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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: 11447

FusionGeneSummary for ELL_SMIM7

check button Fusion gene summary
Fusion gene informationFusion gene name: ELL_SMIM7
Fusion gene ID: 11447
HgeneTgene
Gene symbol

ELL

SMIM7

Gene ID

8178

79086

Gene nameelongation factor for RNA polymerase IIsmall integral membrane protein 7
SynonymsC19orf17|ELL1|MEN|PPP1R68C19orf42
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 68small integral membrane protein 7UPF0608 protein C19orf42
Modification date2018051920180519
UniProtAcc

P55199

Q9BQ49

Ensembl transtripts involved in fusion geneENST00000262809, ENST00000596124, 
ENST00000487416, ENST00000597711, 
ENST00000397349, ENST00000358726, 
Fusion gene scores* DoF score14 X 8 X 11=12324 X 3 X 3=36
# samples 163
** MAII scorelog2(16/1232*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELL [Title/Abstract] AND SMIM7 [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
TCGALDBRCATCGA-A2-A04U-01AELLchr19

18632731

-SMIM7chr19

16758072

-
* 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-frameENST00000262809ENST00000487416ELLchr19

18632731

-SMIM7chr19

16758072

-
In-frameENST00000262809ENST00000597711ELLchr19

18632731

-SMIM7chr19

16758072

-
5CDS-5UTRENST00000262809ENST00000397349ELLchr19

18632731

-SMIM7chr19

16758072

-
5CDS-intronENST00000262809ENST00000358726ELLchr19

18632731

-SMIM7chr19

16758072

-
intron-3CDSENST00000596124ENST00000487416ELLchr19

18632731

-SMIM7chr19

16758072

-
intron-3CDSENST00000596124ENST00000597711ELLchr19

18632731

-SMIM7chr19

16758072

-
intron-5UTRENST00000596124ENST00000397349ELLchr19

18632731

-SMIM7chr19

16758072

-
intron-intronENST00000596124ENST00000358726ELLchr19

18632731

-SMIM7chr19

16758072

-

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FusionProtFeatures for ELL_SMIM7


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

P55199

SMIM7

Q9BQ49

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}.

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
TgeneSMIM7chr19:18632731chr19:16758072ENST00000487416-3575_757076Topological domainCytoplasmic

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneELLchr19:18632731chr19:16758072ENST00000262809-112445_45945622MotifNuclear localization signal
TgeneSMIM7chr19:18632731chr19:16758072ENST00000487416-3518_537076Topological domainExtracellular
TgeneSMIM7chr19:18632731chr19:16758072ENST00000487416-3554_747076TransmembraneHelical


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FusionGeneSequence for ELL_SMIM7


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_-_SMIM7_ENST00000487416_chr19_16758072_-_50aa

>In-frame_ELL_ENST00000262809_chr19_18632731_-_SMIM7_ENST00000597711_chr19_16758072_-_54aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ELL_ENST00000262809_chr19_18632731_-_SMIM7_ENST00000487416_chr19_16758072_-_151nt
ATGGCGGCGCTGAAGGAGGATAGGAGCTACGGGCTGTCGTGCGGGCGGGTTAGCGACGGCAGCAAGGTGTCGGTGTTCCACGTGAAGCTC

>In-frame_ELL_ENST00000262809_chr19_18632731_-_SMIM7_ENST00000597711_chr19_16758072_-_164nt
ATGGCGGCGCTGAAGGAGGATAGGAGCTACGGGCTGTCGTGCGGGCGGGTTAGCGACGGCAGCAAGGTGTCGGTGTTCCACGTGAAGCTC


