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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: 11437

FusionGeneSummary for ELL_FKBP8

check button Fusion gene summary
Fusion gene informationFusion gene name: ELL_FKBP8
Fusion gene ID: 11437
HgeneTgene
Gene symbol

ELL

FKBP8

Gene ID

8178

23770

Gene nameelongation factor for RNA polymerase IIFK506 binding protein 8
SynonymsC19orf17|ELL1|MEN|PPP1R68FKBP38|FKBPr38
Cytomap

19p13.11

19p13.11

Type of geneprotein-codingprotein-coding
DescriptionRNA polymerase II elongation factor ELLELL gene (11-19 lysine-rich leukemia gene)eleven-nineteen lysine-rich leukemia proteinelongation factor RNA polymerase IIprotein phosphatase 1, regulatory subunit 68peptidyl-prolyl cis-trans isomerase FKBP838 kDa FK506-binding protein38 kDa FKBPFK506 binding protein 8, 38kDaFKBP-38FKBP-8PPIase FKBP8hFKBP38rotamase
Modification date2018051920180522
UniProtAcc

P55199

Q14318

Ensembl transtripts involved in fusion geneENST00000262809, ENST00000596124, 
ENST00000597960, ENST00000610101, 
ENST00000596558, ENST00000222308, 
ENST00000608443, ENST00000453489, 
Fusion gene scores* DoF score14 X 8 X 11=123211 X 11 X 5=605
# samples 1613
** MAII scorelog2(16/1232*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/605*10)=-2.2184235191335
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELL [Title/Abstract] AND FKBP8 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
* 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
HgeneELL

GO:0010923

negative regulation of phosphatase activity

19389623


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
TCGARVLIHCTCGA-DD-AAE2-01AELLchr19

18632731

-FKBP8chr19

18652805

-
TCGARVTHYMTCGA-ZB-A96I-01AELLchr19

18583645

-FKBP8chr19

18644157

-
* 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-5UTRENST00000262809ENST00000597960ELLchr19

18632731

-FKBP8chr19

18652805

-
5CDS-5UTRENST00000262809ENST00000610101ELLchr19

18632731

-FKBP8chr19

18652805

-
5CDS-5UTRENST00000262809ENST00000596558ELLchr19

18632731

-FKBP8chr19

18652805

-
5CDS-5UTRENST00000262809ENST00000222308ELLchr19

18632731

-FKBP8chr19

18652805

-
5CDS-5UTRENST00000262809ENST00000608443ELLchr19

18632731

-FKBP8chr19

18652805

-
5CDS-5UTRENST00000262809ENST00000453489ELLchr19

18632731

-FKBP8chr19

18652805

-
intron-5UTRENST00000596124ENST00000597960ELLchr19

18632731

-FKBP8chr19

18652805

-
intron-5UTRENST00000596124ENST00000610101ELLchr19

18632731

-FKBP8chr19

18652805

-
intron-5UTRENST00000596124ENST00000596558ELLchr19

18632731

-FKBP8chr19

18652805

-
intron-5UTRENST00000596124ENST00000222308ELLchr19

18632731

-FKBP8chr19

18652805

-
intron-5UTRENST00000596124ENST00000608443ELLchr19

18632731

-FKBP8chr19

18652805

-
intron-5UTRENST00000596124ENST00000453489ELLchr19

18632731

-FKBP8chr19

18652805

-
In-frameENST00000262809ENST00000597960ELLchr19

18583645

-FKBP8chr19

18644157

-
In-frameENST00000262809ENST00000610101ELLchr19

18583645

-FKBP8chr19

18644157

-
In-frameENST00000262809ENST00000596558ELLchr19

18583645

-FKBP8chr19

18644157

-
In-frameENST00000262809ENST00000222308ELLchr19

18583645

-FKBP8chr19

18644157

-
In-frameENST00000262809ENST00000608443ELLchr19

18583645

-FKBP8chr19

18644157

-
In-frameENST00000262809ENST00000453489ELLchr19

18583645

-FKBP8chr19

18644157

-
5UTR-3CDSENST00000596124ENST00000597960ELLchr19

18583645

-FKBP8chr19

18644157

-
5UTR-3CDSENST00000596124ENST00000610101ELLchr19

18583645

-FKBP8chr19

18644157

-
5UTR-3CDSENST00000596124ENST00000596558ELLchr19

18583645

-FKBP8chr19

18644157

-
5UTR-3CDSENST00000596124ENST00000222308ELLchr19

18583645

-FKBP8chr19

18644157

-
5UTR-3CDSENST00000596124ENST00000608443ELLchr19

18583645

-FKBP8chr19

18644157

-
5UTR-3CDSENST00000596124ENST00000453489ELLchr19

18583645

-FKBP8chr19

18644157

-

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FusionProtFeatures for ELL_FKBP8


