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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: 8703

FusionGeneSummary for CSTB_TMEM147

check button Fusion gene summary
Fusion gene informationFusion gene name: CSTB_TMEM147
Fusion gene ID: 8703
HgeneTgene
Gene symbol

CSTB

TMEM147

Gene ID

1476

10430

Gene namecystatin Btransmembrane protein 147
SynonymsCPI-B|CST6|EPM1|EPM1A|PME|STFB|ULDNIFIE14
Cytomap

21q22.3

19q13.12

Type of geneprotein-codingprotein-coding
Descriptioncystatin-Bcystatin B (stefin B)liver thiol proteinase inhibitortransmembrane protein 147protein NIFIE 14seven transmembrane domain protein
Modification date2018052320180523
UniProtAcc

P04080

Q9BVK8

Ensembl transtripts involved in fusion geneENST00000291568, ENST00000222284, 
ENST00000392204, ENST00000392205, 
Fusion gene scores* DoF score4 X 4 X 2=321 X 1 X 1=1
# samples 41
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: CSTB [Title/Abstract] AND TMEM147 [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
HgeneCSTB

GO:0010466

negative regulation of peptidase activity

6203523

HgeneCSTB

GO:0045861

negative regulation of proteolysis

3488317


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
ChiTaRS3.1BQ691473CSTBchr21

45196160

+TMEM147chr19

36037464

+
* 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-3CDSENST00000291568ENST00000222284CSTBchr21

45196160

+TMEM147chr19

36037464

+
intron-3CDSENST00000291568ENST00000392204CSTBchr21

45196160

+TMEM147chr19

36037464

+
intron-3CDSENST00000291568ENST00000392205CSTBchr21

45196160

+TMEM147chr19

36037464

+

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FusionProtFeatures for CSTB_TMEM147


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

P04080

TMEM147

Q9BVK8

This is an intracellular thiol proteinase inhibitor.Tightly binding reversible inhibitor of cathepsins L, H and B.

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 CSTB_TMEM147


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 CSTB_TMEM147


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


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 CSTB_TMEM147


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 CSTB_TMEM147


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCSTBC0751785Unverricht-Lundborg Syndrome3CTD_human;ORPHANET;UNIPROT
HgeneCSTBC0027626Neoplasm Invasiveness2CTD_human
HgeneCSTBC0017636Glioblastoma1CTD_human
HgeneCSTBC0025286Meningioma1CTD_human
HgeneCSTBC0279626Squamous cell carcinoma of esophagus1CTD_human