* Fusion transcript sequences (Full-length transcript).
>In-frame_ELL_ENST00000262809_chr19_18632731_-_SMIM7_ENST00000487416_chr19_16758072_-_2724nt
GGCGGGGCGGGGCGTGGCCGGCGTGGCGGCGCTGGAGCCGGGAAGGGGGCGCGGGGGAGAGATGGTCGCAAGATGGCGGCGCTGAAGGAG
GATAGGAGCTACGGGCTGTCGTGCGGGCGGGTTAGCGACGGCAGCAAGGTGTCGGTGTTCCACGTGAAGCTCACCGACAGTGCCCTGAGG
GCCTTCGAGAGCTACCGCGCCAGACAGGCTGTTCGGCTCTTGAATCCCAGCGATGAAACCAGGAACTCACTTTCCCGGGATGCCGAGTCT
CCATTCCTCCATTCCTGATGACTTCAAGAATGTTTTTGACCAGAAAACCGACAACCTTCCCAGAAAGTCCAAGCTCGTGGTGGGTGGAAA
AGTGTTCGCCGAGGTGTGCATGGTTTCCCAGCCACGTCCCTGTTTTCAAAGATAGTTTCACTTTGGTCTCTGAATTGAAATGCTGTCTAC
TGAAAGGGTTTCAGGAGCGTTTATGTAAGGGGCTGTGATGAAATTGCATTCCCCATAGATAAAAGAAAAATCATTTCTATCCAGAGATCT
GAGCAGAAGGATTGGCTTGTTAGTTTAACACAGCCGTATTTTTGGACATTCAGTGTTACTTGCTGAGTCTGACAGCCTCTGGGCCCGGCC
AGGGGCCCTGTTAACAAACTGCTTTCACATCCCAACAGGGTCTGCTTGGCCACTCAGTGCAGCTGCGATTAACCCTAAAGGCTTTAAGGA
ACGGGCCACCTGTAACAGAGACACCAGCCTTCCTGTATAGACACTAAATTGTTAGCAAGAGTGTTGAGCTAGTTCCTGGTGAAGTGTTTC
CACAGAAGACATGTGGAGCAGTTGTGGGGATATTAAGGGAAACTTTCCTCTGCCTTGACCCCTTTGTTAAATAAAATGACTTTGGGAGCC
ATTCATTGTACAGTTGCAGGAATGAGAGTGATTTTATGATGTGGTACATTGGGACCATGTTCTAAAACCTTGGGTTTCTGAGTCTGCTTT
TTGAGTAGGTGATTTTGAGGTTGAAAAACCAGGGGCCTTCATCTAGGAAATACAGCATTTTCCAGAAGCTTCTTTGAAAGGGAATCCTGG
TTTTGTTGCCAAAATGAAACGCCCGGGGTTGGCGCTGAATCCCACAACTGTGTGATTTGCTTGTTGAGTTTTTTGTTGTCTGGTTTTTTT
GTTTGTTTGTTTATACCAATAAGAATGAGCCTGAATGTTGGTGGTTTTTGAAATCCTGACTTGGAGGTAAACCTGGAGGAAGGAAAAAAA
GTAAATATGCAGGCTTTTAGGACTGAGTAGCCTTGAAAATAAACCTCATTTCTAAAAAGGACCTTTTGTTTATACTTTTTTTTTTTTTTT
AACCAAGAAGTCAATTTCCAACCTGAGTCCTTTTGAATTTACCCTGCTGGAAAAACCTAGGATTCATTTTGGAGGCCATGAGAAAGAAAA
GAGTCAGTGGTAGAGTTTCCTTTTTGGATTTAGCTCAATAAATGATGGTCAAGAATTGGGCAAGTGGGGCTGCGCGCAGTGGCTCATACC
TGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGCGGATCACTTGAGGTCAGGAGTTCGAAACTAGCCTGGCCAACATGGTGAAATCGCAT
CTCTACTAAAAATAGAAAAATTAGCCAGATATGGTGGCACACGCCTATAATCCCAGCTACTCGGGTGGCTGAGGCACAAGAATTGCTTAA
ATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACTTCAGCCTGGGTGAGACAATGAGATTCTGTCTCAAAAAAAAAAA
AAAAAAAAGAATTGAGTAAGTGGAATTTTGACTGGAGCTGCTCCTGAAAGTATTGAAAGAGTCATTGCTAATGGTGGGCTCTTGCTAGAC
CAGGGTCAAGTCCACTTTTGCTGCCTCTCAGGTTGTGGAATTCTCCTTGATCACTTCTGCAATTCATTTCCTTGCCAAATCTCAGCCAAG
CATCACCCCAAGGTCTGTAAGTAGCAGAGATCGGAGCTGCTGGGTCTGGCTTTGCTGAGGCCGGTGTCGCTGTCAGAACAGGCACGCCAA
GATCTTGGCTGGGTCCCTCACAGGCCAGATGAATGGTGTGAAGAAACCTTCCTGCCTTATTCAGACTGGCGCGGAGGTCTCAATGAGGCG
AGGCATTTGTCCATTATGGGGATGAATCGTGCTCTCAGAAGAGAATCCTGTCATTGAGGTTTTGTTTCAATAGTCCTCTTTTTCTCCAGA
GAACTGTTGTCTCATTGTTAATAATAGCAGCGTGGCTTTTTCAGATGCTGGTTGGTGGCTGCTGTACATTTTAAAAATGGAATCTCATGG
TTGTGTCTCTTAAGGAAGCTTTTCAAGAACTTTACTGGCACCAGAGGTTATCAGAGTTTGAAGTTTGGGTGCCTAGTGTCTCACAGTGTT
TAAGCACTAATGTTCTGGGTCAGTTAGGTGTGAGTACAAATCCCATCTCAGCTCATTCTGAGAGGGACCTTGGCTAATTGCTTTCTCCTC
TCCAAGCCTCAGTTTCCACATCTCTAAAATCGGCCTGCAAGTAGTGTGTGCCTAAGGTTGTTGTAAGTTTCAATGAACTCGAATGCGGCT
GAGTGCCTGAGAGCACCTGTTGCTGTGGGTATCATCACCGTGTGTGTTTTCTGTCTTCTCATCCACTTTTCTTTGTGCAGTCTGCACACA

