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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: 11438

FusionGeneSummary for ELL_GRIN2B

check button Fusion gene summary
Fusion gene informationFusion gene name: ELL_GRIN2B
Fusion gene ID: 11438
HgeneTgene
Gene symbol

ELL

GRIN2B

Gene ID

8178

2904

Gene nameelongation factor for RNA polymerase IIglutamate ionotropic receptor NMDA type subunit 2B
SynonymsC19orf17|ELL1|MEN|PPP1R68EIEE27|GluN2B|MRD6|NMDAR2B|NR2B|NR3|hNR3
Cytomap

19p13.11

12p13.1

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 68glutamate receptor ionotropic, NMDA 2BN-methyl D-aspartate receptor subtype 2BN-methyl-D-aspartate receptor subunit 3glutamate [NMDA] receptor subunit epsilon-2glutamate receptor subunit epsilon-2glutamate receptor, ionotropic, N-methyl D-aspartate 2
Modification date2018051920180527
UniProtAcc

P55199

Q13224

Ensembl transtripts involved in fusion geneENST00000262809, ENST00000596124, 
ENST00000609686, 
Fusion gene scores* DoF score14 X 8 X 11=12325 X 4 X 4=80
# samples 165
** MAII scorelog2(16/1232*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELL [Title/Abstract] AND GRIN2B [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)

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

TgeneGRIN2B

GO:0045471

response to ethanol

18445116

TgeneGRIN2B

GO:0097553

calcium ion transmembrane import into cytosol

26875626


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
TCGALDOVTCGA-25-1870-01AELLchr19

18632731

-GRIN2Bchr12

14019160

-
* 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
5CDS-5UTRENST00000262809ENST00000609686ELLchr19

18632731

-GRIN2Bchr12

14019160

-
intron-5UTRENST00000596124ENST00000609686ELLchr19

18632731

-GRIN2Bchr12

14019160

-

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FusionProtFeatures for ELL_GRIN2B


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

P55199

GRIN2B

Q13224

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}. Component of NMDA receptor complexes that function asheterotetrameric, ligand-gated ion channels with high calciumpermeability and voltage-dependent sensitivity to magnesium.Channel activation requires binding of the neurotransmitterglutamate to the epsilon subunit, glycine binding to the zetasubunit, plus membrane depolarization to eliminate channelinhibition by Mg(2+) (PubMed:8768735, PubMed:26919761,PubMed:26875626, PubMed:28126851). Sensitivity to glutamate andchannel kinetics depend on the subunit composition(PubMed:8768735, PubMed:26875626). In concert with DAPK1 atextrasynaptic sites, acts as a central mediator for stroke damage.Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDAreceptor channel activity inducing injurious Ca2+ influx throughthem, resulting in an irreversible neuronal death. Contributes toneural pattern formation in the developing brain. Plays a role inlong-term depression (LTD) of hippocampus membrane currents and insynaptic plasticity (By similarity).{ECO:0000250|UniProtKB:Q01097, ECO:0000269|PubMed:26875626,ECO:0000269|PubMed:26919761, ECO:0000269|PubMed:28126851,ECO:0000269|PubMed:8768735}.

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


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FusionGeneSequence for ELL_GRIN2B


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ELL_GRIN2B


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, TRIM25GRIN2BARHGAP32, DLG3, DLG4, EXOC4, EXOC3, EXOC7, DLG2, DLG1, ERBB2IP, PARK2, ACTN2, CAMK2A, GRIN1, GNB2L1, FYN, LIN7B, LIN7A, MIB2, KDM5B, SPTAN1, CAMK2G, PRKCA, TP53, CAPN1


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_GRIN2B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGRIN2BQ13224DB00454PethidineGlutamate receptor ionotropic, NMDA 2Bsmall moleculeapproved
TgeneGRIN2BQ13224DB00502HaloperidolGlutamate receptor ionotropic, NMDA 2Bsmall moleculeapproved
TgeneGRIN2BQ13224DB00949FelbamateGlutamate receptor ionotropic, NMDA 2Bsmall moleculeapproved
TgeneGRIN2BQ13224DB01043MemantineGlutamate receptor ionotropic, NMDA 2Bsmall moleculeapproved|investigational
TgeneGRIN2BQ13224DB06151AcetylcysteineGlutamate receptor ionotropic, NMDA 2Bsmall moleculeapproved|investigational
TgeneGRIN2BQ13224DB08954IfenprodilGlutamate receptor ionotropic, NMDA 2Bsmall moleculeapproved|investigational|withdrawn
TgeneGRIN2BQ13224DB00142Glutamic AcidGlutamate receptor ionotropic, NMDA 2Bsmall moleculeapproved|nutraceutical

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RelatedDiseases for ELL_GRIN2B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGRIN2BC0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneGRIN2BC0005586Bipolar Disorder5PSYGENET
TgeneGRIN2BC0011570Mental Depression5PSYGENET
TgeneGRIN2BC0011581Depressive disorder5PSYGENET
TgeneGRIN2BC3151411MENTAL RETARDATION, AUTOSOMAL DOMINANT 63UNIPROT
TgeneGRIN2BC0014544Epilepsy1CTD_human;HPO
TgeneGRIN2BC0020429Hyperalgesia1CTD_human
TgeneGRIN2BC0020649Hypotension1CTD_human
TgeneGRIN2BC0036341Schizophrenia1CTD_human
TgeneGRIN2BC0178417Anhedonia1PSYGENET
TgeneGRIN2BC1510586Autism Spectrum Disorders1CTD_human
TgeneGRIN2BC3714756Intellectual Disability1CTD_human;HPO
TgeneGRIN2BC4015316EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 271UNIPROT