FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 30365

FusionGeneSummary for RANGAP1_POLR3H

check button Fusion gene summary
Fusion gene informationFusion gene name: RANGAP1_POLR3H
Fusion gene ID: 30365
HgeneTgene
Gene symbol

RANGAP1

POLR3H

Gene ID

5905

171568

Gene nameRan GTPase activating protein 1RNA polymerase III subunit H
SynonymsFug1|RANGAP|SDRPC22.9|RPC8
Cytomap

22q13.2

22q13.2

Type of geneprotein-codingprotein-coding
Descriptionran GTPase-activating protein 1segregation distorter homologsegregation distortionDNA-directed RNA polymerase III subunit RPC8DNA-directed RNA polymerase III subunit 22.9 kDa polypeptideDNA-directed RNA polymerase III subunit HRNA nucleotidyltransferase (DNA-directed)RNA polymerase III subunit C8polymerase (RNA) III (DNA directed)
Modification date2018052220180523
UniProtAcc

P46060

Q9Y535

Ensembl transtripts involved in fusion geneENST00000405486, ENST00000356244, 
ENST00000455915, ENST00000407260, 
ENST00000396504, ENST00000355209, 
ENST00000337566, ENST00000407461, 
ENST00000420561, 
Fusion gene scores* DoF score12 X 10 X 6=7205 X 6 X 4=120
# samples 125
** MAII scorelog2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/120*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RANGAP1 [Title/Abstract] AND POLR3H [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
HgeneRANGAP1

GO:0046826

negative regulation of protein export from nucleus

16449645

HgeneRANGAP1

GO:0090630

activation of GTPase activity

16428860

TgenePOLR3H

GO:0006139

nucleobase-containing compound metabolic process

12391170

TgenePOLR3H

GO:0006383

transcription by RNA polymerase III

12391170


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
TCGARVESCATCGA-L5-A8NF-01ARANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
TCGALDESCATCGA-L5-A8NF-01ARANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
* 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
5UTR-3CDSENST00000405486ENST00000396504RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
5UTR-3CDSENST00000405486ENST00000355209RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
5UTR-intronENST00000405486ENST00000337566RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
5UTR-intronENST00000405486ENST00000407461RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
5UTR-5UTRENST00000405486ENST00000420561RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-3CDSENST00000356244ENST00000396504RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-3CDSENST00000356244ENST00000355209RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-intronENST00000356244ENST00000337566RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-intronENST00000356244ENST00000407461RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-5UTRENST00000356244ENST00000420561RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-3CDSENST00000455915ENST00000396504RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-3CDSENST00000455915ENST00000355209RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-intronENST00000455915ENST00000337566RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-intronENST00000455915ENST00000407461RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-5UTRENST00000455915ENST00000420561RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-3CDSENST00000407260ENST00000396504RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-3CDSENST00000407260ENST00000355209RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-intronENST00000407260ENST00000337566RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-intronENST00000407260ENST00000407461RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
intron-5UTRENST00000407260ENST00000420561RANGAP1chr22

41680905

-POLR3Hchr22

41928749

-
5UTR-intronENST00000405486ENST00000396504RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
5UTR-intronENST00000405486ENST00000355209RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
5UTR-intronENST00000405486ENST00000337566RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
5UTR-intronENST00000405486ENST00000407461RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
5UTR-intronENST00000405486ENST00000420561RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000356244ENST00000396504RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000356244ENST00000355209RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000356244ENST00000337566RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000356244ENST00000407461RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000356244ENST00000420561RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000455915ENST00000396504RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000455915ENST00000355209RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000455915ENST00000337566RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000455915ENST00000407461RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000455915ENST00000420561RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000407260ENST00000396504RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000407260ENST00000355209RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000407260ENST00000337566RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000407260ENST00000407461RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-
intron-intronENST00000407260ENST00000420561RANGAP1chr22

41680905

-POLR3Hchr22

41929691

-

Top

FusionProtFeatures for RANGAP1_POLR3H


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RANGAP1

P46060

POLR3H

Q9Y535

GTPase activator for RAN (PubMed:8146159,PubMed:8896452, PubMed:16428860). Converts cytoplasmic GTP-boundRAN to GDP-bound RAN, which is essential for RAN-mediated nuclearimport and export (PubMed:8896452, PubMed:27160050). Mediatesdissociation of cargo from nuclear export complexes containingXPO1, RAN and RANBP2 after nuclear export (PubMed:27160050).{ECO:0000269|PubMed:16428860, ECO:0000269|PubMed:27160050,ECO:0000269|PubMed:8146159, ECO:0000269|PubMed:8896452}. DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Specific peripheric component of RNA polymerase IIIwhich synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays akey role in sensing and limiting infection by intracellularbacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensorinvolved in innate immune response. Can sense non-self dsDNA thatserves as template for transcription into dsRNA. The non-self RNApolymerase III transcripts, such as Epstein-Barr virus-encodedRNAs (EBERs) induce type I interferon and NF- Kappa-B through theRIG-I pathway (By similarity). {ECO:0000250,ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370}.

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


Top

FusionGeneSequence for RANGAP1_POLR3H


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).

Top

FusionGenePPI for RANGAP1_POLR3H


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
RANGAP1UBE2I, SUMO1, RAN, RANGAP1, BABAM1, MEPCE, PMS1, TOPORS, RANBP2, ARRB2, SIRT7, USPL1, CSNK2A1, PCGF2, NXF1, PRDX6, NDUFA7, SORD, PRPF8, DYNC1LI1, EFTUD2, HUWE1, PPIF, PNPT1, NCOA6, PPIB, MMS19, SOX2, LMNA, EGFR, GNAI3, GNAI1, CCL5, SENP1, NLK, MIB1, KIAA1279, ACTR2, ACTR3, ARPC1B, ARPC2, BAG1, CALU, DBNL, EEF2K, EFTUD1, IPO11, LPP, NIF3L1, NSUN2, OSGEP, PANK4, PPP2R5D, RPRD1B, SAE1, SH3GLB1, THG1L, TP53RK, TPD52L2, TPRKB, UFM1, SENP2, CUL7, OBSL1, RNF2, UBE2E3, RCC1, C11orf58, COL4A3BP, CPSF4, EEF1G, GNL1, GTF3C3, IPO5, KDM2A, NCL, PCF11, POLR3C, RALY, CPSF1, PTBP1, U2AF2, UBR5, XPO1, RGPD2, RGPD5, RGPD6, SUB1, SUPT5H, UBR4, NTRK1, SCARNA22, NUP85, NUP107, NUP35, KPNB1, NUP153, ATP6AP2, SEH1L, MYO18A, JUN, RBPJ, FOXB1, FOXE1, FOXJ3, TMUB1, FOXL1, FOXQ1, SNW1, CDC5L, CDH1, CTDSPL2, B2M, TMEM194A, DLD, DLST, PDHA1, TRIM25, BRCA1POLR3HPOLR3D, RAE1, POLR3B, POLR3C, POLR3E, POLR3A, POLR2H, POLR3G, PCBP2, HSPA5, POLR1D, CDC42EP4, YWHAE, CRCP, POLR2E, POLR1C, HMG20B, GPN3, CDK2, LOC101060521, POLR3F, POLR2F, POLR3GL, ELAVL2


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


Top

RelatedDrugs for RANGAP1_POLR3H


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for RANGAP1_POLR3H


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRANGAP1C0079744Diffuse Large B-Cell Lymphoma1CTD_human