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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: 3760

FusionGeneSummary for B9D1_SPECC1

check button Fusion gene summary
Fusion gene informationFusion gene name: B9D1_SPECC1
Fusion gene ID: 3760
HgeneTgene
Gene symbol

B9D1

SPECC1

Gene ID

27077

92521

Gene nameB9 domain containing 1sperm antigen with calponin homology and coiled-coil domains 1
SynonymsB9|EPPB9|JBTS27|MKS9|MKSR1CYTSB|HCMOGT-1|HCMOGT1|NSP
Cytomap

17p11.2

17p11.2

Type of geneprotein-codingprotein-coding
DescriptionB9 domain-containing protein 1B9 protein domain 1MKS1-related protein 1endothelial precursor protein B9cytospin-BNSP5cytokinesis and spindle organization Bnuclear structure protein 5sperm antigen HCMOGT-1sperm antigen with calponin-like and coiled coil domains 1structure protein NSP5a3astructure protein NSP5a3bstructure protein NSP5b3astructure pr
Modification date2018052220180523
UniProtAcc

Q9UPM9

Q5M775

Ensembl transtripts involved in fusion geneENST00000575403, ENST00000477478, 
ENST00000468679, ENST00000461069, 
ENST00000395615, ENST00000261499, 
ENST00000395616, ENST00000268841, 
ENST00000472876, ENST00000395527, 
ENST00000395529, ENST00000261503, 
ENST00000395530, ENST00000536879, 
ENST00000395522, ENST00000395525, 
ENST00000584527, 
Fusion gene scores* DoF score3 X 3 X 3=276 X 4 X 5=120
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: B9D1 [Title/Abstract] AND SPECC1 [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
TCGALDLUADTCGA-91-6847-01AB9D1chr17

19247103

-SPECC1chr17

19960990

+
* 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-intronENST00000575403ENST00000472876B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000575403ENST00000395527B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000575403ENST00000395529B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000575403ENST00000261503B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000575403ENST00000395530B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000575403ENST00000536879B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000575403ENST00000395522B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000575403ENST00000395525B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000575403ENST00000584527B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000477478ENST00000472876B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000477478ENST00000395527B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000477478ENST00000395529B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000477478ENST00000261503B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000477478ENST00000395530B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000477478ENST00000536879B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000477478ENST00000395522B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000477478ENST00000395525B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000477478ENST00000584527B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000468679ENST00000472876B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000468679ENST00000395527B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000468679ENST00000395529B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000468679ENST00000261503B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000468679ENST00000395530B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000468679ENST00000536879B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000468679ENST00000395522B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000468679ENST00000395525B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000468679ENST00000584527B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000461069ENST00000472876B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000461069ENST00000395527B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000461069ENST00000395529B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000461069ENST00000261503B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000461069ENST00000395530B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000461069ENST00000536879B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000461069ENST00000395522B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000461069ENST00000395525B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000461069ENST00000584527B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395615ENST00000472876B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395615ENST00000395527B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395615ENST00000395529B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395615ENST00000261503B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395615ENST00000395530B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395615ENST00000536879B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395615ENST00000395522B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395615ENST00000395525B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395615ENST00000584527B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000261499ENST00000472876B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000261499ENST00000395527B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000261499ENST00000395529B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000261499ENST00000261503B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000261499ENST00000395530B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000261499ENST00000536879B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000261499ENST00000395522B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000261499ENST00000395525B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000261499ENST00000584527B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395616ENST00000472876B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395616ENST00000395527B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395616ENST00000395529B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395616ENST00000261503B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395616ENST00000395530B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395616ENST00000536879B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395616ENST00000395522B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395616ENST00000395525B9D1chr17

19247103

-SPECC1chr17

19960990

+
5CDS-intronENST00000395616ENST00000584527B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000268841ENST00000472876B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000268841ENST00000395527B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000268841ENST00000395529B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000268841ENST00000261503B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000268841ENST00000395530B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000268841ENST00000536879B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000268841ENST00000395522B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000268841ENST00000395525B9D1chr17

19247103

-SPECC1chr17

19960990

+
intron-intronENST00000268841ENST00000584527B9D1chr17

19247103

-SPECC1chr17

19960990

+

Top

FusionProtFeatures for B9D1_SPECC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
B9D1

Q9UPM9

SPECC1

Q5M775

Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes. Required for ciliogenesis andsonic hedgehog/SHH signaling (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

- 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 B9D1_SPECC1


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 B9D1_SPECC1


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
B9D1LIG4, EXOSC10, TMEM231, IFI30, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, CCT8, COQ6, MTR, PDCL3, PFDN4, TCP1, TXNDC9, INVS, RUVBL1, B9D2, MKS1, CC2D2A, TMEM17, POSTNSPECC1DAXX, TRAF2, PAN2, HECW2, NXF1, CCDC8, RNF2, SLC25A41, CAPZA2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, RAB5A, IQGAP1, ACTR2, ATP6AP2, SYNPO, MAPRE1, LIMA1, ANLN, MYO5C, MYO19, MYO18A, PCGF1, DPPA4, NANOG, POU5F1, CDH1, RAB11FIP4, PCDHGB1, PCDHB11


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 B9D1_SPECC1


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 B9D1_SPECC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneB9D1C0023893Liver Cirrhosis, Experimental1CTD_human