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Fusion gene ID: 11435 |
FusionGeneSummary for ELL_CISD3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ELL_CISD3 | Fusion gene ID: 11435 | Hgene | Tgene | Gene symbol | ELL | CISD3 | Gene ID | 8178 | 284106 |
| Gene name | elongation factor for RNA polymerase II | CDGSH iron sulfur domain 3 | |
| Synonyms | C19orf17|ELL1|MEN|PPP1R68 | MiNT|Miner2 | |
| Cytomap | 19p13.11 | 17q12 | |
| 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 | CDGSH iron-sulfur domain-containing protein 3, mitochondrialmitoNEET related 2mitoNEET-related protein 2mitochondrial inner NEET protein | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P55199 | P0C7P0 | |
| Ensembl transtripts involved in fusion gene | ENST00000262809, ENST00000596124, | ENST00000439660, ENST00000578573, | |
| Fusion gene scores | * DoF score | 14 X 8 X 11=1232 | 5 X 2 X 4=40 |
| # samples | 16 | 5 | |
| ** MAII score | log2(16/1232*10)=-2.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ELL [Title/Abstract] AND CISD3 [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) |
| 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 | RV | KIRC | TCGA-B0-4945-01A | ELL | chr19 | 18576222 | - | CISD3 | chr17 | 36887013 | + |
| * 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 |
| Frame-shift | ENST00000262809 | ENST00000439660 | ELL | chr19 | 18576222 | - | CISD3 | chr17 | 36887013 | + |
| 5CDS-3UTR | ENST00000262809 | ENST00000578573 | ELL | chr19 | 18576222 | - | CISD3 | chr17 | 36887013 | + |
| Frame-shift | ENST00000596124 | ENST00000439660 | ELL | chr19 | 18576222 | - | CISD3 | chr17 | 36887013 | + |
| 5CDS-3UTR | ENST00000596124 | ENST00000578573 | ELL | chr19 | 18576222 | - | CISD3 | chr17 | 36887013 | + |
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FusionProtFeatures for ELL_CISD3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ELL | CISD3 |
| 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}. | Can transfer its iron-sulfur clusters to theapoferrodoxins FDX1 and FDX2. Contributes to mitochondrial ironhomeostasis and in maintaining normal levels of free iron andreactive oxygen species, and thereby contributes to normalmitochondrial function. {ECO:0000269|PubMed:29259115}. |
| 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 |
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FusionGeneSequence for ELL_CISD3 |
| 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_CISD3 |
| 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 | CISD3 | NCAPD3, CISD3, MIPEP, ERAL1, AFG3L2, CLPX, GRSF1, SCO2, CLPB, PMPCA, PMPCB, TRMT10C, POLRMT, CHCHD2, STOML2, COX6A1, MTERF3, TOMM5, IDE, PITRM1, TIMM44, YARS2, MTX1, ATP5H, GLS, POLDIP2, BCKDHA, NDUFA2, DHX30, UQCRFS1, NT5DC2, TARS2, NDUFA5, ATP5E, TIMM50, ATP5O, GLRX5, UQCRB, NDUFS2, ECH1, COX6C, SLC25A1, ATP5F1, NDUFS3, DHCR24, SLC16A1, NDUFS1, MRPL22, SARS2, NIPSNAP1, NDUFC2, MAVS, MRPS10, MRPS33, C1QBP, ABHD10, NRD1, ATP5C1, MMADHC, NDUFA8, CHCHD4, DLAT, COX7A2, ATP5J, SCO1, COASY, SPG20, UQCRC2, COX5A, GSTK1, TBRG4, HAVCR2, LRFN4, SMOC1, ADAM33, CACNG5 |
| - 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_CISD3 |
| 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_CISD3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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