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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: 30098

FusionGeneSummary for RABEP1_PIGL

check button Fusion gene summary
Fusion gene informationFusion gene name: RABEP1_PIGL
Fusion gene ID: 30098
HgeneTgene
Gene symbol

RABEP1

PIGL

Gene ID

9135

9487

Gene namerabaptin, RAB GTPase binding effector protein 1phosphatidylinositol glycan anchor biosynthesis class L
SynonymsRAB5EP|RABPT5CHIME
Cytomap

17p13.2

17p11.2

Type of geneprotein-codingprotein-coding
Descriptionrab GTPase-binding effector protein 1neurocrescinrabaptin-4rabaptin-5rabaptin-5alpharenal carcinoma antigen NY-REN-17N-acetylglucosaminyl-phosphatidylinositol de-N-acetylaseN-acetylglucosaminylphosphatidylinositol deacetylasePIG-Lphosphatidylinositol glycan, class Lphosphatidylinositol-glycan biosynthesis class L protein
Modification date2018052220180519
UniProtAcc

Q15276

Q9Y2B2

Ensembl transtripts involved in fusion geneENST00000408982, ENST00000262477, 
ENST00000537505, ENST00000546142, 
ENST00000341923, ENST00000570487, 
ENST00000581006, ENST00000498772, 
ENST00000225609, ENST00000395844, 
ENST00000463810, 
Fusion gene scores* DoF score11 X 8 X 7=6165 X 2 X 5=50
# samples 175
** MAII scorelog2(17/616*10)=-1.8573956045572
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/50*10)=0
Context

PubMed: RABEP1 [Title/Abstract] AND PIGL [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
TCGARVLUSCTCGA-60-2724-01ARABEP1chr17

5257785

+PIGLchr17

16203202

+
* 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-shiftENST00000408982ENST00000581006RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000408982ENST00000498772RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000408982ENST00000225609RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000408982ENST00000395844RABEP1chr17

5257785

+PIGLchr17

16203202

+
5CDS-intronENST00000408982ENST00000463810RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000262477ENST00000581006RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000262477ENST00000498772RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000262477ENST00000225609RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000262477ENST00000395844RABEP1chr17

5257785

+PIGLchr17

16203202

+
5CDS-intronENST00000262477ENST00000463810RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000537505ENST00000581006RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000537505ENST00000498772RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000537505ENST00000225609RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000537505ENST00000395844RABEP1chr17

5257785

+PIGLchr17

16203202

+
5CDS-intronENST00000537505ENST00000463810RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000546142ENST00000581006RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000546142ENST00000498772RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000546142ENST00000225609RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000546142ENST00000395844RABEP1chr17

5257785

+PIGLchr17

16203202

+
5CDS-intronENST00000546142ENST00000463810RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000341923ENST00000581006RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000341923ENST00000498772RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000341923ENST00000225609RABEP1chr17

5257785

+PIGLchr17

16203202

+
Frame-shiftENST00000341923ENST00000395844RABEP1chr17

5257785

+PIGLchr17

16203202

+
5CDS-intronENST00000341923ENST00000463810RABEP1chr17

5257785

+PIGLchr17

16203202

+
intron-3CDSENST00000570487ENST00000581006RABEP1chr17

5257785

+PIGLchr17

16203202

+
intron-3CDSENST00000570487ENST00000498772RABEP1chr17

5257785

+PIGLchr17

16203202

+
intron-3CDSENST00000570487ENST00000225609RABEP1chr17

5257785

+PIGLchr17

16203202

+
intron-3CDSENST00000570487ENST00000395844RABEP1chr17

5257785

+PIGLchr17

16203202

+
intron-intronENST00000570487ENST00000463810RABEP1chr17

5257785

+PIGLchr17

16203202

+

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FusionProtFeatures for RABEP1_PIGL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RABEP1

Q15276

PIGL

Q9Y2B2

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}. Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol.

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 RABEP1_PIGL


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 RABEP1_PIGL


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
RABEP1RAB5A, 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, TRIM25PIGLMEIS2


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 RABEP1_PIGL


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 RABEP1_PIGL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePIGLC1848392Zunich neuroectodermal syndrome1ORPHANET;UNIPROT