhancers that are in a poised orinactive state in ES cells and is required for establishing properRNA polymerase II occupancy at developmentally regulated genes ina cohesin-dependent manner. Probably required for primingdevelopmentally regulated genes for later recruitment of the superelongation complex (SEC), for transcriptional activation duringdifferentiation. Required for recruitment of P-TEFb within SECduring differentiation. Probably preloaded on germ cell chromatin,suggesting that it may prime gene activation by marking enhancersas early as in the germ cells. Promoting epithelial-mesenchymaltransition (EMT) (By similarity). Elongation factor component ofthe super elongation complex (SEC), a complex required to increasethe catalytic rate of RNA polymerase II transcription bysuppressing transient pausing by the polymerase at multiple sitesalong the DNA. Component of the little elongation complex (LEC), acomplex required to regulate small nuclear RNA (snRNA) genetranscription by RNA polymerase II and III (PubMed:22195968).{ECO:0000250, ECO:0000269|PubMed:10882741,ECO:0000269|PubMed:22195968}. Pro-apoptopic protein capable of selectively inducingapoptosis in cancer cells, sensitizing the cells to diverseapoptotic stimuli and causing regression of tumors in animalmodels. Induces apoptosis in certain cancer cells by activation ofthe Fas prodeath pathway and coparallel inhibition of NF-kappa-Btranscriptional activity. Inhibits the transcriptional activationand augments the transcriptional repression mediated by WT1. Down-regulates the anti-apoptotic protein BCL2 via its interaction withWT1. Seems also to be a transcriptional repressor by itself. Maybe directly involved in regulating the amyloid precursor protein(APP) cleavage activity of BACE1. {ECO:0000269|PubMed:11585763}.

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 ELL3_PAWR


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 ELL3_PAWR


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 ELL3_PAWR


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 ELL3_PAWR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePAWRC0036341Schizophrenia2PSYGENET
TgenePAWRC0041696Unipolar Depression2PSYGENET
TgenePAWRC1269683Major Depressive Disorder2PSYGENET
TgenePAWRC0001418Adenocarcinoma1CTD_human
TgenePAWRC0005586Bipolar Disorder1PSYGENET
TgenePAWRC0014170Endometrial Neoplasms1CTD_human
TgenePAWRC0033578Prostatic Neoplasms1CTD_human
TgenePAWRC0033975Psychotic Disorders1PSYGENET
TgenePAWRC0525045Mood Disorders1PSYGENET
TgenePAWRC0600427Cocaine Dependence1PSYGENET