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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: 13021

FusionGeneSummary for FBLN1_SMC1B

check button Fusion gene summary
Fusion gene informationFusion gene name: FBLN1_SMC1B
Fusion gene ID: 13021
HgeneTgene
Gene symbol

FBLN1

SMC1B

Gene ID

2192

27127

Gene namefibulin 1structural maintenance of chromosomes 1B
SynonymsFBLN|FIBL1SMC1BETA|SMC1L2
Cytomap

22q13.31

22q13.31

Type of geneprotein-codingprotein-coding
Descriptionfibulin-1structural maintenance of chromosomes protein 1BSMC protein 1BSMC1 (structural maintenance of chromosomes 1, yeast)-like 1SMC1 structural maintenance of chromosomes 1-like 2mitosis-specific chromosome segregation protein like protein beta
Modification date2018052220180519
UniProtAcc

P23142

Q8NDV3

Ensembl transtripts involved in fusion geneENST00000348697, ENST00000402984, 
ENST00000262722, ENST00000327858, 
ENST00000442170, ENST00000340923, 
ENST00000476366, 		ENST00000357450, 
ENST00000404354, 
Fusion gene scores* DoF score8 X 9 X 5=3604 X 3 X 4=48
# samples 104
** MAII scorelog2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBLN1 [Title/Abstract] AND SMC1B [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not 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
HgeneFBLN1

GO:0001933

negative regulation of protein phosphorylation

11792823

HgeneFBLN1

GO:0007162

negative regulation of cell adhesion

11792823

HgeneFBLN1

GO:0007229

integrin-mediated signaling pathway

11792823

HgeneFBLN1

GO:0070373

negative regulation of ERK1 and ERK2 cascade

11792823

HgeneFBLN1

GO:0072378

blood coagulation, fibrin clot formation

7642629

HgeneFBLN1

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

11792823

HgeneFBLN1

GO:2000146

negative regulation of cell motility

11792823

HgeneFBLN1

GO:2000647

negative regulation of stem cell proliferation

11238726


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-DK-A6B2-01AFBLN1chr22

45898944

+SMC1Bchr22

45804779

-
* 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-frameENST00000348697ENST00000357450FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000348697ENST00000404354FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000402984ENST00000357450FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000402984ENST00000404354FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000262722ENST00000357450FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000262722ENST00000404354FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000327858ENST00000357450FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000327858ENST00000404354FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000442170ENST00000357450FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000442170ENST00000404354FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000340923ENST00000357450FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
In-frameENST00000340923ENST00000404354FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
intron-3CDSENST00000476366ENST00000357450FBLN1chr22

45898944

+SMC1Bchr22

45804779

-
intron-3CDSENST00000476366ENST00000404354FBLN1chr22

45898944

+SMC1Bchr22

45804779

-

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FusionProtFeatures for FBLN1_SMC1B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBLN1

P23142

SMC1B

Q8NDV3

Meiosis-specific component of cohesin complex. Requiredfor the maintenance of meiotic cohesion, but not, or only to aminor extent, for its establishment. Contributes to axial element(AE) formation and the organization of chromatin loops along theAE. Plays a key role in synapsis, recombination and chromosomemovements. The cohesin complex is required for the cohesion ofsister chromatids after DNA replication. The cohesin complexapparently forms a large proteinaceous ring within which sisterchromatids can be trapped. At anaphase, the complex is cleaved anddissociates from chromatin, allowing sister chromatids tosegregate. The meiosis-specific cohesin complex probably replacesmitosis specific cohesin complex when it dissociates fromchromatin during prophase I (By similarity). {ECO:0000250}.

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
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000357450-0251022_1049361236Coiled coilOntology_term=ECO:0000255
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000357450-025156_490361236Coiled coilOntology_term=ECO:0000255
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000357450-025666_934361236Coiled coilOntology_term=ECO:0000255
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000357450-025970_994361236Coiled coilOntology_term=ECO:0000255
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000404354-0231022_1049361162Coiled coilOntology_term=ECO:0000255
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000404354-023156_490361162Coiled coilOntology_term=ECO:0000255
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000404354-023666_934361162Coiled coilOntology_term=ECO:0000255
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000404354-023970_994361162Coiled coilOntology_term=ECO:0000255
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000357450-0251124_1159361236Compositional biasNote=Ala/Asp-rich (DA-box)
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000404354-0231124_1159361162Compositional biasNote=Ala/Asp-rich (DA-box)
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000357450-025491_665361236RegionNote=Flexible hinge
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000404354-023491_665361162RegionNote=Flexible hinge

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115112_14426684DomainAnaphylatoxin-like 3
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115176_21526684DomainEGF-like 1
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115216_26126684DomainEGF-like 2%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115262_30726684DomainEGF-like 3%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115308_35526684DomainEGF-like 4%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115356_39826684DomainEGF-like 5%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+11536_7626684DomainAnaphylatoxin-like 1
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115399_44026684DomainEGF-like 6%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115441_48026684DomainEGF-like 7%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115481_52426684DomainEGF-like 8%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115525_57826684DomainEGF-like 9%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+11577_11126684DomainAnaphylatoxin-like 2
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117112_14426704DomainAnaphylatoxin-like 3
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117176_21526704DomainEGF-like 1
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117216_26126704DomainEGF-like 2%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117262_30726704DomainEGF-like 3%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117308_35526704DomainEGF-like 4%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117356_39826704DomainEGF-like 5%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+11736_7626704DomainAnaphylatoxin-like 1
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117399_44026704DomainEGF-like 6%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117441_48026704DomainEGF-like 7%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117481_52426704DomainEGF-like 8%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117525_57826704DomainEGF-like 9%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+11777_11126704DomainAnaphylatoxin-like 2
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115112_14426567DomainAnaphylatoxin-like 3
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115176_21526567DomainEGF-like 1
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115216_26126567DomainEGF-like 2%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115262_30726567DomainEGF-like 3%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115308_35526567DomainEGF-like 4%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115356_39826567DomainEGF-like 5%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+11536_7626567DomainAnaphylatoxin-like 1
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115399_44026567DomainEGF-like 6%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115441_48026567DomainEGF-like 7%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115481_52426567DomainEGF-like 8%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115525_57826567DomainEGF-like 9%3B calcium-binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+11577_11126567DomainAnaphylatoxin-like 2
HgeneFBLN1chr22:45898944chr22:45804779ENST00000262722+115356_44026684RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000327858+117356_44026704RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding
HgeneFBLN1chr22:45898944chr22:45804779ENST00000340923+115356_44026567RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000357450-02532_39361236Nucleotide bindingATP
TgeneSMC1Bchr22:45898944chr22:45804779ENST00000404354-02332_39361162Nucleotide bindingATP


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FusionGeneSequence for FBLN1_SMC1B


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 FBLN1_SMC1B


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
FBLN1MPG, APP, NID1, ELN, FBLN1, FGB, FN1, NOV, CTGF, CACNA1A, ATN1, GFI1B, SKIL, SMAD4, TCF7L2, ADAMTSL4, TAF9, SMAD3, NOTCH3, PLSCR1, TDGF1, LTBP4, TANK, YWHAQ, NEDD1, APOA1, BHLHE40, ADAMTSL2, EDC4, DKK1, LGALS9, FCN1, PLSCR4, SFRP4, KCTD9, PTPRK, PSG1, PSG3, WNT4, ZFP41, IFI30, NLGN3, DDIAS, OCLN, DEFA1, COLQ, WNT7A, IRF9, PAK7, EFEMP1, ZNF517, NELL1, FAM19A3, PLA2G10, CCDC89, TYW3, AGRP, TRIM25, MCPH1SMC1BCDCA5, RAD21, STAG1, STAG2, SMC3, REC8


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 FBLN1_SMC1B


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 FBLN1_SMC1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBLN1C0014175Endometriosis1CTD_human
HgeneFBLN1C0033578Prostatic Neoplasms1CTD_human
TgeneSMC1BC0005695Bladder Neoplasm1CTD_human