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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: 11444

FusionGeneSummary for ELL_MVB12A

check button Fusion gene summary
Fusion gene informationFusion gene name: ELL_MVB12A
Fusion gene ID: 11444
HgeneTgene
Gene symbol

ELL

MVB12A

Gene ID

8178

93343

Gene nameelongation factor for RNA polymerase IImultivesicular body subunit 12A
SynonymsC19orf17|ELL1|MEN|PPP1R68CFBP|FAM125A
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 68multivesicular body subunit 12ACIN85/CD2AP family binding proteinESCRT-I complex subunit MVB12Afamily with sequence similarity 125, member A
Modification date2018051920180522
UniProtAcc

P55199

Q96EY5

Ensembl transtripts involved in fusion geneENST00000262809, ENST00000596124, 
ENST00000529490, ENST00000317040, 
ENST00000392702, ENST00000529939, 
ENST00000528515, ENST00000543795, 
Fusion gene scores* DoF score14 X 8 X 11=12322 X 2 X 2=8
# samples 162
** MAII scorelog2(16/1232*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ELL [Title/Abstract] AND MVB12A [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


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
TCGALDLUADTCGA-49-4490-01AELLchr19

18632731

-MVB12Achr19

17516886

+
* 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-intronENST00000262809ENST00000529490ELLchr19

18632731

-MVB12Achr19

17516886

+
5CDS-intronENST00000262809ENST00000317040ELLchr19

18632731

-MVB12Achr19

17516886

+
5CDS-intronENST00000262809ENST00000392702ELLchr19

18632731

-MVB12Achr19

17516886

+
5CDS-intronENST00000262809ENST00000529939ELLchr19

18632731

-MVB12Achr19

17516886

+
5CDS-intronENST00000262809ENST00000528515ELLchr19

18632731

-MVB12Achr19

17516886

+
5CDS-intronENST00000262809ENST00000543795ELLchr19

18632731

-MVB12Achr19

17516886

+
intron-intronENST00000596124ENST00000529490ELLchr19

18632731

-MVB12Achr19

17516886

+
intron-intronENST00000596124ENST00000317040ELLchr19

18632731

-MVB12Achr19

17516886

+
intron-intronENST00000596124ENST00000392702ELLchr19

18632731

-MVB12Achr19

17516886

+
intron-intronENST00000596124ENST00000529939ELLchr19

18632731

-MVB12Achr19

17516886

+
intron-intronENST00000596124ENST00000528515ELLchr19

18632731

-MVB12Achr19

17516886

+
intron-intronENST00000596124ENST00000543795ELLchr19

18632731

-MVB12Achr19

17516886

+

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FusionProtFeatures for ELL_MVB12A


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

P55199

MVB12A

Q96EY5

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}. Component of the ESCRT-I complex, a regulator ofvesicular trafficking process. Required for the sorting ofendocytic ubiquitinated cargos into multivesicular bodies. May beinvolved in the ligand-mediated internalization and down-regulation of EGF receptor. {ECO:0000269|PubMed:16895919}.

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_MVB12A


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_MVB12A


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, TRIM25MVB12ATSG101, VPS37A, CD2AP, SH3KBP1, MVB12B, CEP55, APP, VPS37B, VPS37C, CIDEB, SLC25A41, TAS2R7, VPS28, ARFIP1, CEP41, SMCHD1, WARS, XPO1, CHMP4B, GRB2, MANSC1, UBE2U, CDK5R1


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_MVB12A


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_MVB12A


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