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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: 35653

FusionGeneSummary for SPEN_SPEN

check button Fusion gene summary
Fusion gene informationFusion gene name: SPEN_SPEN
Fusion gene ID: 35653
HgeneTgene
Gene symbol

SPEN

SPEN

Gene ID

64783

64783

Gene nameRNA binding motif protein 15RNA binding motif protein 15
SynonymsOTT|OTT1|SPENOTT|OTT1|SPEN
Cytomap

1p13.3

1p13.3

Type of geneprotein-codingprotein-coding
Descriptionputative RNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1putative RNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1
Modification date2018052320180523
UniProtAcc

Q96T58

Q96T58

Ensembl transtripts involved in fusion geneENST00000375759, ENST00000471538, 
ENST00000375759, ENST00000471538, 
Fusion gene scores* DoF score15 X 10 X 12=18004 X 5 X 2=40
# samples 229
** MAII scorelog2(22/1800*10)=-3.03242147769238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/40*10)=1.16992500144231
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SPEN [Title/Abstract] AND SPEN [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
HgeneSPEN

GO:0045892

negative regulation of transcription, DNA-templated

16129689

TgeneSPEN

GO:0045892

negative regulation of transcription, DNA-templated

16129689


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
ChiTaRS3.1AA426315SPENchr1

16266262

-SPENchr1

16266318

+
ChiTaRS3.1BE164907SPENchr1

16264303

-SPENchr1

16264131

+
ChiTaRS3.1BE080998SPENchr1

16264303

-SPENchr1

16264131

+
ChiTaRS3.1BE164864SPENchr1

16264303

-SPENchr1

16264131

+
* 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
3UTR-3UTRENST00000375759ENST00000375759SPENchr1

16266262

-SPENchr1

16266318

+
3UTR-intronENST00000375759ENST00000471538SPENchr1

16266262

-SPENchr1

16266318

+
intron-3UTRENST00000471538ENST00000375759SPENchr1

16266262

-SPENchr1

16266318

+
intron-intronENST00000471538ENST00000471538SPENchr1

16266262

-SPENchr1

16266318

+
intron-3CDSENST00000375759ENST00000375759SPENchr1

16264303

-SPENchr1

16264131

+
intron-intronENST00000375759ENST00000471538SPENchr1

16264303

-SPENchr1

16264131

+
intron-3CDSENST00000471538ENST00000375759SPENchr1

16264303

-SPENchr1

16264131

+
intron-intronENST00000471538ENST00000471538SPENchr1

16264303

-SPENchr1

16264131

+

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FusionProtFeatures for SPEN_SPEN


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

Q96T58

SPEN

Q96T58

May serve as a nuclear matrix platform that organizesand integrates transcriptional responses. In osteoblasts, supportstranscription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element(OCFRE) (By similarity). Has also been shown to be an essentialcorepressor protein, which probably regulates different keypathways such as the Notch pathway. Negative regulator of theNotch pathway via its interaction with RBPSUH, which prevents theassociation between NOTCH1 and RBPSUH, and therefore suppressesthe transactivation activity of Notch signaling. Blocks thedifferentiation of precursor B-cells into marginal zone B-cells.Probably represses transcription via the recruitment of largecomplexes containing histone deacetylase proteins. May bind bothto DNA and RNA. {ECO:0000250, ECO:0000269|PubMed:11331609,ECO:0000269|PubMed:12374742}. May serve as a nuclear matrix platform that organizesand integrates transcriptional responses. In osteoblasts, supportstranscription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element(OCFRE) (By similarity). Has also been shown to be an essentialcorepressor protein, which probably regulates different keypathways such as the Notch pathway. Negative regulator of theNotch pathway via its interaction with RBPSUH, which prevents theassociation between NOTCH1 and RBPSUH, and therefore suppressesthe transactivation activity of Notch signaling. Blocks thedifferentiation of precursor B-cells into marginal zone B-cells.Probably represses transcription via the recruitment of largecomplexes containing histone deacetylase proteins. May bind bothto DNA and RNA. {ECO:0000250, ECO:0000269|PubMed:11331609,ECO:0000269|PubMed:12374742}.

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 SPEN_SPEN


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 SPEN_SPEN


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


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 SPEN_SPEN


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 SPEN_SPEN


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