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Fusion gene ID: 11442 |
FusionGeneSummary for ELL_LRRC25 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ELL_LRRC25 | Fusion gene ID: 11442 | Hgene | Tgene | Gene symbol | ELL | LRRC25 | Gene ID | 8178 | 126364 |
Gene name | elongation factor for RNA polymerase II | leucine rich repeat containing 25 | |
Synonyms | C19orf17|ELL1|MEN|PPP1R68 | MAPA | |
Cytomap | 19p13.11 | 19p13.11 | |
Type of gene | protein-coding | protein-coding | |
Description | RNA 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 68 | leucine-rich repeat-containing protein 25monocyte and plasmacytoid activated moleculemonocyte and plasmacytoid-activated protein | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | P55199 | Q8N386 | |
Ensembl transtripts involved in fusion gene | ENST00000262809, ENST00000596124, | ENST00000339007, ENST00000595840, | |
Fusion gene scores | * DoF score | 14 X 8 X 11=1232 | 2 X 1 X 2=4 |
# samples | 16 | 2 | |
** MAII score | log2(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 annotation | Oncogene 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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ELL | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | STAD | TCGA-BR-8297-01A | ELL | chr19 | 18632731 | - | LRRC25 | chr19 | 18502935 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000262809 | ENST00000339007 | ELL | chr19 | 18632731 | - | LRRC25 | chr19 | 18502935 | - |
In-frame | ENST00000262809 | ENST00000595840 | ELL | chr19 | 18632731 | - | LRRC25 | chr19 | 18502935 | - |
intron-3CDS | ENST00000596124 | ENST00000339007 | ELL | chr19 | 18632731 | - | LRRC25 | chr19 | 18502935 | - |
intron-3CDS | ENST00000596124 | ENST00000595840 | ELL | chr19 | 18632731 | - | LRRC25 | chr19 | 18502935 | - |
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FusionProtFeatures for ELL_LRRC25 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ELL | LRRC25 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >ELL | chr19:18632731 | chr19:18502935 | ENST00000262809 | - | 1 | 12 | 445_459 | 45 | 622 | Motif | Nuclear localization signal |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000339007 | - | 0 | 2 | 39_59 | 259 | 306 | Repeat | Note=LRR 1 |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000339007 | - | 0 | 2 | 62_83 | 259 | 306 | Repeat | Note=LRR 2 |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000339007 | - | 0 | 2 | 86_107 | 259 | 306 | Repeat | Note=LRR 3 |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000595840 | - | 1 | 3 | 39_59 | 259 | 306 | Repeat | Note=LRR 1 |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000595840 | - | 1 | 3 | 62_83 | 259 | 306 | Repeat | Note=LRR 2 |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000595840 | - | 1 | 3 | 86_107 | 259 | 306 | Repeat | Note=LRR 3 |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000339007 | - | 0 | 2 | 187_305 | 259 | 306 | Topological domain | Cytoplasmic |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000339007 | - | 0 | 2 | 21_165 | 259 | 306 | Topological domain | Extracellular |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000595840 | - | 1 | 3 | 187_305 | 259 | 306 | Topological domain | Cytoplasmic |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000595840 | - | 1 | 3 | 21_165 | 259 | 306 | Topological domain | Extracellular |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000339007 | - | 0 | 2 | 166_186 | 259 | 306 | Transmembrane | Helical |
Tgene | LRRC25 | chr19:18632731 | chr19:18502935 | ENST00000595840 | - | 1 | 3 | 166_186 | 259 | 306 | Transmembrane | Helical |
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FusionGeneSequence for ELL_LRRC25 |
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 MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRARQGSPFRGQXLLHQLQGHRPGFPACLLXPAVTGPGPNGXRGVRDPRA >In-frame_ELL_ENST00000262809_chr19_18632731_-_LRRC25_ENST00000595840_chr19_18502935_-_91aa MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRARQGSPFRGQXLLHQLQGHRPGFPACLLXPAVTGPGPNGXRGVRDPRA |
* 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 |
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FusionGenePPI for ELL_LRRC25 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ELL | SIRT2, 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, TRIM25 | LRRC25 | ACD |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ELL_LRRC25 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ELL_LRRC25 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |