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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: 8892

FusionGeneSummary for CTSB_ARFGEF2

check button Fusion gene summary
Fusion gene informationFusion gene name: CTSB_ARFGEF2
Fusion gene ID: 8892
HgeneTgene
Gene symbol

CTSB

ARFGEF2

Gene ID

1508

10564

Gene namecathepsin BADP ribosylation factor guanine nucleotide exchange factor 2
SynonymsAPPS|CPSBBIG2|PVNH2|dJ1164I10.1
Cytomap

8p23.1

20q13.13

Type of geneprotein-codingprotein-coding
Descriptioncathepsin BAPP secretaseamyloid precursor protein secretasecathepsin B1cysteine proteasebrefeldin A-inhibited guanine nucleotide-exchange protein 2ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)brefeldin A-inhibited GEP 2
Modification date2018052320180523
UniProtAcc

P07858

Q9Y6D5

Ensembl transtripts involved in fusion geneENST00000434271, ENST00000353047, 
ENST00000530640, ENST00000531089, 
ENST00000453527, ENST00000415599, 
ENST00000345125, ENST00000533455, 
ENST00000534510, ENST00000525076, 
ENST00000371917, ENST00000493140, 
Fusion gene scores* DoF score12 X 7 X 6=50437 X 5 X 14=2590
# samples 1440
** MAII scorelog2(14/504*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(40/2590*10)=-2.69488019279919
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CTSB [Title/Abstract] AND ARFGEF2 [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
HgeneCTSB

GO:0006508

proteolysis

7890620|8811434

HgeneCTSB

GO:0030574

collagen catabolic process

22952693

HgeneCTSB

GO:0051603

proteolysis involved in cellular protein catabolic process

22952693

TgeneARFGEF2

GO:0001881

receptor recycling

16477018

TgeneARFGEF2

GO:0035556

intracellular signal transduction

12571360


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
TCGARVLUADTCGA-71-6725-01ACTSBchr8

11701829

-ARFGEF2chr20

47615777

+
* 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-intronENST00000434271ENST00000371917CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000434271ENST00000493140CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000353047ENST00000371917CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000353047ENST00000493140CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000530640ENST00000371917CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000530640ENST00000493140CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000531089ENST00000371917CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000531089ENST00000493140CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
5CDS-intronENST00000453527ENST00000371917CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
5CDS-intronENST00000453527ENST00000493140CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
5CDS-intronENST00000415599ENST00000371917CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
5CDS-intronENST00000415599ENST00000493140CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000345125ENST00000371917CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000345125ENST00000493140CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000533455ENST00000371917CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000533455ENST00000493140CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000534510ENST00000371917CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000534510ENST00000493140CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000525076ENST00000371917CTSBchr8

11701829

-ARFGEF2chr20

47615777

+
intron-intronENST00000525076ENST00000493140CTSBchr8

11701829

-ARFGEF2chr20

47615777

+

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FusionProtFeatures for CTSB_ARFGEF2


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

P07858

ARFGEF2

Q9Y6D5

Thiol protease which is believed to participate inintracellular degradation and turnover of proteins. Has also beenimplicated in tumor invasion and metastasis. Promotes guanine-nucleotide exchange on ARF1 and ARF3and to a lower extent on ARF5 and ARF6. Promotes the activation ofARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved inthe regulation of Golgi vesicular transport. Required for theintegrity of the endosomal compartment. Involved in traffickingfrom the trans-Golgi network (TGN) to endosomes and is requiredfor membrane association of the AP-1 complex and GGA1. Seems to beinvolved in recycling of the transferrin receptor from recyclingendosomes to the plasma membrane. Probably is involved in the exitof GABA(A) receptors from the endoplasmic reticulum. Involved inconstitutive release of tumor necrosis factor receptor 1 viaexosome-like vesicles; the function seems to involve PKA andspecifically PRKAR2B. Proposed to act as A kinase-anchoringprotein (AKAP) and may mediate crosstalk between Arf and PKApathways. {ECO:0000269|PubMed:12051703,ECO:0000269|PubMed:12571360, ECO:0000269|PubMed:15385626,ECO:0000269|PubMed:16477018, ECO:0000269|PubMed:17276987,ECO:0000269|PubMed:18625701, ECO:0000269|PubMed:20360857}.

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 CTSB_ARFGEF2


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 CTSB_ARFGEF2


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
CTSBCSTA, CSTB, CST3, BAG6, S100A10, ANXA2, UBQLN4, USP29, DMWD, FAM118B, SPRY2, CDKN1A, RGS2, ANXA7, SH3KBP1, APP, PROCR, PARP1, MLH1, METTL21B, HNRNPD, XRN1, HIPK4, CDK18, FBXO6, IRS4, UNK, MSI2, HSPB2, STK11, CEP164, FBF1, RPGRIP1L, SCLT1, CDH1, PTPN18, NR3C1, TRIM25ARFGEF2FKBP2, PRKAR1A, PRKAR2A, ARFGEF1, MYC, VCP, PRPF40A, PNPLA2, CDC73, FLNC, NUP98, NUP88, PAF1, SPACA1, TMEM171, CSGALNACT1, DNAJB2, HLA-B, SDF4, CD244, SLAMF1, DTNBP1, HLA-E, LDLRAD4, ANKMY2, SNW1, FLNA, GYPB, LAMP3, FAM131B, MRAP2, CD79B, EDNRB, SIGLECL1, TMEM9B, MADCAM1, VASN, PDCD1, ICAM1, TRIM25, BRCA1


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 CTSB_ARFGEF2


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 CTSB_ARFGEF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCTSBC0027626Neoplasm Invasiveness2CTD_human
HgeneCTSBC0007134Renal Cell Carcinoma1CTD_human
HgeneCTSBC0017636Glioblastoma1CTD_human
HgeneCTSBC0026848Myopathy1CTD_human
HgeneCTSBC0027540Necrosis1CTD_human
HgeneCTSBC0033578Prostatic Neoplasms1CTD_human
HgeneCTSBC0033687Proteinuria1CTD_human