FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 32518

FusionGeneSummary for S100B_TCTN1

check button Fusion gene summary
Fusion gene informationFusion gene name: S100B_TCTN1
Fusion gene ID: 32518
HgeneTgene
Gene symbol

S100B

TCTN1

Gene ID

6285

79600

Gene nameS100 calcium binding protein Btectonic family member 1
SynonymsNEF|S100|S100-B|S100betaJBTS13|TECT1
Cytomap

21q22.3

12q24.11

Type of geneprotein-codingprotein-coding
Descriptionprotein S100-BS-100 calcium-binding protein, beta chainS-100 protein subunit betaS100 calcium-binding protein, beta (neural)tectonic-1
Modification date2018052220180519
UniProtAcc

P04271

Q2MV58

Ensembl transtripts involved in fusion geneENST00000367071, ENST00000291700, 
ENST00000397648, 
ENST00000550703, 
ENST00000551590, ENST00000397655, 
ENST00000471804, ENST00000377654, 
ENST00000397659, ENST00000551555, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 2=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: S100B [Title/Abstract] AND TCTN1 [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
HgeneS100B

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

15033494


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
TCGARVSKCMTCGA-GN-A263-01AS100Bchr21

48018875

-TCTN1chr12

111082513

+
* 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-intronENST00000367071ENST00000550703S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000367071ENST00000551590S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000367071ENST00000397655S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000367071ENST00000471804S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000367071ENST00000377654S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000367071ENST00000397659S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000367071ENST00000551555S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000291700ENST00000550703S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000291700ENST00000551590S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000291700ENST00000397655S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000291700ENST00000471804S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000291700ENST00000377654S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000291700ENST00000397659S100Bchr21

48018875

-TCTN1chr12

111082513

+
5CDS-intronENST00000291700ENST00000551555S100Bchr21

48018875

-TCTN1chr12

111082513

+
intron-intronENST00000397648ENST00000550703S100Bchr21

48018875

-TCTN1chr12

111082513

+
intron-intronENST00000397648ENST00000551590S100Bchr21

48018875

-TCTN1chr12

111082513

+
intron-intronENST00000397648ENST00000397655S100Bchr21

48018875

-TCTN1chr12

111082513

+
intron-intronENST00000397648ENST00000471804S100Bchr21

48018875

-TCTN1chr12

111082513

+
intron-intronENST00000397648ENST00000377654S100Bchr21

48018875

-TCTN1chr12

111082513

+
intron-intronENST00000397648ENST00000397659S100Bchr21

48018875

-TCTN1chr12

111082513

+
intron-intronENST00000397648ENST00000551555S100Bchr21

48018875

-TCTN1chr12

111082513

+

Top

FusionProtFeatures for S100B_TCTN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
S100B

P04271

TCTN1

Q2MV58

Weakly binds calcium but binds zinc very tightly-distinct binding sites with different affinities exist for bothions on each monomer. Physiological concentrations of potassiumion antagonize the binding of both divalent cations, especiallyaffecting high-affinity calcium-binding sites. Binds to andinitiates the activation of STK38 by releasing autoinhibitoryintramolecular interactions within the kinase. Interaction withAGER after myocardial infarction may play a role in myocyteapoptosis by activating ERK1/2 and p53/TP53 signaling. Couldassist ATAD3A cytoplasmic processing, preventing aggregation andfavoring mitochondrial localization. May mediate calcium-dependentregulation on many physiological processes by interacting withother proteins, such as TPR-containing proteins, and modulatingtheir activity. {ECO:0000269|PubMed:20351179,ECO:0000269|PubMed:22399290}. 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. Regulator of Hedgehog (Hh),required for both activation and inhibition of the Hh pathway inthe patterning of the neural tube. During neural tube development,it is required for formation of the most ventral cell types andfor full Hh pathway activation. Functions in Hh signaltransduction to fully activate the pathway in the presence of highHh levels and to repress the pathway in the absence of Hh signals.Modulates Hh signal transduction downstream of SMO and RAB23 (Bysimilarity). {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


Top

FusionGeneSequence for S100B_TCTN1


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).

