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: 11442

FusionGeneSummary for ELL_LRRC25

check button Fusion gene summary
Fusion gene informationFusion gene name: ELL_LRRC25
Fusion gene ID: 11442
HgeneTgene
Gene symbol

ELL

LRRC25

Gene ID

8178

126364

Gene nameelongation factor for RNA polymerase IIleucine rich repeat containing 25
SynonymsC19orf17|ELL1|MEN|PPP1R68MAPA
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 68leucine-rich repeat-containing protein 25monocyte and plasmacytoid activated moleculemonocyte and plasmacytoid-activated protein
Modification date2018051920180519
UniProtAcc

P55199

Q8N386

Ensembl transtripts involved in fusion geneENST00000262809, ENST00000596124, 
ENST00000339007, ENST00000595840, 
Fusion gene scores* DoF score14 X 8 X 11=12322 X 1 X 2=4
# samples 162
** MAII scorelog2(16/1232*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: ELL [Title/Abstract] AND LRRC25 [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
TCGALDSTADTCGA-BR-8297-01AELLchr19

18632731

-LRRC25chr19

18502935

-
* 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
In-frameENST00000262809ENST00000339007ELLchr19

18632731

-LRRC25chr19

18502935

-
In-frameENST00000262809ENST00000595840ELLchr19

18632731

-LRRC25chr19

18502935

-
intron-3CDSENST00000596124ENST00000339007ELLchr19

18632731

-LRRC25chr19

18502935

-
intron-3CDSENST00000596124ENST00000595840ELLchr19

18632731

-LRRC25chr19

18502935

-

Top

FusionProtFeatures for ELL_LRRC25


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

P55199

LRRC25

Q8N386

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}. Plays a role in the inhibition of RLR-mediated type Iinterferon signaling pathway by targeting DDX58/RIG-I forautophagic degradation. Interacts specifically with ISG15-associated DDX58 to promote interaction between DDX58 and theautophagic cargo receptor p62/SQSTM1 to mediate DDX58 degradationvia selective autophagy (PubMed:29288164). Plays also a role inthe inhibition of NF-kappa-B signaling pathway and inflammatoryresponse by promoting the degradation of p65/RELA.{ECO:0000269|PubMed:12384430, ECO:0000269|PubMed:29044191,ECO:0000269|PubMed:29288164}.

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
HgeneELLchr19:18632731chr19:18502935ENST00000262809-112445_45945622MotifNuclear localization signal
TgeneLRRC25chr19:18632731chr19:18502935ENST00000339007-0239_59259306RepeatNote=LRR 1
TgeneLRRC25chr19:18632731chr19:18502935ENST00000339007-0262_83259306RepeatNote=LRR 2
TgeneLRRC25chr19:18632731chr19:18502935ENST00000339007-0286_107259306RepeatNote=LRR 3
TgeneLRRC25chr19:18632731chr19:18502935ENST00000595840-1339_59259306RepeatNote=LRR 1
TgeneLRRC25chr19:18632731chr19:18502935ENST00000595840-1362_83259306RepeatNote=LRR 2
TgeneLRRC25chr19:18632731chr19:18502935ENST00000595840-1386_107259306RepeatNote=LRR 3
TgeneLRRC25chr19:18632731chr19:18502935ENST00000339007-02187_305259306Topological domainCytoplasmic
TgeneLRRC25chr19:18632731chr19:18502935ENST00000339007-0221_165259306Topological domainExtracellular
TgeneLRRC25chr19:18632731chr19:18502935ENST00000595840-13187_305259306Topological domainCytoplasmic
TgeneLRRC25chr19:18632731chr19:18502935ENST00000595840-1321_165259306Topological domainExtracellular
TgeneLRRC25chr19:18632731chr19:18502935ENST00000339007-02166_186259306TransmembraneHelical
TgeneLRRC25chr19:18632731chr19:18502935ENST00000595840-13166_186259306TransmembraneHelical


