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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: 37898

FusionGeneSummary for TGFBI_RABEP1

check button Fusion gene summary
Fusion gene informationFusion gene name: TGFBI_RABEP1
Fusion gene ID: 37898
HgeneTgene
Gene symbol

TGFBI

RABEP1

Gene ID

7045

9135

Gene nametransforming growth factor beta inducedrabaptin, RAB GTPase binding effector protein 1
SynonymsBIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1RAB5EP|RABPT5
Cytomap

5q31.1

17p13.2

Type of geneprotein-codingprotein-coding
Descriptiontransforming growth factor-beta-induced protein ig-h3RGD-CAPRGD-containing collagen-associated proteinbeta ig-h3betaig-h3kerato-epithelintransforming growth factor beta-induced 68kDatransforming growth factor, beta-induced, 68kDrab GTPase-binding effector protein 1neurocrescinrabaptin-4rabaptin-5rabaptin-5alpharenal carcinoma antigen NY-REN-17
Modification date2018052720180522
UniProtAcc

Q15582

Q15276

Ensembl transtripts involved in fusion geneENST00000442011, ENST00000305126, 
ENST00000508076, ENST00000504185, 
ENST00000408982, ENST00000262477, 
ENST00000537505, ENST00000546142, 
ENST00000341923, ENST00000570487, 
Fusion gene scores* DoF score9 X 8 X 4=28822 X 7 X 10=1540
# samples 1022
** MAII scorelog2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(22/1540*10)=-2.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TGFBI [Title/Abstract] AND RABEP1 [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

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-FS-A1ZH-06ATGFBIchr5

135399504

+RABEP1chr17

5283828

+
* 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-intronENST00000442011ENST00000408982TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000442011ENST00000262477TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000442011ENST00000537505TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000442011ENST00000546142TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000442011ENST00000341923TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000442011ENST00000570487TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000305126ENST00000408982TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000305126ENST00000262477TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000305126ENST00000537505TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000305126ENST00000546142TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000305126ENST00000341923TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000305126ENST00000570487TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000508076ENST00000408982TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000508076ENST00000262477TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000508076ENST00000537505TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000508076ENST00000546142TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000508076ENST00000341923TGFBIchr5

135399504

+RABEP1chr17

5283828

+
5CDS-intronENST00000508076ENST00000570487TGFBIchr5

135399504

+RABEP1chr17

5283828

+
intron-intronENST00000504185ENST00000408982TGFBIchr5

135399504

+RABEP1chr17

5283828

+
intron-intronENST00000504185ENST00000262477TGFBIchr5

135399504

+RABEP1chr17

5283828

+
intron-intronENST00000504185ENST00000537505TGFBIchr5

135399504

+RABEP1chr17

5283828

+
intron-intronENST00000504185ENST00000546142TGFBIchr5

135399504

+RABEP1chr17

5283828

+
intron-intronENST00000504185ENST00000341923TGFBIchr5

135399504

+RABEP1chr17

5283828

+
intron-intronENST00000504185ENST00000570487TGFBIchr5

135399504

+RABEP1chr17

5283828

+

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FusionProtFeatures for TGFBI_RABEP1


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

Q15582

RABEP1

Q15276

Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusionand membrane trafficking of recycling endosomes. Involved in KCNH1channels trafficking to and from the cell membrane(PubMed:22841712). Stimulates RABGEF1 mediated nucleotide exchangeon RAB5A. {ECO:0000269|PubMed:10698684,ECO:0000269|PubMed:11452015, ECO:0000269|PubMed:12773381,ECO:0000269|PubMed:22841712, ECO:0000269|PubMed:8521472}.

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 TGFBI_RABEP1


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 TGFBI_RABEP1


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
TGFBIFN1, FAM9BRABEP1RAB5A, HUNK, YWHAQ, YWHAG, GAP43, AP1G1, RABEP1, RAB4A, GGA1, GGA2, GGA3, EEA1, RAB33B, RAB1A, ATXN7, ITSN1, ITSN2, RABGEF1, RABEP2, KIAA0368, RUFY1, SMU1, UACA, UBC, YWHAE, TRIM26, CCND1, RGS17, SLMAP, PLEC, ACTR10, ACTR1B, DCTN2, NCAPD2, HSF4, HSFY1, CCDC183, HERC2, NTRK1, AP1G2, SRPK2, OFD1, CSNK2A2, SGTB, SMURF1, C15orf27, EXOC1, SYNC, NEFL, PKN3, NCKAP5L, TFPT, CCHCR1, YEATS4, TUFT1, RABGAP1L, GOLGA5, EXOC4, GIT2, CLOCK, PSMD9, VPS53, DZIP3, GRIPAP1, RCOR1, 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 TGFBI_RABEP1


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 TGFBI_RABEP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTGFBIC1690006Lattice corneal dystrophy Type I12CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1641846Groenouw corneal dystrophy type I (disorder)7CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1275685Avellino corneal dystrophy6CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC0339278Reis-Bucklers' corneal dystrophy5CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1837974Corneal Dystrophy, Lattice Type IIIA5CTD_human;UNIPROT
HgeneTGFBIC1562894Thiel-Behnke corneal dystrophy4CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC0000786Spontaneous abortion1CTD_human
HgeneTGFBIC0011881Diabetic Nephropathy1CTD_human
HgeneTGFBIC0521723Corneal dystrophy, epithelial basement membrane1CTD_human;ORPHANET;UNIPROT