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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: 35648

FusionGeneSummary for SPEN_FBLIM1

check button Fusion gene summary
Fusion gene informationFusion gene name: SPEN_FBLIM1
Fusion gene ID: 35648
HgeneTgene
Gene symbol

SPEN

FBLIM1

Gene ID

64783

54751

Gene nameRNA binding motif protein 15filamin binding LIM protein 1
SynonymsOTT|OTT1|SPENCAL|FBLP-1|FBLP1
Cytomap

1p13.3

1p36.21

Type of geneprotein-codingprotein-coding
Descriptionputative RNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1filamin-binding LIM protein 1CSX-associated LIMMIG2-interacting proteinmigfilinmitogen-inducible 2 interacting protein
Modification date2018052320180519
UniProtAcc

Q96T58

Q8WUP2

Ensembl transtripts involved in fusion geneENST00000375759, ENST00000471538, 
ENST00000375771, ENST00000375766, 
ENST00000400773, ENST00000441801, 
ENST00000332305, ENST00000509138, 
Fusion gene scores* DoF score15 X 10 X 12=18004 X 5 X 5=100
# samples 227
** MAII scorelog2(22/1800*10)=-3.03242147769238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/100*10)=-0.514573172829758
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPEN [Title/Abstract] AND FBLIM1 [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


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
TCGARVBLCATCGA-K4-A3WV-01ASPENchr1

16203173

+FBLIM1chr1

16090991

+
TCGARVLIHCTCGA-RC-A6M3-01ASPENchr1

16174645

+FBLIM1chr1

16096904

+
TCGARVLIHCTCGA-5C-AAPD-01ASPENchr1

16203173

+FBLIM1chr1

16101113

+
* 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-5UTRENST00000375759ENST00000375771SPENchr1

