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: 31322

FusionGeneSummary for RMI2_MED17

check button Fusion gene summary
Fusion gene informationFusion gene name: RMI2_MED17
Fusion gene ID: 31322
HgeneTgene
Gene symbol

RMI2

MED17

Gene ID

116028

9440

Gene nameRecQ mediated genome instability 2mediator complex subunit 17
SynonymsBLAP18|C16orf75CRSP6|CRSP77|DRIP80|SRB4|TRAP80
Cytomap

16p13.13

11q21

Type of geneprotein-codingprotein-coding
DescriptionrecQ-mediated genome instability protein 2BLM-associated protein of 18 kDaRMI2, RecQ mediated genome instability 2, homologmediator of RNA polymerase II transcription subunit 17ARC77CRSP complex subunit 6activator-recruited cofactor 77 kDa componentcofactor required for Sp1 transcriptional activation, subunit 6, 77kDathyroid hormone receptor-associated protein complex 80
Modification date2018052320180523
UniProtAcc

Q96E14

Q9NVC6

Ensembl transtripts involved in fusion geneENST00000572173, ENST00000572992, 
ENST00000381820, ENST00000312499, 
ENST00000576027, 
ENST00000251871, 
ENST00000530819, ENST00000533367, 
Fusion gene scores* DoF score8 X 8 X 2=1281 X 1 X 1=1
# samples 81
** MAII scorelog2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: RMI2 [Title/Abstract] AND MED17 [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
TgeneMED17

GO:0006357

regulation of transcription by RNA polymerase II

9989412

TgeneMED17

GO:0006367

transcription initiation from RNA polymerase II promoter

12218053

TgeneMED17

GO:0030518

intracellular steroid hormone receptor signaling pathway

11867769

TgeneMED17

GO:0030521

androgen receptor signaling pathway

12218053

TgeneMED17

GO:0045893

positive regulation of transcription, DNA-templated

10198638

TgeneMED17

GO:0045944

positive regulation of transcription by RNA polymerase II

12037571


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
ChiTaRS3.1BG822170RMI2chr16

11444722

-MED17chr11

93517552

+
* 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
3UTR-5UTRENST00000572173ENST00000251871RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-5UTRENST00000572173ENST00000530819RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-intronENST00000572173ENST00000533367RMI2chr16

11444722

-MED17chr11

93517552

+
intron-5UTRENST00000572992ENST00000251871RMI2chr16

11444722

-MED17chr11

93517552

+
intron-5UTRENST00000572992ENST00000530819RMI2chr16

11444722

-MED17chr11

93517552

+
intron-intronENST00000572992ENST00000533367RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-5UTRENST00000381820ENST00000251871RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-5UTRENST00000381820ENST00000530819RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-intronENST00000381820ENST00000533367RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-5UTRENST00000312499ENST00000251871RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-5UTRENST00000312499ENST00000530819RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-intronENST00000312499ENST00000533367RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-5UTRENST00000576027ENST00000251871RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-5UTRENST00000576027ENST00000530819RMI2chr16

11444722

-MED17chr11

93517552

+
3UTR-intronENST00000576027ENST00000533367RMI2chr16

11444722

-MED17chr11

93517552

+

Top

FusionProtFeatures for RMI2_MED17


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RMI2

Q96E14

MED17

Q9NVC6

Essential component of the RMI complex, a complex thatplays an important role in the processing of homologousrecombination intermediates. It is required to regulate sisterchromatid segregation and to limit DNA crossover. Essential forthe stability, localization, and function of BLM, TOP3A, andcomplexes containing BLM. In the RMI complex, it is required totarget BLM to chromatin and stress-induced nuclear foci andmitotic phosphorylation of BLM. {ECO:0000269|PubMed:18923082,ECO:0000269|PubMed:18923083, ECO:0000269|PubMed:27977684}. Component of the Mediator complex, a coactivatorinvolved in the regulated transcription of nearly all RNApolymerase II-dependent genes. Mediator functions as a bridge toconvey information from gene-specific regulatory proteins to thebasal RNA polymerase II transcription machinery. Mediator isrecruited to promoters by direct interactions with regulatoryproteins and serves as a scaffold for the assembly of a functionalpreinitiation complex with RNA polymerase II and the generaltranscription factors. {ECO:0000269|PubMed:16595664}.

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 RMI2_MED17


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 RMI2_MED17


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


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 RMI2_MED17


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 RMI2_MED17


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMED17C0014175Endometriosis1CTD_human
TgeneMED17C3150921MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY1CTD_human;ORPHANET;UNIPROT