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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: 11443

FusionGeneSummary for ELL_MKNK2

check button Fusion gene summary
Fusion gene informationFusion gene name: ELL_MKNK2
Fusion gene ID: 11443
HgeneTgene
Gene symbol

ELL

MKNK2

Gene ID

8178

2872

Gene nameelongation factor for RNA polymerase IIMAP kinase interacting serine/threonine kinase 2
SynonymsC19orf17|ELL1|MEN|PPP1R68GPRK7|MNK2
Cytomap

19p13.11

19p13.3

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 68MAP kinase-interacting serine/threonine-protein kinase 2G protein-coupled receptor kinase 7MAP kinase signal-integrating kinase 2MAPK signal-integrating kinase 2
Modification date2018051920180523
UniProtAcc

P55199

Q9HBH9

Ensembl transtripts involved in fusion geneENST00000262809, ENST00000596124, 
ENST00000591142, ENST00000591601, 
ENST00000309340, ENST00000250896, 
ENST00000541165, ENST00000591588, 
ENST00000588014, 
Fusion gene scores* DoF score14 X 8 X 11=12324 X 4 X 2=32
# samples 164
** MAII scorelog2(16/1232*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ELL [Title/Abstract] AND MKNK2 [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
HgeneELL

GO:0010923

negative regulation of phosphatase activity

19389623

TgeneMKNK2

GO:0006468

protein phosphorylation

11463832

TgeneMKNK2

GO:0030097

hemopoiesis

21149447

TgeneMKNK2

GO:0035556

intracellular signal transduction

11463832

TgeneMKNK2

GO:0071243

cellular response to arsenic-containing substance

18299328


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
TCGARVESCATCGA-L5-A891-01AELLchr19

18569015

-MKNK2chr19

2046690

-
* 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-intronENST00000262809ENST00000591142ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000262809ENST00000591601ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000262809ENST00000309340ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000262809ENST00000250896ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-5UTRENST00000262809ENST00000541165ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000262809ENST00000591588ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000262809ENST00000588014ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000596124ENST00000591142ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000596124ENST00000591601ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000596124ENST00000309340ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000596124ENST00000250896ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-5UTRENST00000596124ENST00000541165ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000596124ENST00000591588ELLchr19

18569015

-MKNK2chr19

2046690

-
5CDS-intronENST00000596124ENST00000588014ELLchr19

18569015

-MKNK2chr19

2046690

-

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FusionProtFeatures for ELL_MKNK2


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

P55199

MKNK2

Q9HBH9

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}. Serine/threonine-protein kinase that phosphorylatesSFPQ/PSF, HNRNPA1 and EIF4E. May play a role in the response toenvironmental stress and cytokines. Appears to regulatetranslation by phosphorylating EIF4E, thus increasing the affinityof this protein for the 7-methylguanosine-containing mRNA cap.Required for mediating PP2A-inhibition-induced EIF4Ephosphorylation. Triggers EIF4E shuttling from cytoplasm tonucleus. Isoform 1 displays a high basal kinase activity, butisoform 2 exhibits a very low kinase activity. Acts as a mediatorof the suppressive effects of IFNgamma on hematopoiesis. Negativeregulator for signals that control generation of arsenic trioxideAs(2)O(3)-dependent apoptosis and anti-leukemic responses.Involved in anti-apoptotic signaling in response to serumwithdrawal. {ECO:0000269|PubMed:11154262,ECO:0000269|PubMed:11463832, ECO:0000269|PubMed:12897141,ECO:0000269|PubMed:16111636, ECO:0000269|PubMed:17965020,ECO:0000269|PubMed:18299328, ECO:0000269|PubMed:20823271,ECO:0000269|PubMed:20927323, ECO:0000269|PubMed:21149447}.

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 ELL_MKNK2


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_MKNK2


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, TRIM25MKNK2EIF4G1, MAPK1, ESR2, MAPK14, RPL7A, ELAVL1, RBX1, VHL, CUL2, VBP1, MAPK8, CSTF2, MIF, RBM4, VCL, BAG6, SYMPK, KHSRP, NOLC1, WDR46, USP15, TRAP1, CELF1, NUDT21, WWP2, EXOC3, RAB11FIP2, PLXNA3, HAUS7, ADCK1, RBM26, BHLHE41, ZCCHC6, ZMYM1, CD99L2, MRRF, TICAM1, RICTOR, TRIM25


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_MKNK2


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_MKNK2


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