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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: 11385

FusionGeneSummary for ELAC2_RABEP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ELAC2_RABEP1
Fusion gene ID: 11385
HgeneTgene
Gene symbol

ELAC2

RABEP1

Gene ID

60528

9135

Gene nameelaC ribonuclease Z 2rabaptin, RAB GTPase binding effector protein 1
SynonymsCOXPD17|ELC2|HPC2RAB5EP|RABPT5
Cytomap

17p12

17p13.2

Type of geneprotein-codingprotein-coding
Descriptionzinc phosphodiesterase ELAC protein 2RNase Z 2elaC homolog 2elaC homolog protein 2elaC-like protein 2heredity prostate cancer protein 2putative prostate cancer susceptibility protein HPC2/ELAC2ribonuclease Z 2tRNA 3 endonuclease 2tRNase Z (long frab GTPase-binding effector protein 1neurocrescinrabaptin-4rabaptin-5rabaptin-5alpharenal carcinoma antigen NY-REN-17
Modification date2018052320180522
UniProtAcc

Q9BQ52

Q15276

Ensembl transtripts involved in fusion geneENST00000338034, ENST00000395962, 
ENST00000426905, ENST00000609345, 
ENST00000578071, 
ENST00000408982, 
ENST00000262477, ENST00000537505, 
ENST00000546142, ENST00000341923, 
ENST00000570487, 
Fusion gene scores* DoF score2 X 3 X 2=1222 X 7 X 10=1540
# samples 222
** MAII scorelog2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: ELAC2 [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
TCGARVCHOLTCGA-W5-AA31-01AELAC2chr17

12909238

-RABEP1chr17

5211989

+
TCGALDCHOLTCGA-W5-AA31-01AELAC2chr17

12913930

-RABEP1chr17

5211989

+
* 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-shiftENST00000338034ENST00000408982ELAC2chr17

12909238

-RABEP1chr17

5211989

+
Frame-shiftENST00000338034ENST00000262477ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000338034ENST00000537505ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000338034ENST00000546142ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000338034ENST00000341923ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000338034ENST00000570487ELAC2chr17

12909238

-RABEP1chr17

5211989

+
Frame-shiftENST00000395962ENST00000408982ELAC2chr17

12909238

-RABEP1chr17

5211989

+
Frame-shiftENST00000395962ENST00000262477ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000395962ENST00000537505ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000395962ENST00000546142ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000395962ENST00000341923ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000395962ENST00000570487ELAC2chr17

12909238

-RABEP1chr17

5211989

+
Frame-shiftENST00000426905ENST00000408982ELAC2chr17

12909238

-RABEP1chr17

5211989

+
Frame-shiftENST00000426905ENST00000262477ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000426905ENST00000537505ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000426905ENST00000546142ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000426905ENST00000341923ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5CDS-intronENST00000426905ENST00000570487ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5UTR-3CDSENST00000609345ENST00000408982ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5UTR-3CDSENST00000609345ENST00000262477ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5UTR-intronENST00000609345ENST00000537505ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5UTR-intronENST00000609345ENST00000546142ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5UTR-intronENST00000609345ENST00000341923ELAC2chr17

12909238

-RABEP1chr17

5211989

+
5UTR-intronENST00000609345ENST00000570487ELAC2chr17

12909238

-RABEP1chr17

5211989

+
intron-3CDSENST00000578071ENST00000408982ELAC2chr17

12909238

-RABEP1chr17

5211989

+
intron-3CDSENST00000578071ENST00000262477ELAC2chr17

12909238

-RABEP1chr17

5211989

+
intron-intronENST00000578071ENST00000537505ELAC2chr17

12909238

-RABEP1chr17

5211989

+
intron-intronENST00000578071ENST00000546142ELAC2chr17

12909238

-RABEP1chr17

5211989

+
intron-intronENST00000578071ENST00000341923ELAC2chr17

12909238

-RABEP1chr17

5211989

+
intron-intronENST00000578071ENST00000570487ELAC2chr17

12909238

-RABEP1chr17

5211989

+
Frame-shiftENST00000338034ENST00000408982ELAC2chr17

12913930

-RABEP1chr17

5211989

+
Frame-shiftENST00000338034ENST00000262477ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000338034ENST00000537505ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000338034ENST00000546142ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000338034ENST00000341923ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000338034ENST00000570487ELAC2chr17

