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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: 4154

FusionGeneSummary for BICC1_SMTN

check button Fusion gene summary
Fusion gene informationFusion gene name: BICC1_SMTN
Fusion gene ID: 4154
HgeneTgene
Gene symbol

BICC1

SMTN

Gene ID

80114

6525

Gene nameBicC family RNA binding protein 1smoothelin
SynonymsBICC|CYSRD-
Cytomap

10q21.1

22q12.2

Type of geneprotein-codingprotein-coding
Descriptionprotein bicaudal C homolog 1FGFR2-BICC1 fusion kinase proteinbicaudal C homolog 1smoothelin
Modification date2018051920180523
UniProtAcc

Q9H694

P53814

Ensembl transtripts involved in fusion geneENST00000373886, ENST00000263103, 
ENST00000476684, 
ENST00000475548, 
ENST00000358743, ENST00000347557, 
ENST00000333137, ENST00000404574, 
Fusion gene scores* DoF score8 X 8 X 5=32010 X 10 X 8=800
# samples 812
** MAII scorelog2(8/320*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/800*10)=-2.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BICC1 [Title/Abstract] AND SMTN [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
HgeneBICC1

GO:0090090

negative regulation of canonical Wnt signaling pathway

21922595


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
ChiTaRS3.1AU099326BICC1chr10

60589093

+SMTNchr22

31477306

+
* 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-3CDSENST00000373886ENST00000475548BICC1chr10

60589093

+SMTNchr22

31477306

+
3UTR-3CDSENST00000373886ENST00000358743BICC1chr10

60589093

+SMTNchr22

31477306

+
3UTR-3CDSENST00000373886ENST00000347557BICC1chr10

60589093

+SMTNchr22

31477306

+
3UTR-3CDSENST00000373886ENST00000333137BICC1chr10

60589093

+SMTNchr22

31477306

+
3UTR-intronENST00000373886ENST00000404574BICC1chr10

60589093

+SMTNchr22

31477306

+
intron-3CDSENST00000263103ENST00000475548BICC1chr10

60589093

+SMTNchr22

31477306

+
intron-3CDSENST00000263103ENST00000358743BICC1chr10

60589093

+SMTNchr22

31477306

+
intron-3CDSENST00000263103ENST00000347557BICC1chr10

60589093

+SMTNchr22

31477306

+
intron-3CDSENST00000263103ENST00000333137BICC1chr10

60589093

+SMTNchr22

31477306

+
intron-intronENST00000263103ENST00000404574BICC1chr10

60589093

+SMTNchr22

31477306

+
intron-3CDSENST00000476684ENST00000475548BICC1chr10

60589093

+SMTNchr22

31477306

+
intron-3CDSENST00000476684ENST00000358743BICC1chr10

60589093

+SMTNchr22

31477306

+
intron-3CDSENST00000476684ENST00000347557BICC1chr10

60589093

+SMTNchr22

31477306

+
intron-3CDSENST00000476684ENST00000333137BICC1chr10

60589093

+SMTNchr22

31477306

+
intron-intronENST00000476684ENST00000404574BICC1chr10

60589093

+SMTNchr22

31477306

+

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FusionProtFeatures for BICC1_SMTN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BICC1

Q9H694

SMTN

P53814

Putative RNA-binding protein. Acts as a negativeregulator of Wnt signaling. May be involved in regulating geneexpression during embryonic development.{ECO:0000269|PubMed:21922595}.

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 BICC1_SMTN


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 BICC1_SMTN


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 BICC1_SMTN


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 BICC1_SMTN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBICC1C0011570Mental Depression2PSYGENET
HgeneBICC1C0011581Depressive disorder2PSYGENET
HgeneBICC1C3275898RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO1UNIPROT