Top

FusionGenePPI for S100B_TCTN1


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
S100BS100A1, TP53, IQGAP1, S100B, S100A11, S100A6, ANXA6, CAPZA1, MAPT, VAV1, PGM1, AHNAK, NDRG1, MDM2, CALM1, STK38, BAG3, IMPA1, S100A2, S100A4, S100P, SPG21, CT45A5, FBXW5, C11orf57, DNAJC30, ADTRP, IMP4, SRC, MLLT11, LSM5TCTN1IDS, TMEM25, DNASE2B, SIAE, KNG1, ASPH, BCAP31, BRI3BP, CALR, CALU, CANX, CCDC134, CKAP4, CNPY2, CNPY3, DDOST, DNAJB11, DNAJC10, DNAJC3, ERAP2, ERLEC1, ERLIN2, ERP29, GANAB, COLGALT1, GRAMD1A, HSP90B1, HSPA5, HYOU1, IKBIP, KDELC2, EMC1, P3H1, LMAN1, LRPAP1, MAGT1, MANF, MESDC2, MIA3, MINPP1, MLEC, MOGS, NENF, NUCB2, NUP210, OS9, P4HA1, P4HB, PDIA3, PDIA4, PDIA6, PPIB, PRDX4, PRKCSH, RCN1, RCN2, RPN1, RPN2, SDF2L1, SEC63, SEL1L, SEP15, SERPINH1, SLC39A7, STT3B, TMED2, TMTC3, TMX1, TOR1A, TTC13, TXNDC16, TXNDC5, UGGT1, UGGT2, AP3M1, APMAP, CHID1, CLCC1, EMC8, DDX47, DNM2, FKBP10, FKBP2, GARS, GFPT1, MAP2K1, MKL1, NCLN, NUP205, PLOD1, PLOD2, POFUT1, PRPS1, PRPS2, SEC11A, SIL1, SPCS3, SRSF2, TMED10, TMED9, EMC3, TOR1AIP1, ERO1L, ERO1LB, CC2D2A, TMEM231, B9D2, TUBB1, NPTX1, MKS1, SMOC1, MICA, GNB2, TCTN2, PSG8, SUSD4, NAAA, PSG1, TUBB8, SCGB2A2, PPOX, GML, FAM19A4, TCTN3


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


Top

RelatedDrugs for S100B_TCTN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneS100BP04271DB00768OlopatadineProtein S100-Bsmall moleculeapproved
HgeneS100BP04271DB11093Calcium CitrateProtein S100-Bsmall moleculeapproved
HgeneS100BP04271DB11348Calcium PhosphateProtein S100-Bsmall moleculeapproved
HgeneS100BP04271DB01373CalciumProtein S100-Bsmall moleculeapproved|nutraceutical

Top

RelatedDiseases for S100B_TCTN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneS100BC0005586Bipolar Disorder6CTD_human;PSYGENET
HgeneS100BC0011570Mental Depression5PSYGENET
HgeneS100BC0011581Depressive disorder5PSYGENET
HgeneS100BC0041696Unipolar Depression4PSYGENET
HgeneS100BC1269683Major Depressive Disorder4PSYGENET
HgeneS100BC0036341Schizophrenia3PSYGENET
HgeneS100BC0525045Mood Disorders2PSYGENET
HgeneS100BC0013080Down Syndrome1CTD_human
HgeneS100BC0018944Hematoma1CTD_human
HgeneS100BC0027051Myocardial Infarction1CTD_human
HgeneS100BC0033975Psychotic Disorders1PSYGENET
HgeneS100BC0221480Recurrent depression1PSYGENET
HgeneS100BC0236964Attention Deficit and Disruptive Behavior Disorders1CTD_human
HgeneS100BC0751895Vasospasm, Intracranial1CTD_human
HgeneS100BC1527311Brain Edema1CTD_human
HgeneS100BC2937358Cerebral Hemorrhage1CTD_human
TgeneTCTN1C0431399Familial aplasia of the vermis1CTD_human;ORPHANET
TgeneTCTN1C4277682Chemical and Drug Induced Liver Injury1CTD_human