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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: 33152

FusionGeneSummary for SEMA4B_CIB2

check button Fusion gene summary
Fusion gene informationFusion gene name: SEMA4B_CIB2
Fusion gene ID: 33152
HgeneTgene
Gene symbol

SEMA4B

CIB2

Gene ID

10509

10518

Gene namesemaphorin 4Bcalcium and integrin binding family member 2
SynonymsSEMAC|SemCDFNB48|KIP2|USH1J
Cytomap

15q26.1

15q25.1

Type of geneprotein-codingprotein-coding
Descriptionsemaphorin-4Bsema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4Bsema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4Bcalcium and integrin-binding family member 2DNA-dependent protein kinase catalytic subunit-interacting protein 2
Modification date2018052320180519
UniProtAcc

Q9NPR2

O75838

Ensembl transtripts involved in fusion geneENST00000379122, ENST00000332496, 
ENST00000560263, ENST00000411539, 
ENST00000258930, ENST00000539011, 
ENST00000557846, ENST00000560618, 
Fusion gene scores* DoF score7 X 6 X 6=2525 X 2 X 4=40
# samples 115
** MAII scorelog2(11/252*10)=-1.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SEMA4B [Title/Abstract] AND CIB2 [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
TgeneCIB2

GO:0007204

positive regulation of cytosolic calcium ion concentration

23023331|26173970

TgeneCIB2

GO:0071318

cellular response to ATP

23023331|26173970


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
TCGARVSTADTCGA-VQ-AA6D-01ASEMA4Bchr15

90728313

+CIB2chr15

78403618

-
* 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
5UTR-3CDSENST00000379122ENST00000258930SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
5UTR-5UTRENST00000379122ENST00000539011SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
5UTR-intronENST00000379122ENST00000557846SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
5UTR-5UTRENST00000379122ENST00000560618SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
5UTR-3CDSENST00000332496ENST00000258930SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
5UTR-5UTRENST00000332496ENST00000539011SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
5UTR-intronENST00000332496ENST00000557846SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
5UTR-5UTRENST00000332496ENST00000560618SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
intron-3CDSENST00000560263ENST00000258930SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
intron-5UTRENST00000560263ENST00000539011SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
intron-intronENST00000560263ENST00000557846SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
intron-5UTRENST00000560263ENST00000560618SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
intron-3CDSENST00000411539ENST00000258930SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
intron-5UTRENST00000411539ENST00000539011SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
intron-intronENST00000411539ENST00000557846SEMA4Bchr15

90728313

+CIB2chr15

78403618

-
intron-5UTRENST00000411539ENST00000560618SEMA4Bchr15

90728313

+CIB2chr15

78403618

-

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FusionProtFeatures for SEMA4B_CIB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEMA4B

Q9NPR2

CIB2

O75838

Inhibits axonal extension by providing local signals tospecify territories inaccessible for growing axons. {ECO:0000250}. Calcium-binding protein critical for properphotoreceptor cell maintenance and function. Plays a role inintracellular calcium homeostasis by decreasing ATP-inducedcalcium release (PubMed:23023331, PubMed:26173970,PubMed:26426422). May be involved in the mechanotransductionprocess (By similarity). {ECO:0000250,ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:26173970,ECO:0000269|PubMed:26426422}.

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 SEMA4B_CIB2


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 SEMA4B_CIB2


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
SEMA4BDCBLD2, AENCIB2EMC2


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 SEMA4B_CIB2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCIB2O75838DB11093Calcium CitrateCalcium and integrin-binding family member 2small moleculeapproved
TgeneCIB2O75838DB11348Calcium PhosphateCalcium and integrin-binding family member 2small moleculeapproved

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RelatedDiseases for SEMA4B_CIB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCIB2C1836199DEAFNESS, AUTOSOMAL RECESSIVE 483UNIPROT
TgeneCIB2C3553944USHER SYNDROME, TYPE IJ1CTD_human;UNIPROT