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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: 35226

FusionGeneSummary for SNTB2_CIRH1A

check button Fusion gene summary
Fusion gene informationFusion gene name: SNTB2_CIRH1A
Fusion gene ID: 35226
HgeneTgene
Gene symbol

SNTB2

CIRH1A

Gene ID

6645

84916

Gene namesyntrophin beta 2UTP4, small subunit processome component
SynonymsD16S2531E|EST25263|SNT2B2|SNT3|SNTLCIRH1A|CIRHIN|NAIC|TEX292
Cytomap

16q22.1

16q22.1

Type of geneprotein-codingprotein-coding
Descriptionbeta-2-syntrophin59 kDa dystrophin-associated protein A1 basic component 2dystrophin-associated protein A1, 59kD, basic component 2syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)syntrophin-3U3 small nucleolar RNA-associated protein 4 homologUTP4 small subunit (SSU) processome componentUTP4, small subunit (SSU) processome component, homologcirrhosis, autosomal recessive 1A (cirhin)testis expressed gene 292
Modification date2018052220180523
UniProtAcc

Q13425

Ensembl transtripts involved in fusion geneENST00000336278, ENST00000528525, 
ENST00000314423, ENST00000352319, 
ENST00000563094, ENST00000569615, 
Fusion gene scores* DoF score6 X 7 X 6=2522 X 4 X 3=24
# samples 84
** MAII scorelog2(8/252*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SNTB2 [Title/Abstract] AND CIRH1A [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
TgeneCIRH1A

GO:0006355

regulation of transcription, DNA-templated

19732766


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
TCGARVKIRCTCGA-BP-4761-01ASNTB2chr16

69221649

+CIRH1Achr16

69196986

+
TCGARVLUADTCGA-35-4122-01ASNTB2chr16

69221649

+CIRH1Achr16

69177081

+
TCGARVLUSCTCGA-37-A5EL-01ASNTB2chr16

69221636

+CIRH1Achr16

69187487

+
* 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
Frame-shiftENST00000336278ENST00000314423SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
Frame-shiftENST00000336278ENST00000352319SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
Frame-shiftENST00000336278ENST00000563094SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
5CDS-intronENST00000336278ENST00000569615SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
3UTR-3CDSENST00000528525ENST00000314423SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
3UTR-3CDSENST00000528525ENST00000352319SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
3UTR-3CDSENST00000528525ENST00000563094SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
3UTR-intronENST00000528525ENST00000569615SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
In-frameENST00000336278ENST00000314423SNTB2chr16

69221649

+CIRH1Achr16

69177081

+
In-frameENST00000336278ENST00000352319SNTB2chr16

69221649

+CIRH1Achr16

69177081

+
In-frameENST00000336278ENST00000563094SNTB2chr16

69221649

+CIRH1Achr16

69177081

+
5CDS-3UTRENST00000336278ENST00000569615SNTB2chr16

69221649

+CIRH1Achr16

69177081

+
3UTR-3CDSENST00000528525ENST00000314423SNTB2chr16

69221649

+CIRH1Achr16

69177081

+
3UTR-3CDSENST00000528525ENST00000352319SNTB2chr16

69221649

+CIRH1Achr16

69177081

+
3UTR-3CDSENST00000528525ENST00000563094SNTB2chr16

69221649

+CIRH1Achr16

69177081

+
3UTR-3UTRENST00000528525ENST00000569615SNTB2chr16

69221649

+CIRH1Achr16

69177081

+
Frame-shiftENST00000336278ENST00000314423SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
Frame-shiftENST00000336278ENST00000352319SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
Frame-shiftENST00000336278ENST00000563094SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
5CDS-intronENST00000336278ENST00000569615SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
3UTR-3CDSENST00000528525ENST00000314423SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
3UTR-3CDSENST00000528525ENST00000352319SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
3UTR-3CDSENST00000528525ENST00000563094SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
3UTR-intronENST00000528525ENST00000569615SNTB2chr16