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

P55199

FKBP8

Q14318

Elongation factor component of the super elongationcomplex (SEC), a complex required to increase the catalytic rateof RNA polymerase II transcription by suppressing transientpausing by the polymerase at multiple sites along the DNA.Elongation factor component of the little elongation complex(LEC), a complex required to regulate small nuclear RNA (snRNA)gene transcription by RNA polymerase II and III (PubMed:22195968,PubMed:23932780). Specifically required for stimulating theelongation step of RNA polymerase II- and III-dependent snRNA genetranscription (PubMed:23932780). ELL also plays an early rolebefore its assembly into in the SEC complex by stabilizing RNApolymerase II recruitment/initiation and entry into the pausesite. Required to stabilize the pre-initiation complex and earlyelongation. {ECO:0000269|PubMed:16006523,ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948,ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:22252557,ECO:0000269|PubMed:23932780, ECO:0000269|PubMed:8596958}. Constitutively inactive PPiase, which becomes activewhen bound to calmodulin and calcium. Seems to act as a chaperonefor BCL2, targets it to the mitochondria and modulates itsphosphorylation state. The BCL2/FKBP8/calmodulin/calcium complexprobably interferes with the binding of BCL2 to its targets. Theactive form of FKBP8 may therefore play a role in the regulationof apoptosis. {ECO:0000269|PubMed:12510191,ECO:0000269|PubMed:15757646, ECO:0000269|PubMed:16176796}.

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
TgeneFKBP8chr19:18583645chr19:18644157ENST00000222308-59390_410314413TransmembraneHelical
TgeneFKBP8chr19:18583645chr19:18644157ENST00000596558-59390_410314413TransmembraneHelical
TgeneFKBP8chr19:18583645chr19:18644157ENST00000597960-59390_410315414TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneELLchr19:18583645chr19:18644157ENST00000262809-212445_45961622MotifNuclear localization signal
TgeneFKBP8chr19:18583645chr19:18644157ENST00000222308-5922_92314413Compositional biasNote=Glu-rich
TgeneFKBP8chr19:18583645chr19:18644157ENST00000596558-5922_92314413Compositional biasNote=Glu-rich
TgeneFKBP8chr19:18583645chr19:18644157ENST00000597960-5922_92315414Compositional biasNote=Glu-rich
TgeneFKBP8chr19:18583645chr19:18644157ENST00000222308-59120_204314413DomainPPIase FKBP-type
TgeneFKBP8chr19:18583645chr19:18644157ENST00000596558-59120_204314413DomainPPIase FKBP-type
TgeneFKBP8chr19:18583645chr19:18644157ENST00000597960-59120_204315414DomainPPIase FKBP-type
TgeneFKBP8chr19:18583645chr19:18644157ENST00000222308-59221_254314413RepeatNote=TPR 1
TgeneFKBP8chr19:18583645chr19:18644157ENST00000222308-59272_305314413RepeatNote=TPR 2
TgeneFKBP8chr19:18583645chr19:18644157ENST00000222308-59306_339314413RepeatNote=TPR 3
TgeneFKBP8chr19:18583645chr19:18644157ENST00000596558-59221_254314413RepeatNote=TPR 1
TgeneFKBP8chr19:18583645chr19:18644157ENST00000596558-59272_305314413RepeatNote=TPR 2
TgeneFKBP8chr19:18583645chr19:18644157ENST00000596558-59306_339314413RepeatNote=TPR 3
TgeneFKBP8chr19:18583645chr19:18644157ENST00000597960-59221_254315414RepeatNote=TPR 1
TgeneFKBP8chr19:18583645chr19:18644157ENST00000597960-59272_305315414RepeatNote=TPR 2
TgeneFKBP8chr19:18583645chr19:18644157ENST00000597960-59306_339315414RepeatNote=TPR 3


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FusionGeneSequence for ELL_FKBP8


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 ELL_FKBP8


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
ELLSIRT2, ZHX1, TP53, EAF1, EAF2, SNF8, USPL1, MLLT3, MLLT1, KMT2A, TFPT, UBC, MED26, ICE2, ICE1, AFF4, CDK9, MCM2, SNRPA1, ELL3, DENND2D, OFD1, DYNLL1, CTR9, HUWE1, NCBP2, FGFR1OP2, SIKE1, VWA9, ASPM, CAMKV, PIP4K2A, TRIM25FKBP8BCL2, BCL2L1, USP19, BRE, EGFR, HSP90AA1, CALM1, PSMC1, PSMC2, PSMC3, PSMC4, PSMC5, PSMC6, PSMD1, PSMD2, PSMD3, PSMD4, PSMD6, PSMD7, PSMD11, PSMD12, PSMD13, PSMD14, PSMA1, PSMA2, PSMA3, PSMA4, PSMA5, PSMA6, PSMA7, PSMB1, PSMB2, PSMB3, PSMB5, PSMB7, ADRM1, PTPRK, UBC, TERF1, EGLN1, CUL3, VHL, ATP13A2, SURF1, MRPL11, YME1L1, UQCRC1, UQCRC2, MRPL15, SSR1, UQCRFS1, PGRMC1, DHODH, NDUFB10, TOMM22, ABCC1, NNT, KCNH2, FKBP8, CAMK2A, CLN3, ADRB2, BNIPL, ARHGEF5, CDK20, PDCL, SUGT1, PTGES3, CACYBP, HSPBP1, RHEB, MTOR, MLST8, RPTOR, RICTOR, CCDC8, RPS6KB2, ABCB7, TCTN2, TCTN3, EVC2, TMEM216, MLH1, XRCC3, VAPA, ATP6AP2, COQ9, TMEM258, CLCN1, CUL4A, CUL4B, MTMR11, PTPMT1, ANKMY2


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 ELL_FKBP8


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 ELL_FKBP8


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