12913930

-RABEP1chr17

5211989

+
Frame-shiftENST00000395962ENST00000408982ELAC2chr17

12913930

-RABEP1chr17

5211989

+
Frame-shiftENST00000395962ENST00000262477ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000395962ENST00000537505ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000395962ENST00000546142ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000395962ENST00000341923ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000395962ENST00000570487ELAC2chr17

12913930

-RABEP1chr17

5211989

+
Frame-shiftENST00000426905ENST00000408982ELAC2chr17

12913930

-RABEP1chr17

5211989

+
Frame-shiftENST00000426905ENST00000262477ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000426905ENST00000537505ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000426905ENST00000546142ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000426905ENST00000341923ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5CDS-intronENST00000426905ENST00000570487ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5UTR-3CDSENST00000609345ENST00000408982ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5UTR-3CDSENST00000609345ENST00000262477ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5UTR-intronENST00000609345ENST00000537505ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5UTR-intronENST00000609345ENST00000546142ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5UTR-intronENST00000609345ENST00000341923ELAC2chr17

12913930

-RABEP1chr17

5211989

+
5UTR-intronENST00000609345ENST00000570487ELAC2chr17

12913930

-RABEP1chr17

5211989

+
intron-3CDSENST00000578071ENST00000408982ELAC2chr17

12913930

-RABEP1chr17

5211989

+
intron-3CDSENST00000578071ENST00000262477ELAC2chr17

12913930

-RABEP1chr17

5211989

+
intron-intronENST00000578071ENST00000537505ELAC2chr17

12913930

-RABEP1chr17

5211989

+
intron-intronENST00000578071ENST00000546142ELAC2chr17

12913930

-RABEP1chr17

5211989

+
intron-intronENST00000578071ENST00000341923ELAC2chr17

12913930

-RABEP1chr17

5211989

+
intron-intronENST00000578071ENST00000570487ELAC2chr17

12913930

-RABEP1chr17

5211989

+

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FusionProtFeatures for ELAC2_RABEP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ELAC2

Q9BQ52

RABEP1

Q15276

Zinc phosphodiesterase, which displays mitochondrialtRNA 3'-processing endonuclease activity. Involved in tRNAmaturation, by removing a 3'-trailer from precursor tRNA.{ECO:0000269|PubMed:21593607}. 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 ELAC2_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 ELAC2_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
ELAC2PUF60, ASCC2, CUX1, COPS5, SMAD2, SMAD3, FOXH1, ARIH1, XPO5, FEN1, HARS, IPO7, NRD1, PFDN1, PPP2CB, SARS, SNX5, TNPO3, TSN, WDR4, MRPS30, C12orf10, CKAP5, DDX5, DNAJC17, EIF2D, EIF6, ATIC, FERMT2, GLRX5, GORASP2, HNRNPF, HNRNPH1, HNRNPK, HSD17B10, KIF2C, PFKM, PFKP, ZNHIT2, NTRK1, HIST1H2BG, CEP19, CAMKK1, SENP3, UBAC1, RNF123, YBEY, TRMT10C, MRPL21RABEP1RAB5A, 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 ELAC2_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 ELAC2_RABEP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneELAC2C3539120PROSTATE CANCER, HEREDITARY, 210UNIPROT
HgeneELAC2C0033578Prostatic Neoplasms1CTD_human
HgeneELAC2C3809526COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 171ORPHANET;UNIPROT