Top

FusionGeneSequence for ELL_LRRC25


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.
>In-frame_ELL_ENST00000262809_chr19_18632731_-_LRRC25_ENST00000339007_chr19_18502935_-_91aa
MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRARQGSPFRGQ_LLHQLQGHRPGFPACLL_PAVTGPGPNG_RGVRDPRA

>In-frame_ELL_ENST00000262809_chr19_18632731_-_LRRC25_ENST00000595840_chr19_18502935_-_91aa
MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRARQGSPFRGQ_LLHQLQGHRPGFPACLL_PAVTGPGPNG_RGVRDPRA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ELL_ENST00000262809_chr19_18632731_-_LRRC25_ENST00000339007_chr19_18502935_-_274nt
ATGGCGGCGCTGAAGGAGGATAGGAGCTACGGGCTGTCGTGCGGGCGGGTTAGCGACGGCAGCAAGGTGTCGGTGTTCCACGTGAAGCTC
ACCGACAGTGCCCTGAGGGCCTTCGAGAGCTACCGCGCCAGACAGGGCTCACCCTTCAGAGGACAATGACTTTTACATCAACTACAAGGA
CATCGACCTGGCTTCCCAGCCTGTCTACTGTAACCTGCAGTCACTGGGCCAGGCCCCAATGGATGAAGAGGAGTACGTGATCCCCGGGCA

>In-frame_ELL_ENST00000262809_chr19_18632731_-_LRRC25_ENST00000595840_chr19_18502935_-_274nt
ATGGCGGCGCTGAAGGAGGATAGGAGCTACGGGCTGTCGTGCGGGCGGGTTAGCGACGGCAGCAAGGTGTCGGTGTTCCACGTGAAGCTC
ACCGACAGTGCCCTGAGGGCCTTCGAGAGCTACCGCGCCAGACAGGGCTCACCCTTCAGAGGACAATGACTTTTACATCAACTACAAGGA
CATCGACCTGGCTTCCCAGCCTGTCTACTGTAACCTGCAGTCACTGGGCCAGGCCCCAATGGATGAAGAGGAGTACGTGATCCCCGGGCA


* Fusion transcript sequences (Full-length transcript).
>In-frame_ELL_ENST00000262809_chr19_18632731_-_LRRC25_ENST00000339007_chr19_18502935_-_1189nt
GGCGGGGCGGGGCGTGGCCGGCGTGGCGGCGCTGGAGCCGGGAAGGGGGCGCGGGGGAGAGATGGTCGCAAGATGGCGGCGCTGAAGGAG
GATAGGAGCTACGGGCTGTCGTGCGGGCGGGTTAGCGACGGCAGCAAGGTGTCGGTGTTCCACGTGAAGCTCACCGACAGTGCCCTGAGG
GCCTTCGAGAGCTACCGCGCCAGACAGGGCTCACCCTTCAGAGGACAATGACTTTTACATCAACTACAAGGACATCGACCTGGCTTCCCA
GCCTGTCTACTGTAACCTGCAGTCACTGGGCCAGGCCCCAATGGATGAAGAGGAGTACGTGATCCCCGGGCACTGAGCCTAAGATGTCCT
AACCTCCACCCAGAACCCCTTCAGTCCCTGCTGGGTGACTCAGGGCGTCCTAACGCCTCCATGGCCTCAGTTTCCCCATCTGAAGAATGG
GTACAGGAAAGGATTGTCCTTGAGGCCCCAGGAAGCTCTGCCGCCCCCTCCCTGTCCCTCATGCCGCTCCTCAGCTCCCTCAGCTCCTAG
AGGGGGAAGAGGAGAGACCCCCAACAAGGGGACAGGACGGTCACTGTGCCAATCCTGTCATCACCCTCCTGTGGATGTACAGGCAGTGCT
CAATAAATGCTTCGAGGCTGATGAGGCTGCTGGCTCAGGGTGCGTGGGTTCCTCAAGGTGGGGATTTCTGAGTTCTAAGACCAAGTCTCC
ATCTGAGACTCCCAAATTGCTCCCCACCTCCCATCCCTGTTTTTTTTTGTTGTTGTTGTTTGTTTGTTTGTTTTTGAAACTGAGTGTCAC
TCTGTCACCCAGGCTGGAGTGCAATGCTGCGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTC
CTGAGTAGCTGGGATTACAGCACCCGCCACCATGCCGAGCTAATTTTTGTATTTATAATAGAGATGGGGTTTCGCCATGTTGGCCAGGCT
GGTCTCGAACTCCTGACCTCAAGCGATCTGCCCGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGCGTGGCCACTGCGCCCAGGCACATT
CCTCCCTTCTGCCCCTCTCAGGGCCCCTTCCCAGGTCCCTGATCTCCAGGCTTGGCCTCCAGAGCAGCCCACACCAACCCCAAAATAAAA