16203173

+FBLIM1chr1

16090991

+
5CDS-5UTRENST00000375759ENST00000375766SPENchr1

16203173

+FBLIM1chr1

16090991

+
5CDS-5UTRENST00000375759ENST00000400773SPENchr1

16203173

+FBLIM1chr1

16090991

+
5CDS-5UTRENST00000375759ENST00000441801SPENchr1

16203173

+FBLIM1chr1

16090991

+
5CDS-intronENST00000375759ENST00000332305SPENchr1

16203173

+FBLIM1chr1

16090991

+
5CDS-intronENST00000375759ENST00000509138SPENchr1

16203173

+FBLIM1chr1

16090991

+
3UTR-5UTRENST00000471538ENST00000375771SPENchr1

16203173

+FBLIM1chr1

16090991

+
3UTR-5UTRENST00000471538ENST00000375766SPENchr1

16203173

+FBLIM1chr1

16090991

+
3UTR-5UTRENST00000471538ENST00000400773SPENchr1

16203173

+FBLIM1chr1

16090991

+
3UTR-5UTRENST00000471538ENST00000441801SPENchr1

16203173

+FBLIM1chr1

16090991

+
3UTR-intronENST00000471538ENST00000332305SPENchr1

16203173

+FBLIM1chr1

16090991

+
3UTR-intronENST00000471538ENST00000509138SPENchr1

16203173

+FBLIM1chr1

16090991

+
Frame-shiftENST00000375759ENST00000375771SPENchr1

16174645

+FBLIM1chr1

16096904

+
Frame-shiftENST00000375759ENST00000375766SPENchr1

16174645

+FBLIM1chr1

16096904

+
Frame-shiftENST00000375759ENST00000400773SPENchr1

16174645

+FBLIM1chr1

16096904

+
Frame-shiftENST00000375759ENST00000441801SPENchr1

16174645

+FBLIM1chr1

16096904

+
Frame-shiftENST00000375759ENST00000332305SPENchr1

16174645

+FBLIM1chr1

16096904

+
5CDS-intronENST00000375759ENST00000509138SPENchr1

16174645

+FBLIM1chr1

16096904

+
intron-3CDSENST00000471538ENST00000375771SPENchr1

16174645

+FBLIM1chr1

16096904

+
intron-3CDSENST00000471538ENST00000375766SPENchr1

16174645

+FBLIM1chr1

16096904

+
intron-3CDSENST00000471538ENST00000400773SPENchr1

16174645

+FBLIM1chr1

16096904

+
intron-3CDSENST00000471538ENST00000441801SPENchr1

16174645

+FBLIM1chr1

16096904

+
intron-3CDSENST00000471538ENST00000332305SPENchr1

16174645

+FBLIM1chr1

16096904

+
intron-intronENST00000471538ENST00000509138SPENchr1

16174645

+FBLIM1chr1

16096904

+
Frame-shiftENST00000375759ENST00000375771SPENchr1

16203173

+FBLIM1chr1

16101113

+
Frame-shiftENST00000375759ENST00000375766SPENchr1

16203173

+FBLIM1chr1

16101113

+
Frame-shiftENST00000375759ENST00000400773SPENchr1

16203173

+FBLIM1chr1

16101113

+
In-frameENST00000375759ENST00000441801SPENchr1

16203173

+FBLIM1chr1

16101113

+
Frame-shiftENST00000375759ENST00000332305SPENchr1

16203173

+FBLIM1chr1

16101113

+
5CDS-intronENST00000375759ENST00000509138SPENchr1

16203173

+FBLIM1chr1

16101113

+
3UTR-3CDSENST00000471538ENST00000375771SPENchr1

16203173

+FBLIM1chr1

16101113

+
3UTR-3CDSENST00000471538ENST00000375766SPENchr1

16203173

+FBLIM1chr1

16101113

+
3UTR-3CDSENST00000471538ENST00000400773SPENchr1

16203173

+FBLIM1chr1

16101113

+
3UTR-3CDSENST00000471538ENST00000441801SPENchr1

16203173

+FBLIM1chr1

16101113

+
3UTR-3CDSENST00000471538ENST00000332305SPENchr1

16203173

+FBLIM1chr1

16101113

+
3UTR-intronENST00000471538ENST00000509138SPENchr1

16203173

+FBLIM1chr1

16101113

+

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FusionProtFeatures for SPEN_FBLIM1


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

Q96T58

FBLIM1

Q8WUP2

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}. Serves as an anchoring site for cell-ECM adhesionproteins and filamin-containing actin filaments. Is implicated incell shape modulation (spreading) and motility. May participate inthe regulation of filamin-mediated cross-linking and stabilizationof actin filaments. May also regulate the assembly of filamin-containing signaling complexes that control actin assembly.Promotes dissociation of FLNA from ITGB3 and ITGB7. Promotesactivation of integrins and regulates integrin-mediated cell-celladhesion. {ECO:0000269|PubMed:12496242,ECO:0000269|PubMed:12679033, ECO:0000269|PubMed:18829455,ECO:0000269|PubMed:19074766}.

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_FBLIM1


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_SPEN_ENST00000375759_chr1_16203173_+_FBLIM1_ENST00000441801_chr1_16101113_+_431aa
MVRETRHLWVGNLPENVREEKIIEHFKRYGRVESVKILPKRGSEGGVAAFVDFVDIKSAQKAHNSVNKMGDRDLRTDYNEPGTIPSAARG
LDDTVSIASRSREVSGFRGGGGGPAYGPPPSLHAREGRYERRLDGASDNRERAYEHSAYGHHERGTGGFDRTRHYDQDYYRDPRERTLQH
GLYYASRSRSPNRFDAHDPRYEPRAREQFTLPSVVHRDIYRDDITREVRGRRPERNYQHSRSRSPHSSQSRNQSPQRLASQASRPTRSPS
GSGSRSRSSSSDSISSSSSTSSDRTHWRGAASVARWSGTTSSGPWARPSTPPASRVXPAPGALGMRALPWAARTRCTAWTTSTGTRRVCA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SPEN_ENST00000375759_chr1_16203173_+_FBLIM1_ENST00000441801_chr1_16101113_+_1295nt
ATGGTCCGGGAAACCAGGCATCTCTGGGTGGGCAACTTACCCGAGAACGTGCGGGAAGAGAAGATCATCGAGCATTTCAAACGATATGGC
CGCGTGGAAAGTGTCAAAATTCTTCCCAAGAGGGGATCTGAAGGAGGAGTGGCTGCCTTTGTGGATTTTGTGGACATCAAAAGTGCACAG
AAAGCTCACAACTCGGTCAACAAAATGGGTGACAGAGACCTACGCACGGATTATAATGAACCAGGCACCATCCCGAGTGCTGCTCGGGGA
TTGGATGATACAGTTTCCATAGCATCTCGTAGTAGAGAGGTTTCTGGGTTCAGAGGAGGTGGTGGAGGGCCTGCTTATGGTCCCCCACCG
TCACTTCATGCACGAGAAGGACGTTATGAGCGGAGACTTGATGGGGCTTCAGATAACAGGGAGCGTGCTTATGAACATAGTGCCTATGGA
CACCATGAACGGGGGACGGGAGGATTTGATCGGACAAGACATTACGATCAGGATTACTATAGAGATCCTCGAGAGCGGACTTTACAACAT
GGGCTCTATTACGCTTCTCGGAGTCGAAGTCCAAATCGCTTTGATGCTCATGACCCCCGATATGAACCTAGGGCTCGCGAGCAGTTTACA
CTGCCCAGTGTGGTACACAGGGATATCTACAGGGATGATATTACCCGGGAGGTACGAGGCAGAAGGCCAGAGCGGAATTACCAGCACAGC
AGGAGTCGGTCACCACATTCATCCCAGTCTAGAAATCAGTCTCCTCAGAGACTGGCTAGCCAAGCATCTAGACCCACAAGGTCCCCTAGC
GGCAGCGGCTCTAGAAGTAGATCCTCCAGTAGTGATTCAATCAGCAGCAGCAGTAGTACCAGCAGTGACAGGACACACTGGAGAGGTGCG
GCAAGTGTGGCGAGGTGGTCCGGGACCACATCATCAGGGCCCTGGGCCAGGCCTTCCACCCCTCCTGCTTCACGTGTGTGACCTGCGCCC
GGTGCATTGGGGATGAGAGCTTTGCCCTGGGCAGCCAGAACGAGGTGTACTGCCTGGACGACTTCTACAGGTACGAGAAGGGTTTGTGCA
CTGGGTGGGGTGCAGGGACAGGGCGAGACCCAAGCAGGGTGAAGGAGCTGAGCTTGAGTCCTGGGTGCTGGGCCAGAGTTTCCTGTCTAC
TGGTTTATTATAAAGAATATTACAGGGCTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGA


* Fusion transcript sequences (Full-length transcript).
>In-frame_SPEN_ENST00000375759_chr1_16203173_+_FBLIM1_ENST00000441801_chr1_16101113_+_1710nt
TGAGCTGCGAGGCCCGAGAGTCAGAACCTGGGGGAGAGGGATGGTCTCTGCACGGGGGGGAGCCGGAGGAGCCGCCGCCGCTGCCGACGC
CACCGCCGCAGCCGCCGCCGCCGCCGCCCCGGCACCCGCCTCCCGGCGCTGACGGTCTCGTACGAAGCCGGCGAGGGGGAGCCAGCAGCG
GCGGTCGCCGGCACGCCGCCCAGCATGGTCCGGGAAACCAGGCATCTCTGGGTGGGCAACTTACCCGAGAACGTGCGGGAAGAGAAGATC
ATCGAGCATTTCAAACGATATGGCCGCGTGGAAAGTGTCAAAATTCTTCCCAAGAGGGGATCTGAAGGAGGAGTGGCTGCCTTTGTGGAT
TTTGTGGACATCAAAAGTGCACAGAAAGCTCACAACTCGGTCAACAAAATGGGTGACAGAGACCTACGCACGGATTATAATGAACCAGGC
ACCATCCCGAGTGCTGCTCGGGGATTGGATGATACAGTTTCCATAGCATCTCGTAGTAGAGAGGTTTCTGGGTTCAGAGGAGGTGGTGGA
GGGCCTGCTTATGGTCCCCCACCGTCACTTCATGCACGAGAAGGACGTTATGAGCGGAGACTTGATGGGGCTTCAGATAACAGGGAGCGT
GCTTATGAACATAGTGCCTATGGACACCATGAACGGGGGACGGGAGGATTTGATCGGACAAGACATTACGATCAGGATTACTATAGAGAT
CCTCGAGAGCGGACTTTACAACATGGGCTCTATTACGCTTCTCGGAGTCGAAGTCCAAATCGCTTTGATGCTCATGACCCCCGATATGAA
CCTAGGGCTCGCGAGCAGTTTACACTGCCCAGTGTGGTACACAGGGATATCTACAGGGATGATATTACCCGGGAGGTACGAGGCAGAAGG
CCAGAGCGGAATTACCAGCACAGCAGGAGTCGGTCACCACATTCATCCCAGTCTAGAAATCAGTCTCCTCAGAGACTGGCTAGCCAAGCA
TCTAGACCCACAAGGTCCCCTAGCGGCAGCGGCTCTAGAAGTAGATCCTCCAGTAGTGATTCAATCAGCAGCAGCAGTAGTACCAGCAGT
GACAGGACACACTGGAGAGGTGCGGCAAGTGTGGCGAGGTGGTCCGGGACCACATCATCAGGGCCCTGGGCCAGGCCTTCCACCCCTCCT
GCTTCACGTGTGTGACCTGCGCCCGGTGCATTGGGGATGAGAGCTTTGCCCTGGGCAGCCAGAACGAGGTGTACTGCCTGGACGACTTCT
ACAGGTACGAGAAGGGTTTGTGCACTGGGTGGGGTGCAGGGACAGGGCGAGACCCAAGCAGGGTGAAGGAGCTGAGCTTGAGTCCTGGGT
GCTGGGCCAGAGTTTCCTGTCTACTGGTTTATTATAAAGAATATTACAGGGCTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAC
AAAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCA
GAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA


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FusionGenePPI for SPEN_FBLIM1


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
SPENNCOR2, PPARD, HDAC1, SRA1, RBPJ, NCOR1, CTBP1, RBBP8, RUNX1T1, RUNX1, SIRT7, UBE2E2, UBE2L6, ATXN1, NOTCH2, BPGM, TTN, PRDX3, PCBP3, NUP54, PIR, SCYL2, SOX2, HRSP12, SERTAD1, CUL7, OBSL1, EED, BMI1, CCNC, WRAP73, MED23, SRPK2, CLK1, DYNLT1, BCLAF1, FERMT3, USP37, DPPA4, EGFR, TRIML2, CAMKV, PIP4K2A, NR3C1FBLIM1FERMT2, FLNA, FLNB, HIST1H3A, CUTA, LMO3, XPO1, TRIM15, FAN1, TMCC2, EVL


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_FBLIM1


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_FBLIM1


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