69221636

+CIRH1Achr16

69187487

+

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FusionProtFeatures for SNTB2_CIRH1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SNTB2

Q13425

CIRH1A

Adapter protein that binds to and probably organizes thesubcellular localization of a variety of membrane proteins. Maylink various receptors to the actin cytoskeleton and thedystrophin glycoprotein complex. May play a role in the regulationof secretory granules via its interaction with PTPRN. 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
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278+1754_57193541Compositional biasNote=Poly-Ala
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278+1766_69193541Compositional biasNote=Poly-Ala
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417182_226175687RepeatNote=WD 5
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417227_275175687RepeatNote=WD 6
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417276_317175687RepeatNote=WD 7
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417318_377175687RepeatNote=WD 8
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417378_427175687RepeatNote=WD 9
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417428_475175687RepeatNote=WD 10
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417476_516175687RepeatNote=WD 11
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417517_566175687RepeatNote=WD 12
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417567_627175687RepeatNote=WD 13
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417628_666175687RepeatNote=WD 14
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414182_226175572RepeatNote=WD 5
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414227_275175572RepeatNote=WD 6
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414276_317175572RepeatNote=WD 7
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414318_377175572RepeatNote=WD 8
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414378_427175572RepeatNote=WD 9
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414428_475175572RepeatNote=WD 10
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414476_516175572RepeatNote=WD 11
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414517_566175572RepeatNote=WD 12
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414567_627175572RepeatNote=WD 13
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414628_666175572RepeatNote=WD 14
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415182_226175626RepeatNote=WD 5
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415227_275175626RepeatNote=WD 6
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415276_317175626RepeatNote=WD 7
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415318_377175626RepeatNote=WD 8
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415378_427175626RepeatNote=WD 9
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415428_475175626RepeatNote=WD 10
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415476_516175626RepeatNote=WD 11
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415517_566175626RepeatNote=WD 12
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415567_627175626RepeatNote=WD 13
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415628_666175626RepeatNote=WD 14

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278+17115_198193541DomainPDZ
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278+17163_300193541DomainPH 1
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278+17325_437193541DomainPH 2
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278+17484_540193541DomainNote=SU
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278+17518_540193541RegionCalmodulin-binding
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+417136_181175687RepeatNote=WD 4
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+41751_92175687RepeatNote=WD 2
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+4177_50175687RepeatNote=WD 1
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423+41793_135175687RepeatNote=WD 3
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+414136_181175572RepeatNote=WD 4
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+41451_92175572RepeatNote=WD 2
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+4147_50175572RepeatNote=WD 1
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319+41493_135175572RepeatNote=WD 3
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+415136_181175626RepeatNote=WD 4
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+41551_92175626RepeatNote=WD 2
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+4157_50175626RepeatNote=WD 1
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094+41593_135175626RepeatNote=WD 3


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FusionGeneSequence for SNTB2_CIRH1A


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 SNTB2_CIRH1A


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
SNTB2ERBB4, KCNJ12, DMD, UTRN, DGKZ, MAST2, MAST1, SCN5A, PTPRN, ABCA1, MARK2, ELAVL1, UBC, BAI1, ADRA1D, SAV1, CDKN1A, CASK, LURAP1L, DTNBP1, SPZ1, LIN7A, PTEN, XPO1, GOLT1B, TENC1, TNS1, TNS3, SNTG2, NDEL1, RHPN1, HMG20A, CPNE5, CFAP36, COG6, PTRF, FCGR1A, G3BP1CIRH1ASIRT7, ISG15, PRNP, APP, UTP15, GLTSCR2, HDAC11, MOV10, BRCA1, OBSL1, RNF2, FBL, RBM4B, VASP, GOLGA4, THBS3, CNRIP1, WDR43, IFI16, XPO1, AK1, FOS, KIF22, VPS26A, HDAC6, NOP56, CERK, NOL11, WDR75, NECAB1, NOL7, ANKRD28, HAVCR2, TRIM25


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 SNTB2_CIRH1A


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 SNTB2_CIRH1A


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