>In-frame_ELL_ENST00000262809_chr19_18632731_-_LRRC25_ENST00000595840_chr19_18502935_-_1184nt
GGCGGGGCGGGGCGTGGCCGGCGTGGCGGCGCTGGAGCCGGGAAGGGGGCGCGGGGGAGAGATGGTCGCAAGATGGCGGCGCTGAAGGAG
GATAGGAGCTACGGGCTGTCGTGCGGGCGGGTTAGCGACGGCAGCAAGGTGTCGGTGTTCCACGTGAAGCTCACCGACAGTGCCCTGAGG
GCCTTCGAGAGCTACCGCGCCAGACAGGGCTCACCCTTCAGAGGACAATGACTTTTACATCAACTACAAGGACATCGACCTGGCTTCCCA
GCCTGTCTACTGTAACCTGCAGTCACTGGGCCAGGCCCCAATGGATGAAGAGGAGTACGTGATCCCCGGGCACTGAGCCTAAGATGTCCT
AACCTCCACCCAGAACCCCTTCAGTCCCTGCTGGGTGACTCAGGGCGTCCTAACGCCTCCATGGCCTCAGTTTCCCCATCTGAAGAATGG
GTACAGGAAAGGATTGTCCTTGAGGCCCCAGGAAGCTCTGCCGCCCCCTCCCTGTCCCTCATGCCGCTCCTCAGCTCCCTCAGCTCCTAG
AGGGGGAAGAGGAGAGACCCCCAACAAGGGGACAGGACGGTCACTGTGCCAATCCTGTCATCACCCTCCTGTGGATGTACAGGCAGTGCT
CAATAAATGCTTCGAGGCTGATGAGGCTGCTGGCTCAGGGTGCGTGGGTTCCTCAAGGTGGGGATTTCTGAGTTCTAAGACCAAGTCTCC
ATCTGAGACTCCCAAATTGCTCCCCACCTCCCATCCCTGTTTTTTTTTGTTGTTGTTGTTTGTTTGTTTGTTTTTGAAACTGAGTGTCAC
TCTGTCACCCAGGCTGGAGTGCAATGCTGCGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTC
CTGAGTAGCTGGGATTACAGCACCCGCCACCATGCCGAGCTAATTTTTGTATTTATAATAGAGATGGGGTTTCGCCATGTTGGCCAGGCT
GGTCTCGAACTCCTGACCTCAAGCGATCTGCCCGCCTCGGCCTCCTGAAGTGCTGGGATTACAGGCGTGGCCACTGCGCCCAGGCACATT
CCTCCCTTCTGCCCCTCTCAGGGCCCCTTCCCAGGTCCCTGATCTCCAGGCTTGGCCTCCAGAGCAGCCCACACCAACCCCAAAATAAAA


Top

FusionGenePPI for ELL_LRRC25


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, TRIM25LRRC25ACD


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 ELL_LRRC25


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 ELL_LRRC25


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