>In-frame_ELL_ENST00000262809_chr19_18632731_-_SMIM7_ENST00000597711_chr19_16758072_-_1127nt
GGCGGGGCGGGGCGTGGCCGGCGTGGCGGCGCTGGAGCCGGGAAGGGGGCGCGGGGGAGAGATGGTCGCAAGATGGCGGCGCTGAAGGAG
GATAGGAGCTACGGGCTGTCGTGCGGGCGGGTTAGCGACGGCAGCAAGGTGTCGGTGTTCCACGTGAAGCTCACCGACAGTGCCCTGAGG
GCCTTCGAGAGCTACCGCGCCAGACAGGCTGTTCGGCTCTTGAATCCCAGCGATGAAACCAGGAACTCACTTTCCCGGGATGCCGAGTCT
CCATTCCTCCATTCCTGATGACTTCAAGAATGTTTTTGACCAGAAAACCGACAACCTTCCCAGAAAGTCCAAGCTCGTGGTGGGTGGAAA
AGTGTTCGCCGAGGTGTGCATGGTTTCCCAGCCACGTCCCTGTTTTCAAAGATAGTTTCACTTTGGTCTCTGAATTGAAATGCTGTCTAC
TGAAAGGGTTTCAGGAGCGTTTATGTAAGGGGCTGTGATGAAATTGCATTCCCCATAGATAAAAGAAAAATCATTTCTATCCAGAGATCT
GAGCAGAAGGATTGGCTTGTTAGTTTAACACAGCCGTATTTTTGGACATTCAGTGTTACTTGCTGAGTCTGACAGCCTCTGGGCCCGGCC
AGGGGCCCTGTTAACAAACTGCTTTCACATCCCAACAGGGTCTGCTTGGCCACTCAGTGCAGCTGCGATTAACCCTAAAGGCTTTAAGGA
ACGGGCCACCTGTAACAGAGACACCAGCCTTCCTGTATAGACACTAAATTGTTAGCAAGAGTGTTGAGCTAGTTCCTGGTGAAGTGTTTC
CACAGAAGACATGTGGAGCAGTTGTGGGGATATTAAGGGAAACTTTCCTCTGCCTTGACCCCTTTGTTAAATAAAATGACTTTGGGAGCC
ATTCATTGTACAGTTGCAGGAATGAGAGTGATTTTATGATGTGGTACATTGGGACCATGTTCTAAAACCTTGGGTTTCTGAGTCTGCTTT
TTGAGTAGGTGATTTTGAGGTTGAAAAACCAGGGGCCTTCATCTAGGAAATACAGCATTTTCCAGAAGCTTCTTTGAAAGGGAATCCTGG


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FusionGenePPI for ELL_SMIM7


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, TRIM25SMIM7ELAVL1


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_SMIM7


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_SMIM7


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