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Fusion gene ID: 11446 |
FusionGeneSummary for ELL_RABGGTA |
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Fusion gene information | Fusion gene name: ELL_RABGGTA | Fusion gene ID: 11446 | Hgene | Tgene | Gene symbol | ELL | RABGGTA | Gene ID | 8178 | 5875 |
Gene name | elongation factor for RNA polymerase II | Rab geranylgeranyltransferase subunit alpha | |
Synonyms | C19orf17|ELL1|MEN|PPP1R68 | PTAR3 | |
Cytomap | 19p13.11 | 14q12 | |
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 | geranylgeranyl transferase type-2 subunit alphaRab GG transferase alphaRab GGTase alphaRab geranylgeranyltransferase alpha subunitgeranylgeranyl transferase type II subunit alphaprotein prenyltransferase alpha subunit repeat containing 3rab geranyl- | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | P55199 | Q92696 | |
Ensembl transtripts involved in fusion gene | ENST00000262809, ENST00000596124, | ENST00000399409, ENST00000216840, ENST00000560777, ENST00000559586, | |
Fusion gene scores | * DoF score | 14 X 8 X 11=1232 | 1 X 1 X 1=1 |
# samples | 16 | 1 | |
** MAII score | log2(16/1232*10)=-2.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: ELL [Title/Abstract] AND RABGGTA [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ELL | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
![]() (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 | THYM | TCGA-4V-A9QJ-01A | ELL | chr19 | 18557558 | - | RABGGTA | chr14 | 24740375 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5CDS-5UTR | ENST00000262809 | ENST00000399409 | ELL | chr19 | 18557558 | - | RABGGTA | chr14 | 24740375 | - |
5CDS-5UTR | ENST00000262809 | ENST00000216840 | ELL | chr19 | 18557558 | - | RABGGTA | chr14 | 24740375 | - |
5CDS-intron | ENST00000262809 | ENST00000560777 | ELL | chr19 | 18557558 | - | RABGGTA | chr14 | 24740375 | - |
5CDS-5UTR | ENST00000262809 | ENST00000559586 | ELL | chr19 | 18557558 | - | RABGGTA | chr14 | 24740375 | - |
5CDS-5UTR | ENST00000596124 | ENST00000399409 | ELL | chr19 | 18557558 | - | RABGGTA | chr14 | 24740375 | - |
5CDS-5UTR | ENST00000596124 | ENST00000216840 | ELL | chr19 | 18557558 | - | RABGGTA | chr14 | 24740375 | - |
5CDS-intron | ENST00000596124 | ENST00000560777 | ELL | chr19 | 18557558 | - | RABGGTA | chr14 | 24740375 | - |
5CDS-5UTR | ENST00000596124 | ENST00000559586 | ELL | chr19 | 18557558 | - | RABGGTA | chr14 | 24740375 | - |
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FusionProtFeatures for ELL_RABGGTA |
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Hgene | Tgene |
ELL | RABGGTA |
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}. | Catalyzes the transfer of a geranylgeranyl moiety fromgeranylgeranyl diphosphate to both cysteines of Rab proteins withthe C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A,RAB3A, RAB5A and RAB7A. {ECO:0000269|PubMed:7991565}. |
![]() * 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_RABGGTA |
![]() (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_RABGGTA |
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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 | RABGGTA | RBMXL2, PFDN2, SSB, UBA2, VBP1, RAB3A, RAB1B, RAB32, RABGGTB, RAB31, RAB9B, ETFB, RAB6B, RAB7B, RAB9A, DPCD, CHML, RAB5A, CHM, RAB29, LAMP3, GAPDH, YKT6, RAB1A, ENSA, RAB30, ILVBL |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ELL_RABGGTA |
![]() (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_RABGGTA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |