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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: 4619

FusionGeneSummary for C11orf30_BBS9

check button Fusion gene summary
Fusion gene informationFusion gene name: C11orf30_BBS9
Fusion gene ID: 4619
HgeneTgene
Gene symbol

C11orf30

BBS9

Gene ID

56946

27241

Gene nameEMSY, BRCA2 interacting transcriptional repressorBardet-Biedl syndrome 9
SynonymsC11orf30|GL002B1|C18|D1|PTHB1
Cytomap

11q13.5

7p14.3

Type of geneprotein-codingprotein-coding
DescriptionBRCA2-interacting transcriptional repressor EMSYprotein EMSYprotein PTHB1PTH-responsive osteosarcoma B1 proteinbardet-Biedl syndrome 9 proteinparathyroid hormone-responsive B1 gene protein
Modification date2018051920180523
UniProtAcc

Q3SYG4

Ensembl transtripts involved in fusion geneENST00000533988, ENST00000524490, 
ENST00000334736, ENST00000343878, 
ENST00000525959, ENST00000533248, 
ENST00000525919, ENST00000524767, 
ENST00000525038, ENST00000529032, 
ENST00000242067, ENST00000355070, 
ENST00000350941, ENST00000354265, 
ENST00000396127, ENST00000425508, 
ENST00000482941, 
Fusion gene scores* DoF score5 X 5 X 3=754 X 4 X 4=64
# samples 64
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C11orf30 [Title/Abstract] AND BBS9 [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

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
TCGARVBRCATCGA-A8-A091-01AC11orf30chr11

76207513

+BBS9chr7

33195250

+
* 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
intron-3CDSENST00000533988ENST00000242067C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000533988ENST00000355070C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000533988ENST00000350941C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000533988ENST00000354265C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000533988ENST00000396127C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000533988ENST00000425508C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-intronENST00000533988ENST00000482941C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000524490ENST00000242067C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000524490ENST00000355070C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000524490ENST00000350941C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000524490ENST00000354265C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000524490ENST00000396127C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000524490ENST00000425508C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-intronENST00000524490ENST00000482941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000334736ENST00000242067C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000334736ENST00000355070C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000334736ENST00000350941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000334736ENST00000354265C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000334736ENST00000396127C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000334736ENST00000425508C11orf30chr11

76207513

+BBS9chr7

33195250

+
5CDS-intronENST00000334736ENST00000482941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000343878ENST00000242067C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000343878ENST00000355070C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000343878ENST00000350941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000343878ENST00000354265C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000343878ENST00000396127C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000343878ENST00000425508C11orf30chr11

76207513

+BBS9chr7

33195250

+
5CDS-intronENST00000343878ENST00000482941C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000525959ENST00000242067C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000525959ENST00000355070C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000525959ENST00000350941C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000525959ENST00000354265C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000525959ENST00000396127C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-3CDSENST00000525959ENST00000425508C11orf30chr11

76207513

+BBS9chr7

33195250

+
intron-intronENST00000525959ENST00000482941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000533248ENST00000242067C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000533248ENST00000355070C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000533248ENST00000350941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000533248ENST00000354265C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000533248ENST00000396127C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000533248ENST00000425508C11orf30chr11

76207513

+BBS9chr7

33195250

+
5CDS-intronENST00000533248ENST00000482941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525919ENST00000242067C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525919ENST00000355070C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525919ENST00000350941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525919ENST00000354265C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525919ENST00000396127C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525919ENST00000425508C11orf30chr11

76207513

+BBS9chr7

33195250

+
5CDS-intronENST00000525919ENST00000482941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000524767ENST00000242067C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000524767ENST00000355070C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000524767ENST00000350941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000524767ENST00000354265C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000524767ENST00000396127C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000524767ENST00000425508C11orf30chr11

76207513

+BBS9chr7

33195250

+
5CDS-intronENST00000524767ENST00000482941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525038ENST00000242067C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525038ENST00000355070C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525038ENST00000350941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525038ENST00000354265C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525038ENST00000396127C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000525038ENST00000425508C11orf30chr11

76207513

+BBS9chr7

33195250

+
5CDS-intronENST00000525038ENST00000482941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000529032ENST00000242067C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000529032ENST00000355070C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000529032ENST00000350941C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000529032ENST00000354265C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000529032ENST00000396127C11orf30chr11

76207513

+BBS9chr7

33195250

+
Frame-shiftENST00000529032ENST00000425508C11orf30chr11

76207513

+BBS9chr7

33195250

+
5CDS-intronENST00000529032ENST00000482941C11orf30chr11

76207513

+BBS9chr7

33195250

+

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FusionProtFeatures for C11orf30_BBS9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C11orf30

BBS9

Q3SYG4

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 C11orf30_BBS9


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 C11orf30_BBS9


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
C11orf30BRCA2, CBX1, ZMYND11, ZNF335, ASH2L, CCAR2, RBBP5, TADA2A, HDAC1, HDAC2, DDIT3, ZNF646, MOV10, NXF1, HIST3H3, GATAD1, TMEM171, MORF4L1, DYNLT1, CSNK2A2, TRIM26, SIN3B, RTEL1, PHF12, KIF7, FOXJ2, FOXK2, ZNF281, KDM5A, ZNF131, MORF4L2, RBBP7, C11orf30, QSER1, CHD9, AKAP8, BCAS2, KRT18, SNRPA1, SON, NUP214, HNRNPM, NUP98, PHC3, NUP88, NCAPH2BBS9LZTFL1, L1TD1, TUBA1C, BBS1, BBS5, BBS7, NME3, TRIM44, SNX21, TTC8, BBS2, BBS4, CLUAP1


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 C11orf30_BBS9


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 C11orf30_BBS9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBBS9C0010278Craniosynostosis1CTD_human
TgeneBBS9C1859567BARDET-BIEDL SYNDROME 91UNIPROT